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 ZNF860 344787 broad.mit.edu 37 3 32031784 32031784 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:32031784A>G ENST00000360311.4 + 2 1762 c.1213A>G c.(1213-1215)Aaa>Gaa p.K405E NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 TGATTGTCACAAAGTCTTCAG 0.363000 5 32 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 133880403 133880403 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:133880403G>C ENST00000220616.4 + 2 151 c.111G>C c.(109-111)caG>caC p.Q37H TG_ENST00000377869.1_Missense_Mutation_p.Q37H NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 37 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGAGCTGCAGAGGGAAACGG 0.547000 13 114 0 0 0.002450 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581085 234581085 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:234581085G>A ENST00000354728.4 + 1 587 c.505G>A c.(505-507)Gcc>Acc p.A169T UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) CGTGGTCTTCGCCAGGGGAAT 0.458000 32 201 0 0 0.015359 0 0 WDR70 55100 broad.mit.edu 37 5 37379592 37379592 + Splice_Site SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:37379592G>A ENST00000265107.4 + 2 183 c.25_splice c.e2-1 p.V9_splice WDR70_ENST00000504564.1_Splice_Site_p.V9_splice NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 9 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGCTCCAGTGACAGGCTCAG 0.662000 31 67 0 0 0.010818 0 0 CRP 1401 broad.mit.edu 37 1 159683534 159683534 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:159683534G>A ENST00000255030.5 - 2 559 c.456C>T c.(454-456)atC>atT p.I152I CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000473196.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 152 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CCTGCCCCAAGATGATGCTTG 0.547000 121 263 0 0 0.014410 0 0 OR52R1 119695 broad.mit.edu 37 11 4825663 4825663 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:4825663T>A ENST00000380382.1 - 1 184 c.185A>T c.(184-186)tAt>tTt p.Y62F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGCAGATGATAACAATCAAA 0.403000 9 26 0 0 0.006214 0 0 OXNAD1 92106 broad.mit.edu 37 3 16336367 16336367 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:16336367G>T ENST00000285083.5 + 6 760 c.295G>T c.(295-297)Gat>Tat p.D99Y OXNAD1_ENST00000605932.1_Missense_Mutation_p.D99Y|OXNAD1_ENST00000435829.2_Missense_Mutation_p.D117Y|OXNAD1_ENST00000544043.1_Missense_Mutation_p.D117Y|OXNAD1_ENST00000606098.1_Missense_Mutation_p.D99Y NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 99 FAD-binding FR-type. oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 TTTTAGGGTTGATTTCTTTAT 0.338000 19 37 5.03518e-11 5.9265e-11 0.007413 1 0 RABEP2 79874 broad.mit.edu 37 16 28916339 28916339 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:28916339A>G ENST00000358201.4 - 13 2223 c.1635T>C c.(1633-1635)gcT>gcC p.A545A RABEP2_ENST00000357573.6_Silent_p.A509A|RABEP2_ENST00000544477.1_Silent_p.A474A NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 545 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCAGGGTCTCAGCCTGGCGGA 0.652000 18 17 0 0 0.007413 0 0 UPRT 139596 broad.mit.edu 37 X 74494380 74494380 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:74494380A>G ENST00000373379.1 + 1 456 c.291A>G c.(289-291)ctA>ctG p.L97L UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Silent_p.L97L Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 97 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 ACTCCTTCCTAGAGGACTGCG 0.577000 18 9 0 0 0.004990 0 0 KMT2C 58508 broad.mit.edu 37 7 151927076 151927076 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:151927076C>A ENST00000355193.2 - 18 3126 c.2908G>T c.(2908-2910)Gca>Tca p.A970S KMT2C_ENST00000262189.6_Missense_Mutation_p.A970S lysine (K)-specific methyltransferase 2C CTTCCTTCTGCTCCTTGGCCA 0.353000 12 301 3.99206e-14 4.83383e-14 0.007413 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49969066 49969066 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:49969066T>A ENST00000293350.4 + 13 1803 c.1640T>A c.(1639-1641)aTc>aAc p.I547N ALDH16A1_ENST00000540132.1_Missense_Mutation_p.I384N|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.I382N|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.I496N NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 547 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TCCAGGCCCATCCGGGATTCG 0.647000 4 30 0 0 0.009096 0 0 NRXN1 9378 broad.mit.edu 37 2 50149334 50149334 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:50149334G>A ENST00000404971.1 - 24 5731 c.4392C>T c.(4390-4392)atC>atT p.I1464I NRXN1_ENST00000401710.1_Silent_p.I412I|NRXN1_ENST00000406316.2_Silent_p.I1394I|NRXN1_ENST00000405472.3_Silent_p.I1416I|NRXN1_ENST00000401669.2_Silent_p.I1424I|NRXN1_ENST00000342183.5_Silent_p.I359I|NRXN1_ENST00000406859.3_Silent_p.I1394I|NRXN1_ENST00000402717.3_Silent_p.I1416I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1394 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGACTCCCGGATCACTTCTG 0.532000 15 41 0 0 0.004007 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557266 36557266 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:36557266G>T ENST00000373178.4 + 3 386 c.356G>T c.(355-357)gGa>gTa p.G119V NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 119 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) TATGGTGCTGGAGTAGTCACT 0.507000 26 49 5.45727e-16 6.69354e-16 0.008361 1 0 MTHFSD 64779 broad.mit.edu 37 16 86565716 86565716 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:86565716G>A ENST00000322911.6 - 8 1100 c.1050C>T c.(1048-1050)gaC>gaT p.D350D MTHFSD_ENST00000543303.2_Silent_p.D350D|MTHFSD_ENST00000546093.1_Silent_p.D188D|MTHFSD_ENST00000381214.5_Silent_p.D351D|MTHFSD_ENST00000360900.6_Silent_p.D351D NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 351 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 CTGCGGCAGAGTCCGGGTAAT 0.701000 7 20 0 0 0.001984 0 0 MS4A3 932 broad.mit.edu 37 11 59837144 59837144 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:59837144G>C ENST00000278865.3 + 6 684 c.611G>C c.(610-612)aGa>aCa p.R204T MS4A3_ENST00000534744.1_Missense_Mutation_p.R158T|MS4A3_ENST00000395032.2_Missense_Mutation_p.R81T|MS4A3_ENST00000358152.2_Missense_Mutation_p.R158T NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 204 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) TGTAATTCAAGAGAGGTGAGA 0.403000 97 68 0 0 0.014410 0 0 SLC29A3 55315 broad.mit.edu 37 10 73122032 73122032 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:73122032C>T ENST00000373189.5 + 6 1147 c.1095C>T c.(1093-1095)ctC>ctT p.L365L SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 365 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 GCCGGCAGCTCACCGCCTGGA 0.597000 32 146 0 0 0.008361 0 0 LPHN2 23266 broad.mit.edu 37 1 82417743 82417743 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:82417743G>T ENST00000370728.1 + 11 2344 c.1699G>T c.(1699-1701)Gag>Tag p.E567* LPHN2_ENST00000370730.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.E567*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.E567*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.E505*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.E567*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.E567* O95490 LPHN2_HUMAN latrophilin 2 567 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GAGATTGATGGAGCAGTTGGT 0.458000 15 12 1.3612e-06 1.52632e-06 0.003163 1 0 TECTA 7007 broad.mit.edu 37 11 121008503 121008503 + Silent SNP C C T rs142573400 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:121008503C>T ENST00000392793.1 + 11 3586 c.3315C>T c.(3313-3315)taC>taT p.Y1105Y TECTA_ENST00000264037.2_Silent_p.Y1105Y O75443 TECTA_HUMAN tectorin alpha 1105 VWFD 3. 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) TCTCAGGCTACGGCCACTACC 0.582000 5 31 0 0 0.014758 0 0 ELAC2 60528 broad.mit.edu 37 17 12905612 12905612 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:12905612C>A ENST00000338034.4 - 14 1522 c.1283G>T c.(1282-1284)cGt>cTt p.R428L ELAC2_ENST00000395962.2_Missense_Mutation_p.R409L|ELAC2_ENST00000426905.3_Missense_Mutation_p.R388L NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 428 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCTCCTGGGACGGAGCTGGTA 0.493000 14 30 1.3612e-06 1.52632e-06 0.003163 1 0 POU3F1 5453 broad.mit.edu 37 1 38511276 38511276 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:38511276C>T ENST00000373012.2 - 1 1174 c.1140G>A c.(1138-1140)aaG>aaA p.K380K NM_002699.3 NP_002690.3 Q03052 PO3F1_HUMAN POU class 3 homeobox 1 380 positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K380N(1) cervix(1)|lung(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCACCACCTCCTTCTCCAGCT 0.672000 4 12 0 0 0.009096 0 0 SPEG 10290 broad.mit.edu 37 2 220327061 220327061 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:220327061C>T ENST00000312358.7 + 8 2790 c.2658C>T c.(2656-2658)gtC>gtT p.V886V SPEG_ENST00000396686.1_Silent_p.V37V|SPEG_ENST00000396688.1_Silent_p.V37V|SPEG_ENST00000396698.1_Silent_p.V782V|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396689.2_Silent_p.V37V|SPEG_ENST00000396695.2_Silent_p.V94V NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 886 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCAAGATGTCATCATGAGCA 0.602000 3 5 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55566757 55566757 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:55566757T>C ENST00000373965.2 - 36 5031 c.4637A>G c.(4636-4638)aAt>aGt p.N1546S PCDH15_ENST00000414778.1_Missense_Mutation_p.N1543S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AATATATATATTGCCGTTGAT 0.483000 HNSCC(58;0.16) 9 36 0 0 0.006214 0 0 ACSL6 23305 broad.mit.edu 37 5 131308521 131308521 + Missense_Mutation SNP G G A rs140341663 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:131308521G>A ENST00000379264.2 - 13 1342 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C ACSL6_ENST00000379255.1_Missense_Mutation_p.R312C|ACSL6_ENST00000379246.1_Missense_Mutation_p.R398C|ACSL6_ENST00000543479.1_Missense_Mutation_p.R387C|ACSL6_ENST00000379240.1_Missense_Mutation_p.R387C|ACSL6_ENST00000544770.1_Missense_Mutation_p.R296C|ACSL6_ENST00000379272.2_Missense_Mutation_p.R402C|ACSL6_ENST00000357096.1_Missense_Mutation_p.R312C|ACSL6_ENST00000431707.1_Missense_Mutation_p.R367C|ACSL6_ENST00000296869.4_Missense_Mutation_p.R412C|ACSL6_ENST00000379244.1_Missense_Mutation_p.R387C|ACSL6_ENST00000379249.3_Missense_Mutation_p.R387C NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 387 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGAGCCAGCGCTTTAATGGT 0.458000 23 41 0 0 0.016522 0 0 NCAM1 4684 broad.mit.edu 37 11 113075215 113075215 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:113075215T>C ENST00000316851.7 + 2 305 c.305T>C c.(304-306)gTg>gCg p.V102A NCAM1_ENST00000401611.2_Missense_Mutation_p.V111A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 112 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ACCGTCAACGTGAAGATCTTT 0.517000 28 19 0 0 0.006320 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581426 140581426 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:140581426G>A ENST00000354757.3 + 1 2079 c.2079G>A c.(2077-2079)gcG>gcA p.A693A PCDHB11_ENST00000536699.1_Silent_p.A328A NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 693 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A693A(1) 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) TGGTGGTGGCGTTGGCCTCGG 0.692000 89 114 0 0 0.014410 0 0 PRDM1 639 broad.mit.edu 37 6 106554835 106554835 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:106554835G>C ENST00000369096.4 + 7 2186 c.1952G>C c.(1951-1953)cGa>cCa p.R651P PRDM1_ENST00000369089.3_Missense_Mutation_p.R517P|PRDM1_ENST00000369091.2_Missense_Mutation_p.R615P NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 651 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) ACCCACCTGCGACTCCATTCT 0.547000 """D, N, Mis, F, S""" DLBCL 10 79 0 0 0.002450 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919577 142919577 + Missense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:142919577A>T ENST00000408947.3 + 1 448 c.406A>T c.(406-408)Agg>Tgg p.R136W NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 136 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CCTGATGAAGAGGAAAATCAT 0.423000 47 125 0 0 0.011902 0 0 ANK3 288 broad.mit.edu 37 10 61844939 61844939 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:61844939G>A ENST00000280772.1 - 31 4012 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F ANK3_ENST00000355288.2_Missense_Mutation_p.S408F|ANK3_ENST00000503366.1_Missense_Mutation_p.S1275F|ANK3_ENST00000373827.2_Missense_Mutation_p.S1268F NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1274 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 GGTTGTAAAGGAGACACAATC 0.388000 20 4 0 0 0.012319 0 0 SORL1 6653 broad.mit.edu 37 11 121476152 121476152 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:121476152G>C ENST00000260197.7 + 35 4949 c.4820G>C c.(4819-4821)aGc>aCc p.S1607T SORL1_ENST00000534286.1_Missense_Mutation_p.S517T|SORL1_ENST00000525532.1_Missense_Mutation_p.S551T|SORL1_ENST00000532694.1_Missense_Mutation_p.S453T|SORL1_ENST00000527934.1_Missense_Mutation_p.S222T NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1607 Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAGACCCACAGCAATAAGACA 0.448000 22 151 0 0 0.014323 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320553 79320553 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:79320553C>G ENST00000428286.1 - 8 6760 c.5560G>C c.(5560-5562)Gat>Cat p.D1854H PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2213H Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2213 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGTGCCATATCTGGGCTGGCT 0.448000 24 66 0 0 0.004656 0 0 GRIA4 2893 broad.mit.edu 37 11 105774606 105774606 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:105774606C>A ENST00000393127.2 + 8 1398 c.952C>A c.(952-954)Cag>Aag p.Q318K GRIA4_ENST00000530497.1_Missense_Mutation_p.Q318K|GRIA4_ENST00000282499.5_Missense_Mutation_p.Q318K|GRIA4_ENST00000428631.2_Missense_Mutation_p.Q318K|GRIA4_ENST00000393125.2_Missense_Mutation_p.Q318K|GRIA4_ENST00000525187.1_Missense_Mutation_p.Q318K NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 318 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTTAGGAGGCAGAAAATTGA 0.443000 8 90 3.09899e-07 3.49558e-07 0.004482 1 0 ACIN1 22985 broad.mit.edu 37 14 23549752 23549752 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23549752C>G ENST00000262710.1 - 6 1293 c.966G>C c.(964-966)gaG>gaC p.E322D ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D|ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 322 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTTGGGTCTCTCATCCATCA 0.463000 19 50 0 0 0.005443 0 0 EPAS1 2034 broad.mit.edu 37 2 46607470 46607470 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:46607470G>C ENST00000263734.3 + 12 2169 c.1659G>C c.(1657-1659)gcG>gcC p.A553A NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 553 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GGCTCTTGGCGGAGAACCCAC 0.597000 108 39 0 0 0.014410 0 0 TRPM3 80036 broad.mit.edu 37 9 73152282 73152282 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:73152282C>T ENST00000377110.2 - 25 3954 c.3711G>A c.(3709-3711)gaG>gaA p.E1237E TRPM3_ENST00000396280.5_Silent_p.E1086E|TRPM3_ENST00000377111.2_Silent_p.E1237E|TRPM3_ENST00000358082.3_Silent_p.E1099E|TRPM3_ENST00000396285.1_Silent_p.E1096E|TRPM3_ENST00000360823.2_Silent_p.E1099E|TRPM3_ENST00000396292.4_Silent_p.E1109E|TRPM3_ENST00000357533.2_Silent_p.E1241E|TRPM3_ENST00000423814.3_Silent_p.E1264E|TRPM3_ENST00000377105.1_Silent_p.E1096E|TRPM3_ENST00000377106.1_Silent_p.E1109E|TRPM3_ENST00000408909.2_Silent_p.E1096E NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1262 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGTGCTCTCTCTCGTTGACTT 0.602000 14 25 0 0 0.003163 0 0 MYPN 84665 broad.mit.edu 37 10 69959140 69959140 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:69959140C>T ENST00000358913.5 + 17 3789 c.3301C>T c.(3301-3303)Ccc>Tcc p.P1101S MYPN_ENST00000540630.1_Missense_Mutation_p.P1101S|MYPN_ENST00000354393.2_Missense_Mutation_p.P826S NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1101 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TGGTTTACCGCCCCCGGAGCT 0.507000 10 20 0 0 0.008291 0 0 PHOX2A 401 broad.mit.edu 37 11 71952288 71952288 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:71952288C>T ENST00000298231.5 - 2 434 c.263G>A c.(262-264)cGc>cAc p.R88H PHOX2A_ENST00000544057.1_5'UTR NM_005169.3 NP_005160.2 O14813 PHX2A_HUMAN paired-like homeobox 2a 88 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 5 CCGCTGCTTGCGCTTCTCGTG 0.647000 16 32 0 0 0.006122 0 0 SNX13 23161 broad.mit.edu 37 7 17931175 17931175 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:17931175G>A ENST00000409389.1 - 4 484 c.312C>T c.(310-312)ctC>ctT p.L104L SNX13_ENST00000409604.1_Silent_p.L104L|SNX13_ENST00000428135.3_Silent_p.L104L Q9Y5W8 SNX13_HUMAN sorting nexin 13 104 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TCACTTGCTGGAGAGGTTCAT 0.338000 17 41 0 0 0.006122 0 0 PENK 5179 broad.mit.edu 37 8 57354089 57354089 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:57354089C>G ENST00000314922.3 - 2 622 c.546G>C c.(544-546)gtG>gtC p.V182V PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.V182V NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 182 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) ATCTCTTGCTCACTTCTTCCT 0.517000 40 78 0 0 0.008740 0 0 PDLIM5 10611 broad.mit.edu 37 4 95444920 95444920 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:95444920G>T ENST00000317968.4 + 3 278 c.142G>T c.(142-144)Gat>Tat p.D48Y PDLIM5_ENST00000450793.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D48Y|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000318007.5_Missense_Mutation_p.D48Y|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000508216.1_Missense_Mutation_p.D48Y NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 48 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AAGAATAGGCGATGTGGTTCT 0.378000 10 15 4.68919e-08 5.36919e-08 0.008291 1 0 TAF3 83860 broad.mit.edu 37 10 8006790 8006790 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:8006790C>T ENST00000344293.5 + 3 1523 c.1317C>T c.(1315-1317)tcC>tcT p.S439S NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 439 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CTTCCACTTCCGCGAACAATT 0.468000 25 98 0 0 0.018920 0 0 ANO4 121601 broad.mit.edu 37 12 101504206 101504206 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:101504206T>C ENST00000392979.3 + 22 2430 c.2069T>C c.(2068-2070)aTc>aCc p.I690T ANO4_ENST00000392977.3_Missense_Mutation_p.I725T|ANO4_ENST00000550015.1_Missense_Mutation_p.I245T|ANO4_ENST00000299222.9_Missense_Mutation_p.I245T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 725 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTCACAACTATCTTTGTGGCA 0.363000 HNSCC(74;0.22) 12 45 0 0 0.002450 0 0 HPS4 89781 broad.mit.edu 37 22 26861450 26861450 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:26861450G>A ENST00000398145.2 - 10 1390 c.774C>T c.(772-774)ctC>ctT p.L258L HPS4_ENST00000398141.1_Silent_p.L271L|HPS4_ENST00000336873.5_Silent_p.L258L|HPS4_ENST00000402105.3_Silent_p.L253L NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 258 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GGAACTCGTGGAGACTAATGG 0.488000 Hermansky-Pudlak syndrome 12 52 0 0 0.013537 0 0 ALK 238 broad.mit.edu 37 2 30142880 30142880 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:30142880G>C ENST00000389048.3 - 1 1552 c.646C>G c.(646-648)Ctc>Gtc p.L216V ALK_ENST00000431873.1_Missense_Mutation_p.L216V NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 216 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATCTGGAAGAGAAGGCGGGGC 0.562000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 19 12 0 0 0.010504 0 0 MYOCD 93649 broad.mit.edu 37 17 12666905 12666905 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:12666905G>C ENST00000425538.1 + 14 3105 c.2905G>C c.(2905-2907)Gat>Cat p.D969H MYOCD_ENST00000343344.4_Missense_Mutation_p.D921H|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 921 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CGATTTCCTGGATGTCACTGA 0.512000 3 34 0 0 0.004672 0 0 OR2G6 391211 broad.mit.edu 37 1 248685664 248685664 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:248685664G>A ENST00000343414.4 + 1 749 c.717G>A c.(715-717)ggG>ggA p.G239G NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCCTTTGGGACCTGTTCGT 0.458000 22 64 0 0 0.010504 0 0 CILP 8483 broad.mit.edu 37 15 65499247 65499247 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:65499247C>A ENST00000261883.4 - 4 463 c.297G>T c.(295-297)tgG>tgT p.W99C NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 99 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCGCAGGTGTCCAGTCAGTGG 0.632000 12 17 3.07112e-06 3.42339e-06 0.010729 1 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692174 31692174 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:31692174G>A ENST00000360542.3 - 1 433 c.180C>T c.(178-180)tgC>tgT p.C60C NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 60 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TTGGTTCACCGCAGGTCTCTT 0.567000 38 53 0 0 0.007835 0 0 TMEM143 55260 broad.mit.edu 37 19 48845932 48845932 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:48845932T>C ENST00000293261.3 - 6 1146 c.830A>G c.(829-831)cAg>cGg p.Q277R TMEM143_ENST00000541566.1_Missense_Mutation_p.Q167R|TMEM143_ENST00000435956.3_Missense_Mutation_p.Q242R|TMEM143_ENST00000436660.2_Missense_Mutation_p.Q212R|TMEM143_ENST00000377431.2_Missense_Mutation_p.Q177R NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 277 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CAGGGCGCGCTGCAGGGTGGG 0.637000 3 34 0 0 0.004672 0 0 FMN2 56776 broad.mit.edu 37 1 240601508 240601508 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:240601508G>A ENST00000319653.9 + 16 5288 c.5058G>A c.(5056-5058)gaG>gaA p.E1686E FMN2_ENST00000545751.1_Silent_p.E282E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1686 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTCTACAAGAGAGGTAGGTAT 0.388000 9 55 0 0 0.004482 0 0 RNF141 50862 broad.mit.edu 37 11 10555597 10555597 + Missense_Mutation SNP C C G rs149870408 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:10555597C>G ENST00000265981.2 - 2 251 c.109G>C c.(109-111)Gaa>Caa p.E37Q RNF141_ENST00000528665.1_Missense_Mutation_p.E37Q NM_016422.3 NP_057506.2 Q8WVD5 RN141_HUMAN ring finger protein 141 37 zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) CCAAGAAATTCTTCATAAGTT 0.393000 18 32 0 0 0.007413 0 0 MTA1 9112 broad.mit.edu 37 14 105911754 105911754 + Splice_Site SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:105911754G>C ENST00000331320.7 + 3 310 c.e3-1 MTA1_ENST00000406191.1_Splice_Site|MTA1_ENST00000405646.1_Splice_Site NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) TGCTGTTACAGACGGCCAATG 0.647000 20 50 0 0 0.014323 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120013 38120013 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:38120013C>T ENST00000406386.3 + 7 1705 c.1450C>T c.(1450-1452)Cgg>Tgg p.R484W RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 484 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) CTGTGCCCAGCGGGACAATCC 0.602000 30 110 0 0 0.004878 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603329 13603329 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:13603329G>C ENST00000040738.5 - 10 5330 c.5195C>G c.(5194-5196)gCa>gGa p.A1732G NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1732 DNA binding TCTGCCTTCTGCTCCTGTACA 0.502000 26 119 0 0 0.018920 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266186 3266186 + RNA SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:3266186C>A ENST00000576468.1 + 0 418 CAGACACACACCTCAGTGAAG 0.522000 32 31 5.45727e-16 6.69354e-16 0.008361 1 0 GLIS1 148979 broad.mit.edu 37 1 53980329 53980329 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:53980329G>T ENST00000312233.2 - 7 1893 c.1327C>A c.(1327-1329)Cct>Act p.P443T NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 443 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 ATGGGCAGAGGGGACAGATGG 0.657000 7 46 0.00198382 0.00211199 0.001984 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460238 107460238 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:107460238G>T ENST00000409382.3 - 2 806 c.196C>A c.(196-198)Cat>Aat p.H66N ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H66N|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H66N NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 66 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAGGGCTCATGTGCGGCGCCC 0.706000 7 39 5.4927e-09 6.34675e-09 0.004482 1 0 FAT2 2196 broad.mit.edu 37 5 150923577 150923577 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:150923577C>G ENST00000261800.5 - 9 7123 c.7111G>C c.(7111-7113)Gat>Cat p.D2371H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2371 Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCATTGATATCAGACACATTG 0.468000 20 60 0 0 0.010504 0 0 DOCK3 1795 broad.mit.edu 37 3 51198034 51198034 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:51198034A>G ENST00000266037.9 + 12 961 c.938A>G c.(937-939)tAc>tGc p.Y313C NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 313 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CACCTGCACTACAGGCGACCA 0.493000 9 10 0 0 0.004482 0 0 OR2W3 343171 broad.mit.edu 37 1 248059253 248059253 + Missense_Mutation SNP G G T rs141229039 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:248059253G>T ENST00000537741.1 + 3 622 c.365G>T c.(364-366)cGg>cTg p.R122L OR2W3_ENST00000360358.3_Missense_Mutation_p.R122L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 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;0.0319) GCCTATGACCGGTGTGTGGCT 0.602000 21 48 6.33239e-15 7.71696e-15 0.010504 1 0 RNF139 11236 broad.mit.edu 37 8 125498769 125498769 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:125498769C>T ENST00000303545.3 + 2 1251 c.879C>T c.(877-879)ggC>ggT p.G293G NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 293 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTGTACTGGGCATGAGTGCTG 0.408000 11 157 0 0 0.016723 0 0 MYO15A 51168 broad.mit.edu 37 17 18051508 18051508 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:18051508C>T ENST00000205890.5 + 31 7013 c.6675C>T c.(6673-6675)gaC>gaT p.D2225D NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2225 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGGCGCTGGACGTGGGCTGCT 0.672000 5 34 0 0 0.001984 0 0 EPB41L3 23136 broad.mit.edu 37 18 5489114 5489114 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:5489114C>A ENST00000341928.2 - 2 409 c.69G>T c.(67-69)gcG>gcT p.A23A EPB41L3_ENST00000544123.1_Silent_p.A23A|EPB41L3_ENST00000540638.2_Silent_p.A23A|EPB41L3_ENST00000342933.3_Silent_p.A23A|EPB41L3_ENST00000400111.3_Silent_p.A23A NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 23 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 cctgcgcccccgccgccTCCT 0.687000 19 20 7.45023e-12 8.82386e-12 0.010504 1 0 FNBP1 23048 broad.mit.edu 37 9 132687277 132687277 + Missense_Mutation SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:132687277A>C ENST00000420781.1 - 9 1167 c.949T>G c.(949-951)Tcc>Gcc p.S317A FNBP1_ENST00000446176.2_Missense_Mutation_p.S317A|FNBP1_ENST00000355681.3_Missense_Mutation_p.S317A|FNBP1_ENST00000478129.1_5'UTR Q96RU3 FNBP1_HUMAN formin binding protein 1 317 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTTCCTTTGGATTTGCCACCA 0.403000 T MLL AML 7 20 0 0 0.003080 0 0 OR6N2 81442 broad.mit.edu 37 1 158747203 158747203 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:158747203C>T ENST00000339258.1 - 1 222 c.223G>A c.(223-225)Gct>Act p.A75T NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) ATAGTGGTAGCTGTATACCAC 0.443000 19 104 0 0 0.007413 0 0 AASS 10157 broad.mit.edu 37 7 121726194 121726194 + Missense_Mutation SNP C C T rs117830956 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:121726194C>T ENST00000393376.1 - 18 2151 c.2056G>A c.(2056-2058)Gtt>Att p.V686I AASS_ENST00000417368.2_Missense_Mutation_p.V686I|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 686 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) ATGGACGTAACGGCATCAAGA 0.428000 4 39 0 0 0.009096 0 0 CORT 1325 broad.mit.edu 37 1 10510148 10510148 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:10510148C>T ENST00000320498.4 + 1 178 c.18C>T c.(16-18)aaC>aaT p.N6N APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|CORT_ENST00000377049.3_5'UTR|APITD1_ENST00000602787.1_Intron cortistatin breast(1)|endometrium(1)|stomach(1) 3 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;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) GACACAAAAACAGCTGGAGAT 0.517000 33 112 0 0 0.009535 0 0 NINJ2 4815 broad.mit.edu 37 12 674430 674430 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:674430C>A ENST00000305108.4 - 3 818 c.538G>T c.(538-540)Gct>Tct p.A180S NINJ2_ENST00000397265.3_Missense_Mutation_p.A127S|NINJ2_ENST00000542920.1_Missense_Mutation_p.A98S NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 134 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GCCCTGGCAGCCAGGAACCCT 0.562000 15 35 0.000308642 0.000335173 0.003163 1 0 LPPR4 9890 broad.mit.edu 37 1 99772332 99772332 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99772332G>C ENST00000370185.3 + 7 2555 c.2058G>C c.(2056-2058)aaG>aaC p.K686N LPPR4_ENST00000457765.1_Missense_Mutation_p.K628N|LPPR4_ENST00000370184.1_Missense_Mutation_p.K528N NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 686 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAGATCGCAAGAGAAGCAACA 0.512000 4 21 0 0 0.009096 0 0 XKR6 286046 broad.mit.edu 37 8 11058765 11058765 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:11058765G>A ENST00000416569.2 - 1 110 c.84C>T c.(82-84)ggC>ggT p.G28G XKR6_ENST00000297303.4_Silent_p.G28G NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 28 Gly-rich. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGTCCTCCTCGCCGCCGCTGC 0.716000 4 10 0 0 0.001168 0 0 DAAM1 23002 broad.mit.edu 37 14 59830421 59830421 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:59830421C>G ENST00000395125.1 + 23 2800 c.2777C>G c.(2776-2778)tCt>tGt p.S926C DAAM1_ENST00000360909.3_Missense_Mutation_p.S916C|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.S926C NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 926 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAGTTTGTGTCTGTTGTCAGC 0.463000 23 23 0 0 0.016522 0 0 AKAP11 11215 broad.mit.edu 37 13 42877626 42877626 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:42877626C>G ENST00000025301.2 + 8 4919 c.4744C>G c.(4744-4746)Ctt>Gtt p.L1582V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1582 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTTGTCACCTCTTACAGGTCA 0.453000 17 18 0 0 0.004007 0 0 KRT10 3858 broad.mit.edu 37 17 38975393 38975393 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38975393C>T ENST00000269576.5 - 7 1403 c.1394G>A c.(1393-1395)gGc>gAc p.G465D TMEM99_ENST00000301665.3_5'UTR NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 465 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) acttccgccgccgcgtccgcc 0.672000 11 22 0 0 0.013537 0 0 ZNF831 128611 broad.mit.edu 37 20 57767550 57767550 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:57767550C>G ENST00000371030.2 + 1 1476 c.1476C>G c.(1474-1476)ctC>ctG p.L492L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 492 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCACTCAGCTCTCCACCACCG 0.701000 24 59 0 0 0.018920 0 0 ITGA3 3675 broad.mit.edu 37 17 48166535 48166535 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:48166535T>C ENST00000007722.7 + 25 3107 c.3107T>C c.(3106-3108)aTc>aCc p.I1036T ITGA3_ENST00000320031.8_3'UTR P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 1033 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GCAGTGCGGATCCGGGAGGAG 0.562000 79 203 0 0 0.014410 0 0 SCAI 286205 broad.mit.edu 37 9 127904938 127904938 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:127904938C>G ENST00000336505.5 - 2 130 c.72G>C c.(70-72)gaG>gaC p.E24D SCAI_ENST00000373549.4_Missense_Mutation_p.E24D NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 24 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 GAGGCGGTTTCTCCACTGTGC 0.463000 4 32 0 0 0.009096 0 0 ZNF142 7701 broad.mit.edu 37 2 219509702 219509702 + Missense_Mutation SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:219509702T>G ENST00000411696.2 - 7 2316 c.1537A>C c.(1537-1539)Atg>Ctg p.M513L ZNF142_ENST00000449707.1_Missense_Mutation_p.M513L P52746 ZN142_HUMAN zinc finger protein 142 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ACCTCACACATCAGAGACTTG 0.597000 26 49 0 0 0.004656 0 0 JPH2 57158 broad.mit.edu 37 20 42788372 42788372 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:42788372C>A ENST00000372980.3 - 2 1927 c.1055G>T c.(1054-1056)cGc>cTc p.R352L NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 352 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CAGCATGCGGCGCTTGGTGTC 0.667000 15 40 6.49762e-13 7.76845e-13 0.006122 1 0 CDAN1 146059 broad.mit.edu 37 15 43020852 43020852 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:43020852C>T ENST00000356231.3 - 20 2825 c.2802G>A c.(2800-2802)cgG>cgA p.R934R NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 934 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTGCTTACTCCCGCCCCAGGG 0.557000 18 42 0 0 0.010504 0 0 PTPRG 5793 broad.mit.edu 37 3 62240846 62240846 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:62240846G>A ENST00000474889.1 + 16 2892 c.2515G>A c.(2515-2517)Gag>Aag p.E839K PTPRG_ENST00000295874.10_Missense_Mutation_p.E810K NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 839 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACACATCGGTGAGCTCTATTC 0.373000 24 39 0 0 0.008361 0 0 ZNF852 285346 broad.mit.edu 37 3 44542105 44542105 + Nonsense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:44542105G>C ENST00000436261.1 - 4 324 c.164C>G c.(163-165)tCa>tGa p.S55* ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 55 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 AGTCAGCTCTGAACTCTCCAT 0.418000 6 20 0 0 0.001984 0 0 PCDH7 5099 broad.mit.edu 37 4 30725930 30725930 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:30725930G>A ENST00000361762.2 + 1 3894 c.2886G>A c.(2884-2886)caG>caA p.Q962Q PCDH7_ENST00000543491.1_Silent_p.Q962Q NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 962 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CAAATGGACAGAGGTATGATA 0.473000 14 74 0 0 0.004990 0 0 CDS2 8760 broad.mit.edu 37 20 5159590 5159590 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:5159590C>G ENST00000460006.1 + 5 824 c.517C>G c.(517-519)Ctc>Gtc p.L173V CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.L53V|CDS2_ENST00000535100.1_5'UTR NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 173 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 TTCCTTTACTCTCTATCTAAT 0.408000 31 49 0 0 0.013726 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229783 87229783 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:87229783G>A ENST00000297524.3 - 3 1198 c.1095C>T c.(1093-1095)ttC>ttT p.F365F SLC7A13_ENST00000419776.2_Silent_p.F356F NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 365 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATGAACCCGTGAAAAAAATAT 0.338000 11 26 0 0 0.008291 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690737 242690737 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:242690737G>A ENST00000321264.4 + 8 1283 c.1074G>A c.(1072-1074)ctG>ctA p.L358L D2HGDH_ENST00000403782.1_Silent_p.L224L|D2HGDH_ENST00000486953.1_Intron NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 358 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCCACTTCCTGGAGCACGCGC 0.612000 21 27 0 0 0.014323 0 0 VPS54 51542 broad.mit.edu 37 2 64169644 64169644 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:64169644G>C ENST00000354504.3 - 8 1483 c.894C>G c.(892-894)ctC>ctG p.L298L VPS54_ENST00000409558.3_Silent_p.L439L|VPS54_ENST00000272322.4_Silent_p.L451L Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 451 protein transport|retrograde transport, endosome to Golgi p.L451L(1) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 AAATATCCTTGAGCAGATCAA 0.328000 12 12 0 0 0.003163 0 0 LILRP2 79166 broad.mit.edu 37 19 55222070 55222070 + RNA SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:55222070T>A ENST00000413439.1 + 0 1597 AGCACCAGGCTGAATTCCCCA 0.597000 75 37 0 0 0.014410 0 0 USP15 9958 broad.mit.edu 37 12 62783422 62783422 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:62783422G>A ENST00000280377.5 + 13 1653 c.1595G>A c.(1594-1596)aGa>aAa p.R532K USP15_ENST00000353364.3_Missense_Mutation_p.R503K|USP15_ENST00000393654.3_Missense_Mutation_p.R507K NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 532 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGATTTCACAGAATATTCGCT 0.284000 19 92 0 0 0.010504 0 0 GLRA3 8001 broad.mit.edu 37 4 175598396 175598396 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:175598396C>T ENST00000274093.3 - 7 1262 c.760G>A c.(760-762)Gga>Aga p.G254R GLRA3_ENST00000340217.5_Missense_Mutation_p.G254R NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 254 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGATAGTATCCCATTTGTCGC 0.428000 7 28 0 0 0.003080 0 0 HRH2 3274 broad.mit.edu 37 5 175110317 175110317 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:175110317C>T ENST00000231683.2 + 1 1854 c.81C>T c.(79-81)gtC>gtT p.V27V HRH2_ENST00000377291.2_Silent_p.V27V NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 27 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TCCTTGCGGTCCTCATCCTCA 0.582000 71 128 0 0 0.014410 0 0 FBXL20 84961 broad.mit.edu 37 17 37425091 37425091 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:37425091C>T ENST00000264658.6 - 12 1182 c.922G>A c.(922-924)Gag>Aag p.E308K FBXL20_ENST00000583610.1_Missense_Mutation_p.E308K|FBXL20_ENST00000577399.1_Missense_Mutation_p.E310K|FBXL20_ENST00000394294.3_Missense_Mutation_p.E276K NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 308 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TGAACACACTCTTCCAGGTCC 0.328000 28 223 0 0 0.009535 0 0 TAGLN2 8407 broad.mit.edu 37 1 159889539 159889539 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:159889539C>G ENST00000368097.4 - 3 577 c.267G>C c.(265-267)caG>caC p.Q89H TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.Q110H|TAGLN2_ENST00000320307.4_Missense_Mutation_p.Q89H NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 89 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTGCTCCATCTGCTTGAAGG 0.552000 66 138 0 0 0.014410 0 0 FKBP4 2288 broad.mit.edu 37 12 2907953 2907953 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:2907953G>A ENST00000001008.4 + 4 662 c.475G>A c.(475-477)Gaa>Aaa p.E159K RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 159 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) GACTCGCGGTGAAGGCTATGC 0.483000 24 68 0 0 0.003954 0 0 NAV3 89795 broad.mit.edu 37 12 78593140 78593140 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:78593140G>T ENST00000397909.2 + 37 6717 c.6544G>T c.(6544-6546)Gaa>Taa p.E2182* NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1983*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E2160*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E2160*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.E12* Q8IVL0 NAV3_HUMAN neuron navigator 3 2182 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAATCATACAGAACCAGTGAA 0.279000 HNSCC(70;0.22) 11 26 9.05144e-12 1.06869e-11 0.016723 1 0 SERPINA12 145264 broad.mit.edu 37 14 94962778 94962778 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:94962778C>A ENST00000341228.2 - 4 1632 c.837G>T c.(835-837)aaG>aaT p.K279N SERPINA12_ENST00000556881.1_Missense_Mutation_p.K279N NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 279 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) AGTGCTTCAGCTTGCCCTCAT 0.473000 50 71 3.94638e-17 4.87191e-17 0.014410 1 0 CYP4F3 4051 broad.mit.edu 37 19 15760024 15760024 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:15760024C>T ENST00000221307.7 + 6 628 c.580C>T c.(580-582)Cac>Tac p.H194Y CYP4F3_ENST00000586182.1_Missense_Mutation_p.H194Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.H194Y|CYP4F3_ENST00000585846.1_Missense_Mutation_p.H194Y NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 194 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CATGTTTGAGCACATCAGCCT 0.577000 73 30 0 0 0.014410 0 0 DPP6 1804 broad.mit.edu 37 7 154659728 154659728 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:154659728G>A ENST00000404039.1 + 18 2133 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K DPP6_ENST00000332007.3_Missense_Mutation_p.E518K|DPP6_ENST00000427557.1_Missense_Mutation_p.E473K|DPP6_ENST00000377770.3_Missense_Mutation_p.E580K NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 580 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGAAACAAATGAACATGTCAA 0.438000 4 19 0 0 0.014758 0 0 UNC5D 137970 broad.mit.edu 37 8 35579764 35579764 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:35579764G>T ENST00000287272.2 + 8 1006 c.986G>T c.(985-987)gGc>gTc p.G329V UNC5D_ENST00000404895.2_Missense_Mutation_p.G385V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G318V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G380V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G390V Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 385 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGTACTCGGGCTTGGGTGCT 0.522000 8 157 0.000274275 0.000299569 0.004482 1 0 SEMA6B 10501 broad.mit.edu 37 19 4548324 4548324 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:4548324A>G ENST00000586582.1 - 13 1715 c.1405T>C c.(1405-1407)Tct>Cct p.S469P SEMA6B_ENST00000301293.3_Missense_Mutation_p.S469P|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S469P NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 469 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGCCCAGACGTCCCTGAG 0.647000 36 25 0 0 0.019004 0 0 OR5M10 390167 broad.mit.edu 37 11 56344765 56344765 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:56344765C>A ENST00000526812.2 - 1 498 c.433G>T c.(433-435)Gtc>Ttc p.V145F NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GGCACAGTGACCAGAGAGATG 0.438000 58 32 5.86059e-21 7.33057e-21 0.014410 1 0 FLCN 201163 broad.mit.edu 37 17 17131313 17131313 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:17131313C>G ENST00000285071.4 - 4 593 c.139G>C c.(139-141)Gaa>Caa p.E47Q FLCN_ENST00000389169.5_Missense_Mutation_p.E47Q|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.E47Q NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 47 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CCTTCCTCTTCTTCCGCCTGC 0.652000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 19 24 0 0 0.008871 0 0 FANCD2 2177 broad.mit.edu 37 3 10136010 10136010 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:10136010G>T ENST00000287647.3 + 40 4019 c.3926G>T c.(3925-3927)tGt>tTt p.C1309F FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.C1309F|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.C1309F NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1309 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CTGAAGCAATGTATGCCGCTC 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 111 153 5.64391e-42 7.178e-42 0.014410 1 0 A4GNT 51146 broad.mit.edu 37 3 137843425 137843425 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:137843425C>G ENST00000236709.3 - 3 905 c.704G>C c.(703-705)tGg>tCg p.W235S NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 235 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AAGTTTACACCATACCCTCAA 0.463000 24 56 0 0 0.014323 0 0 AOX1 316 broad.mit.edu 37 2 201515816 201515816 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:201515816G>A ENST00000374700.2 + 26 3208 c.2967G>A c.(2965-2967)agG>agA p.R989R AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 989 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTCCTTGAGGAAAGTTGCTG 0.453000 21 134 0 0 0.014323 0 0 OR2H2 7932 broad.mit.edu 37 6 29556415 29556415 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:29556415C>T ENST00000383640.2 + 1 733 c.694C>T c.(694-696)Cgg>Tgg p.R232W GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 232 KGR -> TAW (in Ref. 1; AAB36567). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TGCAAAAGGGCGGAGGAAAGC 0.522000 10 85 0 0 0.006214 0 0 BCL9 607 broad.mit.edu 37 1 147091285 147091285 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:147091285C>A ENST00000234739.3 + 8 2064 c.1324C>A c.(1324-1326)Cca>Aca p.P442T NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 442 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) ACCCTTTTCTCCAGATGAAAT 0.542000 T """IGH@, IGL@""" B-ALL 16 38 3.45872e-05 3.82173e-05 0.004007 1 0 OR52B4 143496 broad.mit.edu 37 11 4388806 4388806 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:4388806G>C ENST00000408920.2 - 1 810 c.720C>G c.(718-720)ctC>ctG p.L240L NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAATGTGTTGAGAGCTTTGT 0.453000 13 29 0 0 0.013537 0 0 KRIT1 889 broad.mit.edu 37 7 91851243 91851243 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:91851243C>T ENST00000394507.1 - 15 2319 c.1536G>A c.(1534-1536)gtG>gtA p.V512V KRIT1_ENST00000340022.2_Silent_p.V512V|KRIT1_ENST00000412043.2_Silent_p.V512V|KRIT1_ENST00000394503.2_Silent_p.V464V|KRIT1_ENST00000394505.2_Silent_p.V512V NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 512 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGGGAAGTCTCACATCTCTTC 0.378000 83 94 0 0 0.014410 0 0 DNAH3 55567 broad.mit.edu 37 16 20996669 20996669 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:20996669T>C ENST00000261383.3 - 48 7394 c.7395A>G c.(7393-7395)gcA>gcG p.A2465A DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2465 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGTCATTGCCTGCGTAGTTCT 0.537000 31 14 0 0 0.007291 0 0 RNF10 9921 broad.mit.edu 37 12 121001687 121001687 + Missense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:121001687A>T ENST00000325954.4 + 10 2067 c.1606A>T c.(1606-1608)Agg>Tgg p.R536W RNF10_ENST00000413266.2_Missense_Mutation_p.R541W NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 536 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCCTGGAGAGGAGCCCCGA 0.567000 33 77 0 0 0.019004 0 0 TRIM4 89122 broad.mit.edu 37 7 99490035 99490035 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:99490035C>A ENST00000355947.2 - 7 1383 c.1254G>T c.(1252-1254)gcG>gcT p.A418A TRIM4_ENST00000349062.2_Silent_p.A392A NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 418 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) TCCAATAAATCGCCCAGATGC 0.542000 80 958 2.94884e-30 3.72537e-30 0.014410 1 0 PICK1 9463 broad.mit.edu 37 22 38466861 38466861 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:38466861G>T ENST00000404072.3 + 7 803 c.456G>T c.(454-456)agG>agT p.R152S PICK1_ENST00000356976.3_Missense_Mutation_p.R152S|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 152 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TTGTCAAGAGGCTAGAGGAGC 0.627000 10 32 0.000673444 0.000727166 0.008291 1 0 ANO7 50636 broad.mit.edu 37 2 242140746 242140746 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:242140746C>T ENST00000274979.8 + 7 853 c.750C>T c.(748-750)ttC>ttT p.F250F ANO7_ENST00000402430.3_Silent_p.F249F NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 250 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 ACACCTTCTTCACAAGCACCA 0.592000 21 36 0 0 0.008871 0 0 CAPN5 726 broad.mit.edu 37 11 76833722 76833722 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:76833722C>G ENST00000278559.3 + 12 1893 c.1704C>G c.(1702-1704)ttC>ttG p.F568L CAPN5_ENST00000529629.1_Missense_Mutation_p.F568L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.F608L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 568 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 AAGGCATCTTCTACCGCAAGA 0.582000 69 24 0 0 0.014410 0 0 DNAH3 55567 broad.mit.edu 37 16 21069459 21069459 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:21069459G>T ENST00000261383.3 - 27 3871 c.3872C>A c.(3871-3873)tCc>tAc p.S1291Y DNAH3_ENST00000415178.1_Missense_Mutation_p.S1291Y NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1291 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCAAAAGATGGAGGAGACACA 0.488000 8 44 0.00621372 0.00659663 0.006214 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72169178 72169178 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:72169178C>T ENST00000555818.1 + 12 3950 c.3602C>T c.(3601-3603)aCg>aTg p.T1201M SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1201 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAAAATCCACGCCTAGCTGG 0.478000 25 28 0 0 0.018920 0 0 TENC1 23371 broad.mit.edu 37 12 53452199 53452199 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:53452199C>A ENST00000314250.6 + 15 1485 c.1195C>A c.(1195-1197)Ccc>Acc p.P399T TENC1_ENST00000451358.1_Missense_Mutation_p.P399T|TENC1_ENST00000552570.1_Missense_Mutation_p.P399T|TENC1_ENST00000549700.1_Missense_Mutation_p.P399T|TENC1_ENST00000546602.1_Missense_Mutation_p.P399T|TENC1_ENST00000379902.3_Missense_Mutation_p.P275T|TENC1_ENST00000314276.3_Missense_Mutation_p.P409T NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 399 C2 tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GCTCACTTTCCCCAAGGACCA 0.627000 8 48 2.17888e-05 2.4146e-05 0.006214 1 0 ALPK3 57538 broad.mit.edu 37 15 85411403 85411403 + Nonsense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:85411403C>T ENST00000258888.5 + 14 5607 c.5440C>T c.(5440-5442)Cag>Tag p.Q1814* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1814 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCCTCCCACCAGTGCAATGC 0.632000 118 134 0 0 0.014410 0 0 PNPLA3 80339 broad.mit.edu 37 22 44322984 44322984 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:44322984C>T ENST00000216180.3 + 2 530 c.357C>T c.(355-357)acC>acT p.T119T PNPLA3_ENST00000423180.2_Silent_p.T115T|PNPLA3_ENST00000478713.1_3'UTR NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 119 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) TCTCTCTTACCAGAGTGTCTG 0.493000 20 46 0 0 0.014323 0 0 NTRK3 4916 broad.mit.edu 37 15 88423650 88423650 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:88423650G>A ENST00000394480.1 - 18 2464 c.2143C>T c.(2143-2145)Cac>Tac p.H715Y NTRK3_ENST00000357724.2_Missense_Mutation_p.H721Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.H707Y|NTRK3_ENST00000360948.2_Missense_Mutation_p.H729Y NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 729 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCATGGTGTGTCCTCCCACC 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 4 51 0 0 0.014758 0 0 MEGF8 1954 broad.mit.edu 37 19 42861133 42861133 + Splice_Site SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:42861133G>A ENST00000334370.4 + 26 5264 c.4629_splice c.e26+1 p.K1543_splice MEGF8_ENST00000251268.6_Splice_Site_p.K1610_splice NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1610 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGCAGGAGAAGGTGAGCATCT 0.622000 5 9 0 0 0.001168 0 0 MED12 9968 broad.mit.edu 37 X 70340946 70340946 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:70340946G>C ENST00000333646.6 + 5 878 c.679G>C c.(679-681)Gag>Cag p.E227Q MED12_ENST00000374102.1_Missense_Mutation_p.E227Q|MED12_ENST00000374080.3_Missense_Mutation_p.E227Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 227 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCATGATGTAGAGGTGGCAAT 0.557000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 24 59 0 0 0.003954 0 0 OR4M1 441670 broad.mit.edu 37 14 20248685 20248685 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:20248685C>A ENST00000315957.4 + 1 285 c.204C>A c.(202-204)ctC>ctA p.L68L NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTGGCCCTCCTTGATATTT 0.423000 69 460 3.13743e-37 3.97688e-37 0.014410 1 0 RBM34 23029 broad.mit.edu 37 1 235318412 235318412 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:235318412C>T ENST00000408888.3 - 4 611 c.381G>A c.(379-381)gcG>gcA p.A127A RBM34_ENST00000366606.3_Silent_p.A122A P42696 RBM34_HUMAN RNA binding motif protein 34 127 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) AATCAGCACTCGCTAGAGCGC 0.393000 22 33 0 0 0.018920 0 0 JUP 3728 broad.mit.edu 37 17 39777023 39777023 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:39777023G>A ENST00000540235.1 - 9 1545 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C KRT17_ENST00000311208.8_Missense_Mutation_p.R357C P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) ATCTCGCAGCGAAGCTGGGCC 0.627000 20 120 0 0 0.012319 0 0 ZNF184 7738 broad.mit.edu 37 6 27420788 27420788 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:27420788C>A ENST00000211936.6 - 6 834 c.550G>T c.(550-552)Ggg>Tgg p.G184W ZNF184_ENST00000377419.1_Missense_Mutation_p.G184W NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ACACTTTTCCCAAATTCATTA 0.398000 21 146 1.9806e-07 2.24745e-07 0.014323 1 0 DDX26B 203522 broad.mit.edu 37 X 134679428 134679428 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:134679428G>C ENST00000370752.4 + 3 604 c.270G>C c.(268-270)caG>caC p.Q90H DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 90 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CTCTCGGTCAGGCTCTAAGAT 0.358000 30 40 0 0 0.007291 0 0 MLLT10 8028 broad.mit.edu 37 10 22016856 22016856 + Splice_Site SNP C C G rs138169869 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:22016856C>G ENST00000377072.3 + 17 2458 c.2111_splice c.e17+1 p.R704_splice MLLT10_ENST00000377059.3_Splice_Site_p.R688_splice|MLLT10_ENST00000307729.7_Splice_Site_p.R688_splice|MLLT10_ENST00000446906.2_Splice_Site_p.R688_splice NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 704 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TCTCTCGCCACGGTAAGCGCT 0.423000 T """MLL, PICALM, CDK6""" AL 7 14 0 0 0.003080 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953546 32953546 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:32953546C>T ENST00000321639.5 + 2 796 c.468C>T c.(466-468)ttC>ttT p.F156F NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 156 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GGGACGACTTCGGCGTCACCG 0.697000 8 65 0 0 0.006214 0 0 OR8S1 341568 broad.mit.edu 37 12 48920124 48920124 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:48920124C>T ENST00000310194.1 + 1 710 c.710C>T c.(709-711)gCc>gTc p.A237V OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AGAAGCAAGGCCTTCTCCACC 0.517000 17 71 0 0 0.004990 0 0 SCN1A 6323 broad.mit.edu 37 2 166930121 166930121 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:166930121G>A ENST00000423058.2 - 1 28 c.11C>T c.(10-12)aCa>aTa p.T4I AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T4I|SCN1A_ENST00000375405.3_Missense_Mutation_p.T4I|SCN1A_ENST00000303395.4_Missense_Mutation_p.T4I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 4 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TACAAGCACTGTTTGCTCCAT 0.383000 25 85 0 0 0.005443 0 0 FAR2 55711 broad.mit.edu 37 12 29446406 29446406 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:29446406C>G ENST00000182377.4 + 3 631 c.363C>G c.(361-363)ctC>ctG p.L121L FAR2_ENST00000536681.2_Silent_p.L121L|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.L24L NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 121 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 ACGACACTCTCAGGTACATTC 0.383000 9 122 0 0 0.006214 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021288 51021288 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:51021288G>A ENST00000599957.1 - 3 1879 c.1682C>T c.(1681-1683)aCg>aTg p.T561M LRRC4B_ENST00000389201.3_Missense_Mutation_p.T561M Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 561 cell junction|integral to membrane|presynaptic membrane p.T561M(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGCGTTCTCCGTCACATCCGT 0.657000 12 27 0 0 0.010729 0 0 GALNT14 79623 broad.mit.edu 37 2 31165110 31165110 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:31165110C>T ENST00000349752.5 - 9 1527 c.888G>A c.(886-888)ggG>ggA p.G296G GALNT14_ENST00000420311.2_Silent_p.G261G|GALNT14_ENST00000356174.3_Silent_p.G263G|GALNT14_ENST00000324589.5_Silent_p.G301G|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.G276G NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 296 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TATCATATTTCCCCAGGTAAT 0.493000 48 19 0 0 0.014410 0 0 SKP2 6502 broad.mit.edu 37 5 36166718 36166718 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:36166718C>T ENST00000274255.6 + 4 686 c.490C>T c.(490-492)Cgc>Tgc p.R164C SKP2_ENST00000274254.5_Missense_Mutation_p.R164C|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_5'UTR NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 164 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATTGCCTTCCGCTGCCCACG 0.453000 15 45 0 0 0.004990 0 0 EYS 346007 broad.mit.edu 37 6 66112465 66112465 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:66112465C>A ENST00000503581.1 - 7 1627 c.1090G>T c.(1090-1092)Gat>Tat p.D364Y EYS_ENST00000393380.2_Missense_Mutation_p.D364Y|EYS_ENST00000370616.2_Missense_Mutation_p.D364Y|EYS_ENST00000370618.3_Missense_Mutation_p.D364Y|EYS_ENST00000370621.3_Missense_Mutation_p.D364Y|EYS_ENST00000342421.5_Missense_Mutation_p.D364Y NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 364 EGF-like 4. 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 CAAAGCAAATCTGTAAATATT 0.303000 16 29 4.7546e-09 5.51069e-09 0.004007 1 0 ARHGEF4 50649 broad.mit.edu 37 2 131797647 131797647 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:131797647G>A ENST00000392953.3 + 7 1325 c.806G>A c.(805-807)gGa>gAa p.G269E ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G269E|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G269E|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G269E|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G198E|ARHGEF4_ENST00000428230.2_Intron NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 269 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GGGAACAGCGGAGCGGAGGAC 0.672000 5 12 0 0 0.014758 0 0 ACIN1 22985 broad.mit.edu 37 14 23549790 23549790 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23549790C>G ENST00000262710.1 - 6 1255 c.928G>C c.(928-930)Gag>Cag p.E310Q ACIN1_ENST00000605057.1_Missense_Mutation_p.E252Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.E310Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E270Q NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 310 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTAGGTATCTCTTCCCCTTCT 0.458000 23 58 0 0 0.015359 0 0 C15orf54 400360 broad.mit.edu 37 15 39544847 39544847 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:39544847G>A ENST00000318578.3 + 2 879 c.511G>A c.(511-513)Gaa>Aaa p.E171K RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.E171K NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 171 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TCATTTCATTGAAGTGTTCAA 0.453000 22 38 0 0 0.012319 0 0 SYNRG 11276 broad.mit.edu 37 17 35937553 35937553 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:35937553C>G ENST00000339208.6 - 7 888 c.748G>C c.(748-750)Gat>Cat p.D250H SYNRG_ENST00000394378.2_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.D250H|SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000588194.1_Intron NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 250 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACACATCCATCTACAGCAACC 0.438000 117 518 0 0 0.014410 0 0 KIRREL 55243 broad.mit.edu 37 1 158064493 158064493 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:158064493A>G ENST00000368172.1 + 11 1311 c.1299A>G c.(1297-1299)gcA>gcG p.A433A KIRREL_ENST00000359209.6_Silent_p.A619A|KIRREL_ENST00000360089.4_Silent_p.A455A|KIRREL_ENST00000368173.3_Silent_p.A635A|KIRREL_ENST00000392272.2_Silent_p.A516A|KIRREL_ENST00000416935.2_Silent_p.A519A Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 619 Ig-like C2-type 5. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CTTCCAGGGCAGTGCTCTATG 0.637000 7 49 0 0 0.001984 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711485 140711485 + Nonsense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:140711485A>T ENST00000517417.1 + 1 1234 c.1234A>T c.(1234-1236)Aga>Tga p.R412* PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.R412* 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) AACACTGGACAGAGAACTTAT 0.368000 24 34 0 0 0.003954 0 0 ANAPC4 29945 broad.mit.edu 37 4 25394003 25394003 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:25394003G>A ENST00000315368.3 + 10 891 c.749G>A c.(748-750)cGg>cAg p.R250Q ANAPC4_ENST00000510092.1_Missense_Mutation_p.R250Q NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GAAGTAACTCGGATGGCCAGA 0.343000 11 52 0 0 0.016723 0 0 USPL1 10208 broad.mit.edu 37 13 31205581 31205581 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:31205581C>G ENST00000255304.4 + 4 1180 c.838C>G c.(838-840)Cta>Gta p.L280V USPL1_ENST00000465952.1_3'UTR NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 280 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AAATACACTTCTATATACCAG 0.373000 24 11 0 0 0.016522 0 0 TRO 7216 broad.mit.edu 37 X 54956769 54956769 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:54956769C>A ENST00000173898.7 + 12 3724 c.3612C>A c.(3610-3612)agC>agA p.S1204R TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.S735R|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S807R NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1204 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ATGGGTTAAGCACCAATGCTG 0.552000 23 14 3.62473e-10 4.24004e-10 0.012319 1 0 OR4X2 119764 broad.mit.edu 37 11 48267148 48267148 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:48267148G>A ENST00000302329.3 + 1 541 c.493G>A c.(493-495)Gtg>Atg p.V165M NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGGCCCCAATGTGATCAATCA 0.493000 78 191 0 0 0.014410 0 0 PXDN 7837 broad.mit.edu 37 2 1657494 1657494 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:1657494A>G ENST00000252804.4 - 16 2060 c.2010T>C c.(2008-2010)gtT>gtC p.V670V NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 670 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GTGCCTGTTCAACTGTGTAAG 0.498000 4 2 0 0 0.009096 0 0 DISP1 84976 broad.mit.edu 37 1 223176456 223176456 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:223176456G>A ENST00000284476.6 + 8 1881 c.1717G>A c.(1717-1719)Gat>Aat p.D573N NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 573 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGGAGCAGATGATGCTTTTGT 0.403000 32 60 0 0 0.008361 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999232 30999232 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:30999232G>T ENST00000297679.5 + 7 931 c.838G>T c.(838-840)Gga>Tga p.G280* HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 280 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGGCCCCTGCGGACTGCGGCT 0.642000 114 76 4.37143e-48 5.57835e-48 0.014410 1 0 ZNF77 58492 broad.mit.edu 37 19 2934107 2934107 + Nonsense_Mutation SNP G G A rs146879198 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:2934107G>A ENST00000314531.4 - 4 1110 c.1018C>T c.(1018-1020)Cga>Tga p.R340* NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CCATGTTCTCGAAGAGACGAG 0.493000 24 47 0 0 0.014323 0 0 KIAA0368 23392 broad.mit.edu 37 9 114133964 114133964 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:114133964T>C ENST00000259335.4 - 44 5207 c.5208A>G c.(5206-5208)ccA>ccG p.P1736P KIAA0368_ENST00000374378.3_Silent_p.P22P|KIAA0368_ENST00000338205.5_Silent_p.P1558P NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TTCCGAGATATGGAGGTACTA 0.483000 78 88 0 0 0.014410 0 0 OTOR 56914 broad.mit.edu 37 20 16730565 16730565 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:16730565G>T ENST00000246081.2 + 3 317 c.273G>T c.(271-273)caG>caT p.Q91H OTOR_ENST00000486129.1_3'UTR NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 91 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 GTGATGGCCAGGACGAGATGG 0.502000 5 25 0.00116845 0.00125451 0.001168 1 0 PCED1A 64773 broad.mit.edu 37 20 2816190 2816190 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:2816190C>A ENST00000360652.2 - 8 1785 c.1283G>T c.(1282-1284)cGg>cTg p.R428L PCED1A_ENST00000356872.3_Missense_Mutation_p.R377L NM_022760.3 NP_073597.2 PC-esterase domain containing 1A GTGTCTGAGCCGCTGCCTGCA 0.622000 39 22 1.07121e-22 1.3488e-22 0.006999 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242162301 242162301 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:242162301G>C ENST00000357246.3 - 1 74 c.10C>G c.(10-12)Cca>Gca p.P4A NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 4 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATTTTCTGTGGAGGCGGCATT 0.468000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 56 0 0 0.016522 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27886720 27886720 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:27886720G>A ENST00000326019.6 + 1 383 c.101G>A c.(100-102)aGg>aAg p.R34K NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 34 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GACGTGGACAGGAACGTAAAG 0.572000 21 80 0 0 0.008871 0 0 LIN28B 389421 broad.mit.edu 37 6 105406144 105406144 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:105406144G>A ENST00000345080.4 + 2 384 c.181G>A c.(181-183)Gat>Aat p.D61N NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 61 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TATTCCAGTCGATGTATTTGT 0.458000 6 66 0 0 0.001984 0 0 GDF3 9573 broad.mit.edu 37 12 7848123 7848123 + Nonsense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:7848123G>A ENST00000329913.3 - 1 249 c.202C>T c.(202-204)Cga>Tga p.R68* NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 68 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CATAAGTCTCGGGAGACCCCA 0.498000 6 71 0 0 0.001168 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102817 13102817 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:13102817C>T ENST00000228887.1 - 1 501 c.502G>A c.(502-504)Gtg>Atg p.V168M RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V168M NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 168 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ACAAAGTCCACATTGAGCTGG 0.478000 11 55 0 0 0.008291 0 0 SGCE 8910 broad.mit.edu 37 7 94228233 94228233 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:94228233C>G ENST00000415788.2 - 10 1302 c.1215G>C c.(1213-1215)aaG>aaC p.K405N SGCE_ENST00000447873.1_Missense_Mutation_p.K360N|SGCE_ENST00000445866.2_Missense_Mutation_p.K369N|SGCE_ENST00000265735.7_Missense_Mutation_p.K369N|SGCE_ENST00000437425.2_Missense_Mutation_p.K328N|SGCE_ENST00000428696.2_Missense_Mutation_p.K360N O43556 SGCE_HUMAN sarcoglycan, epsilon 369 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTCGAAGCTCCTTGGTAGATT 0.418000 17 164 0 0 0.004990 0 0 IGLV3-22 28795 broad.mit.edu 37 22 23047125 23047125 + RNA SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:23047125C>A ENST00000390307.2 + 0 227 TGACTGGTACCAGCAGAAGCC 0.557000 6 43 8.12818e-05 8.92922e-05 0.001984 1 0 PDE6B 5158 broad.mit.edu 37 4 654380 654380 + Missense_Mutation SNP G G A rs144664551 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:654380G>A ENST00000255622.6 + 12 1635 c.1592G>A c.(1591-1593)cGa>cAa p.R531Q PDE6B_ENST00000429163.2_Missense_Mutation_p.R252Q|PDE6B_ENST00000496514.1_Missense_Mutation_p.R531Q NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 531 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGCGTGGTCCGAAAGTTCCAG 0.587000 5 26 0 0 0.001984 0 0 OR51B5 282763 broad.mit.edu 37 11 5364617 5364617 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:5364617G>A ENST00000300773.2 - 1 192 c.138C>T c.(136-138)ctC>ctT p.L46L HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCTTAATGAGAAGAAGGA 0.493000 15 22 0 0 0.003163 0 0 SSH2 85464 broad.mit.edu 37 17 27959598 27959598 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:27959598C>T ENST00000269033.3 - 15 2684 c.2533G>A c.(2533-2535)Gag>Aag p.E845K SSH2_ENST00000540801.1_Missense_Mutation_p.E872K|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 845 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTTCCCCCTCAGCTGGTTCC 0.577000 23 177 0 0 0.014323 0 0 PSMD14 10213 broad.mit.edu 37 2 162242025 162242025 + Silent SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:162242025A>C ENST00000409682.3 + 8 1217 c.513A>C c.(511-513)ggA>ggC p.G171G NM_005805.5 NP_005796.1 O00487 PSDE_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 171 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 12 TGGTCTTAGGACATGAACCAA 0.318000 7 24 0 0 0.003080 0 0 AP1S3 130340 broad.mit.edu 37 2 224642491 224642491 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:224642491C>A ENST00000443700.1 - 2 250 c.99G>T c.(97-99)cgG>cgT p.R33R AP1S3_ENST00000396653.2_Silent_p.R33R|AP1S3_ENST00000396654.2_Silent_p.R33R|AP1S3_ENST00000409375.1_Silent_p.R33R|AP1S3_ENST00000446015.2_Silent_p.R33R|AP1S3_ENST00000423110.1_Silent_p.R33R Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 33 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) GAACAATTTCCCGGGTGATCT 0.403000 19 27 0.00074312 0.000800121 0.006122 1 0 SNX14 57231 broad.mit.edu 37 6 86227558 86227558 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:86227558G>A ENST00000314673.3 - 23 2360 c.2184C>T c.(2182-2184)ttC>ttT p.F728F SNX14_ENST00000513865.1_Silent_p.F447F|SNX14_ENST00000369627.2_Silent_p.F719F|SNX14_ENST00000346348.3_Silent_p.F675F|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Silent_p.F676F NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 728 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity p.F728F(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AAGAATTAATGAAATTCATGA 0.343000 5 36 0 0 0.014758 0 0 PDPR 55066 broad.mit.edu 37 16 70166109 70166109 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:70166109G>T ENST00000288050.4 + 9 1860 c.903G>T c.(901-903)ctG>ctT p.L301L PDPR_ENST00000568530.1_Silent_p.L301L|PDPR_ENST00000398122.3_Silent_p.L201L|PDPR_ENST00000562100.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 301 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GTGGCATCCTGTCTGGGGGCT 0.468000 23 59 3.62531e-18 4.49017e-18 0.019004 1 0 LPPR4 9890 broad.mit.edu 37 1 99771294 99771294 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99771294C>A ENST00000370185.3 + 7 1517 c.1020C>A c.(1018-1020)caC>caA p.H340Q LPPR4_ENST00000457765.1_Missense_Mutation_p.H282Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.H182Q NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 340 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGTTTCAGCACAGAGACGCCC 0.448000 36 52 1.36239e-07 1.55059e-07 0.015359 1 0 ATP10D 57205 broad.mit.edu 37 4 47514737 47514737 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:47514737C>G ENST00000273859.3 + 2 449 c.180C>G c.(178-180)ttC>ttG p.F60L ATP10D_ENST00000504445.1_Missense_Mutation_p.F60L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 60 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCCAGCCCTTCAAGGATGAGT 0.463000 11 50 0 0 0.010729 0 0 LZTS1 11178 broad.mit.edu 37 8 20110540 20110540 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:20110540C>T ENST00000381569.1 - 3 1259 c.902G>A c.(901-903)cGc>cAc p.R301H LZTS1_ENST00000265801.6_Missense_Mutation_p.R301H|LZTS1_ENST00000522290.1_Missense_Mutation_p.R301H Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 301 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GTCCCTGCAGCGCCGCGGCCG 0.682000 11 47 0 0 0.008291 0 0 TOE1 114034 broad.mit.edu 37 1 45808899 45808899 + Missense_Mutation SNP C C T rs145913038 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:45808899C>T ENST00000372090.5 + 8 1641 c.1058C>T c.(1057-1059)cCg>cTg p.P353L TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.P273L NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 353 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) TTGAACCTACCGGGGACACAG 0.557000 22 94 0 0 0.012319 0 0 ABCC9 10060 broad.mit.edu 37 12 22005368 22005368 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:22005368C>A ENST00000261200.4 - 21 2576 c.2577G>T c.(2575-2577)ctG>ctT p.L859L ABCC9_ENST00000345162.2_Silent_p.L823L|ABCC9_ENST00000261201.4_Silent_p.L859L|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 859 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGTCATCTTGCAGGAATTTCA 0.403000 7 73 1.06961e-07 1.22103e-07 0.003080 1 0 SPHKAP 80309 broad.mit.edu 37 2 228996711 228996711 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:228996711G>A ENST00000392056.3 - 2 169 c.123C>T c.(121-123)atC>atT p.I41I SPHKAP_ENST00000344657.5_Silent_p.I41I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 41 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TACAGGCTGTGATGGAGTTCC 0.468000 26 96 0 0 0.004656 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119558 17119558 + RNA SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:17119558A>T ENST00000426585.1 + 0 370 ATTCCTTCGGAGTATCGTTCT 0.353000 17 33 0 0 0.006122 0 0 SPRTN 83932 broad.mit.edu 37 1 231487114 231487114 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:231487114C>T ENST00000391858.4 + 4 1795 c.515C>T c.(514-516)cCg>cTg p.P172L SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000008440.9_Missense_Mutation_p.P129L|SPRTN_ENST00000295050.7_Missense_Mutation_p.P172L SprT-like N-terminal domain TGCAATGGGCCGTGCCAGCAC 0.498000 13 50 0 0 0.016723 0 0 USP29 57663 broad.mit.edu 37 19 57640670 57640670 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:57640670C>G ENST00000254181.4 + 4 1081 c.627C>G c.(625-627)aaC>aaG p.N209K USP29_ENST00000598197.1_Missense_Mutation_p.N209K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 209 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATAGGAAGAACCCATCAAGTT 0.353000 10 54 0 0 0.008291 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188009 37188009 + RNA SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:37188009C>T ENST00000425901.2 + 0 1851 NR_033753.2 TATTATGAGACGTCCATGCCA 0.507000 15 100 0 0 0.003163 0 0 WWC1 23286 broad.mit.edu 37 5 167826495 167826495 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:167826495C>T ENST00000265293.4 + 5 1015 c.513C>T c.(511-513)gtC>gtT p.V171V WWC1_ENST00000521089.1_Silent_p.V171V NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 171 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CCCTCCAGGTCAACAAGCTGA 0.577000 9 29 0 0 0.006214 0 0 CDK12 51755 broad.mit.edu 37 17 37619117 37619117 + Missense_Mutation SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:37619117A>C ENST00000447079.4 + 1 826 c.793A>C c.(793-795)Agt>Cgt p.S265R CDK12_ENST00000430627.2_Missense_Mutation_p.S265R NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 265 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CTACAAGAAAAGTCCTGGAAG 0.537000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 29 304 0 0 0.006320 0 0 CACNA1C 775 broad.mit.edu 37 12 2760808 2760808 + Silent SNP C C T rs150092451 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:2760808C>T ENST00000399655.1 + 32 4213 c.3948C>T c.(3946-3948)aaC>aaT p.N1316N CACNA1C_ENST00000399644.1_Silent_p.N1316N|CACNA1C_ENST00000399597.1_Silent_p.N1316N|CACNA1C_ENST00000399595.1_Silent_p.N1305N|CACNA1C_ENST00000399641.1_Silent_p.N1316N|CACNA1C_ENST00000347598.4_Silent_p.N1364N|CACNA1C_ENST00000399629.1_Silent_p.N1333N|CACNA1C_ENST00000399649.1_Silent_p.N1303N|CACNA1C_ENST00000399634.1_Silent_p.N1316N|CACNA1C_ENST00000335762.5_Silent_p.N1341N|CACNA1C_ENST00000399601.1_Silent_p.N1316N|CACNA1C_ENST00000399637.1_Silent_p.N1316N|CACNA1C_ENST00000399638.1_Silent_p.N1344N|CACNA1C_ENST00000399617.1_Silent_p.N1316N|CACNA1C_ENST00000406454.3_Silent_p.N1316N|CACNA1C_ENST00000399591.1_Silent_p.N1305N|CACNA1C_ENST00000344100.3_Silent_p.N1338N|CACNA1C_ENST00000402845.3_Silent_p.N1316N|CACNA1C_ENST00000399603.1_Silent_p.N1316N|CACNA1C_ENST00000327702.7_Silent_p.N1316N|CACNA1C_ENST00000399621.1_Silent_p.N1316N|CACNA1C_ENST00000399606.1_Silent_p.N1336N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1364 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.N851N(1)|p.N1394N(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTCCAGAACGCAGAGGAAA 0.617000 28 73 0 0 0.013726 0 0 GPC6 10082 broad.mit.edu 37 13 95050757 95050757 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:95050757C>A ENST00000377047.4 + 8 1942 c.1327C>A c.(1327-1329)Cag>Aag p.Q443K NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 443 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTCACCAACCAGATCAACAA 0.478000 19 20 7.87624e-14 9.50668e-14 0.016522 1 0 ACIN1 22985 broad.mit.edu 37 14 23530555 23530555 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23530555G>T ENST00000262710.1 - 17 3877 c.3550C>A c.(3550-3552)Cgc>Agc p.R1184S ACIN1_ENST00000605057.1_Missense_Mutation_p.R1126S|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1171S|ACIN1_ENST00000557515.1_Missense_Mutation_p.R425S|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1144S|ACIN1_ENST00000338631.6_Missense_Mutation_p.R457S|ACIN1_ENST00000357481.2_Missense_Mutation_p.R426S|ACIN1_ENST00000397341.3_Missense_Mutation_p.R426S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1184 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCCTTGCGGCGGCGGTCACGG 0.562000 16 82 0.000308642 0.000335173 0.003163 1 0 IFIH1 64135 broad.mit.edu 37 2 163124634 163124634 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:163124634C>G ENST00000263642.2 - 14 3165 c.2770G>C c.(2770-2772)Gag>Cag p.E924Q NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 924 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TGCATTTTCTCAATTACATGG 0.388000 6 41 0 0 0.001168 0 0 CYB561 1534 broad.mit.edu 37 17 61511886 61511886 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:61511886G>A ENST00000392976.1 - 6 932 c.633C>T c.(631-633)ttC>ttT p.F211F CYB561_ENST00000392975.2_Silent_p.F211F|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000581573.1_Silent_p.F211F|CYB561_ENST00000582997.1_Silent_p.F218F|CYB561_ENST00000360793.3_Silent_p.F211F|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582034.1_Silent_p.F182F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000542042.1_Silent_p.F278F NM_001017916.1 NP_001017916.1 P49447 CY561_HUMAN cytochrome b561 211 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) CCGCCCCACCGAAGCAGGCCA 0.652000 5 36 0 0 0.014758 0 0 MADD 8567 broad.mit.edu 37 11 47315475 47315475 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:47315475G>C ENST00000342922.4 + 20 3700 c.3343G>C c.(3343-3345)Gag>Cag p.E1115Q MADD_ENST00000407859.3_Missense_Mutation_p.E1092Q|MADD_ENST00000406482.1_Missense_Mutation_p.E1072Q|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.E1072Q|MADD_ENST00000402192.2_Missense_Mutation_p.E1115Q|MADD_ENST00000395336.3_Missense_Mutation_p.E1153Q|MADD_ENST00000395344.3_Missense_Mutation_p.E1072Q|MADD_ENST00000349238.3_Missense_Mutation_p.E1135Q|MADD_ENST00000311027.5_Missense_Mutation_p.E1153Q NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1153 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TGGTGAGACAGAGGAGAAAAA 0.478000 16 31 0 0 0.008871 0 0 PRDM15 63977 broad.mit.edu 37 21 43280475 43280475 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:43280475C>G ENST00000422911.1 - 2 210 c.109G>C c.(109-111)Gag>Cag p.E37Q PRDM15_ENST00000398548.1_Missense_Mutation_p.E37Q|PRDM15_ENST00000447207.2_5'UTR|PRDM15_ENST00000538201.1_5'UTR|PRDM15_ENST00000269844.3_Missense_Mutation_p.E300Q P57071 PRD15_HUMAN PR domain containing 15 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TCAGCCATCTCTGACACCTGT 0.463000 25 17 0 0 0.008361 0 0 GHRH 2691 broad.mit.edu 37 20 35885254 35885254 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:35885254G>A ENST00000373614.2 - 2 150 c.39C>T c.(37-39)ctC>ctT p.L13L GHRH_ENST00000237527.3_Silent_p.L13L|GHRH_ENST00000373611.2_Silent_p.L13L P01286 SLIB_HUMAN growth hormone releasing hormone 13 activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food extracellular space|terminal button growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Myeloproliferative disorder(115;0.00878) AGCTGTTGCTGAGGGTGAGGA 0.612000 6 31 0 0 0.003080 0 0 OR4S2 219431 broad.mit.edu 37 11 55418793 55418793 + Silent SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:55418793A>T ENST00000312422.2 + 1 414 c.414A>T c.(412-414)acA>acT p.T138T NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACCGGGAGACATGCAATAAAA 0.438000 96 59 0 0 0.014410 0 0 MC3R 4159 broad.mit.edu 37 20 54823932 54823932 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:54823932G>A ENST00000243911.2 + 1 145 c.33G>A c.(31-33)caG>caA p.Q11Q NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 48 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCTCTGTTCAGCCAACACTGC 0.587000 81 168 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T rs67389650 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:7577127C>T ENST00000420246.2 - 8 943 c.811G>A c.(811-813)Gag>Aag p.E271K TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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) ACACGCACCTCAAAGCTGTTC 0.537000 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) 14 10 0 0 0.016723 0 0 ZNF716 441234 broad.mit.edu 37 7 57528802 57528802 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:57528802C>A ENST00000420713.1 + 4 747 c.635C>A c.(634-636)tCt>tAt p.S212Y NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AGGGAGAAGTCTTACAAATGT 0.358000 7 13 0.00198382 0.00211199 0.001984 1 0 IGSF11 152404 broad.mit.edu 37 3 118621435 118621435 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:118621435T>A ENST00000354673.2 - 9 1605 c.1225A>T c.(1225-1227)Aca>Tca p.T409S IGSF11_ENST00000425327.2_Missense_Mutation_p.T409S|IGSF11_ENST00000441144.2_Missense_Mutation_p.T385S|IGSF11_ENST00000491903.1_Missense_Mutation_p.T382S|IGSF11_ENST00000393775.2_Missense_Mutation_p.T410S|IGSF11_ENST00000489689.1_Missense_Mutation_p.T386S NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 410 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGTTCCAGTGTTGCGTGGCTG 0.527000 38 70 0 0 0.006230 0 0 CSMD3 114788 broad.mit.edu 37 8 113318320 113318320 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113318320G>T ENST00000297405.5 - 51 8231 c.7987C>A c.(7987-7989)Cga>Aga p.R2663R CSMD3_ENST00000352409.3_Silent_p.R2593R|CSMD3_ENST00000343508.3_Silent_p.R2623R|CSMD3_ENST00000455883.2_Silent_p.R2559R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2663 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATGACAATCGATATCCATCA 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 31 76 5.90632e-09 6.80394e-09 0.012213 1 0 BIRC8 112401 broad.mit.edu 37 19 53793115 53793115 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:53793115C>G ENST00000426466.1 - 1 1760 c.513G>C c.(511-513)caG>caC p.Q171H NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 171 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TGATTTCTCTCTGCAATGAAG 0.433000 23 48 0 0 0.012319 0 0 LPA 4018 broad.mit.edu 37 6 161071369 161071369 + Splice_Site SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:161071369C>T ENST00000447678.1 - 3 330 c.e3+1 LPA_ENST00000316300.5_Splice_Site NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAATGACATACGCATTTGGGT 0.403000 64 100 0 0 0.014410 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763666 92763666 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:92763666C>A ENST00000318238.4 - 5 2835 c.1619G>T c.(1618-1620)aGa>aTa p.R540I SAMD9L_ENST00000437805.1_Missense_Mutation_p.R540I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R540I NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 540 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AAATTTTCCTCTTGTCATTAT 0.368000 7 134 0.00198382 0.00211199 0.001984 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37508673 37508673 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:37508673G>A ENST00000374660.1 + 40 4321 c.4222G>A c.(4222-4224)Gac>Aac p.D1408N ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1289N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D1289N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAAGAAAGCTGACAACAAAAG 0.318000 4 22 0 0 0.009096 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716991 142716991 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:142716991C>T ENST00000381779.4 - 2 2159 c.1934G>A c.(1933-1935)cGc>cAc p.R645H SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 645 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTTGTTGCGTCGCAGGAC 0.458000 25 61 0 0 0.018920 0 0 NUP210P1 255330 broad.mit.edu 37 3 126382195 126382195 + RNA SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:126382195A>C ENST00000357061.3 + 0 162 NR_034158.1 GGCAGCCCCCAGCCTCAGTCC 0.602000 6 26 0 0 0.001984 0 0 TRPM6 140803 broad.mit.edu 37 9 77415379 77415379 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:77415379G>A ENST00000451710.3 - 17 2266 c.2029C>T c.(2029-2031)Ctg>Ttg p.L677L TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L677L|TRPM6_ENST00000449912.2_Silent_p.L672L|TRPM6_ENST00000360774.1_Silent_p.L677L|TRPM6_ENST00000361255.3_Silent_p.L672L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 677 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AACAAGTCCAGAGCCAGCTGG 0.458000 7 37 0 0 0.001984 0 0 UNC45A 55898 broad.mit.edu 37 15 91479540 91479540 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:91479540C>G ENST00000394275.2 + 7 1066 c.231C>G c.(229-231)gtC>gtG p.V77V UNC45A_ENST00000418476.2_Silent_p.V92V|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 92 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTGGGGATGTCAAAGCACTCT 0.577000 42 69 0 0 0.014410 0 0 ZNF423 23090 broad.mit.edu 37 16 49672682 49672682 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:49672682G>A ENST00000561648.1 - 4 434 c.381C>T c.(379-381)ctC>ctT p.L127L ZNF423_ENST00000563137.2_Silent_p.L67L|ZNF423_ENST00000535559.1_Silent_p.L10L|ZNF423_ENST00000262383.2_Silent_p.L127L|ZNF423_ENST00000567169.1_Silent_p.L10L|ZNF423_ENST00000562520.1_Silent_p.L67L|ZNF423_ENST00000562871.1_Silent_p.L67L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 127 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CCTCCTCGCCGAGGCCGAGGT 0.602000 28 15 0 0 0.005443 0 0 CFTR 1080 broad.mit.edu 37 7 117171025 117171025 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:117171025G>A ENST00000003084.6 + 4 478 c.346G>A c.(346-348)Gaa>Aaa p.E116K CFTR_ENST00000454343.1_Missense_Mutation_p.E116K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 116 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TAACAAGGAGGAACGCTCTAT 0.448000 Cystic Fibrosis 8 205 0 0 0.003080 0 0 PTPRO 5800 broad.mit.edu 37 12 15699627 15699627 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:15699627G>A ENST00000281171.4 + 13 2619 c.2289G>A c.(2287-2289)caG>caA p.Q763Q PTPRO_ENST00000348962.2_Silent_p.Q763Q|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 763 Fibronectin type-III 8. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GCTCCAGTCAGAAAACCAAAC 0.393000 6 46 0 0 0.003080 0 0 AKAP9 10142 broad.mit.edu 37 7 91694636 91694636 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:91694636G>A ENST00000359028.2 + 26 6330 c.6105G>A c.(6103-6105)gtG>gtA p.V2035V AKAP9_ENST00000358100.2_Silent_p.V2035V|AKAP9_ENST00000356239.3_Silent_p.V2023V|AKAP9_ENST00000491695.1_3'UTR Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2035 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAACAAGTGAAAGCTCTAG 0.328000 T BRAF papillary thyroid 6 22 0 0 0.001168 0 0 C2orf48 348738 broad.mit.edu 37 2 10282472 10282472 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:10282472A>G ENST00000381786.3 + 3 452 c.163A>G c.(163-165)Agt>Ggt p.S55G NM_182626.2 NP_872432.1 Q96LS8 CB048_HUMAN chromosome 2 open reading frame 48 55 endometrium(1)|lung(7) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) ggggtgcgccagtggaagcgg 0.592000 19 101 0 0 0.016522 0 0 SGCB 6443 broad.mit.edu 37 4 52890175 52890175 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:52890175C>A ENST00000381431.5 - 6 1127 c.905G>T c.(904-906)aGc>aTc p.S302I SGCB_ENST00000535450.1_Missense_Mutation_p.S232I NM_000232.4 NP_000223.1 Q16585 SGCB_HUMAN sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 302 Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1) 17 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) CATGTTCTGGCTGGTTACTTG 0.493000 18 34 1.56452e-12 1.85879e-12 0.007413 1 0 ZNF175 7728 broad.mit.edu 37 19 52090283 52090283 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:52090283C>T ENST00000262259.2 + 5 1057 c.699C>T c.(697-699)ttC>ttT p.F233F ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 233 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTCAGCTATTCAGCCATAGCT 0.423000 18 33 0 0 0.007413 0 0 BAI1 575 broad.mit.edu 37 8 143603424 143603424 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:143603424G>T ENST00000517894.1 + 21 4017 c.3123G>T c.(3121-3123)acG>acT p.T1041T BAI1_ENST00000323289.5_Silent_p.T1041T O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1041 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCGGTGACGGGCCACCTCC 0.667000 9 24 0.000673444 0.000727166 0.008291 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 42 0 0 0.014758 0 0 PRDM9 56979 broad.mit.edu 37 5 23524634 23524634 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:23524634G>A ENST00000296682.3 + 10 1324 c.1142G>A c.(1141-1143)aGa>aAa p.R381K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 381 Missing (in Ref. 4; AAF87242). meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATGGCAGGGAGAGGTAGGCAT 0.448000 HNSCC(3;0.000094) 15 50 0 0 0.016522 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567729 45567729 + RNA SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:45567729A>C ENST00000256692.5 - 0 956 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TATTTTCCTCACTTGATATGC 0.318000 6 37 0 0 0.001168 0 0 ZNF544 27300 broad.mit.edu 37 19 58773169 58773169 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:58773169G>C ENST00000269829.4 + 7 1671 c.1197G>C c.(1195-1197)caG>caC p.Q399H CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q371H|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q371H|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q257H|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q371H|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.Q399H|ZNF544_ENST00000599227.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCATACATCAGAGGACACACA 0.463000 9 53 0 0 0.006214 0 0 ZFP14 57677 broad.mit.edu 37 19 36831959 36831959 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:36831959C>T ENST00000270001.7 - 5 884 c.769G>A c.(769-771)Gaa>Aaa p.E257K NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TCCTTACATTCATAGGGTTTT 0.448000 57 26 0 0 0.014410 0 0 EYA4 2070 broad.mit.edu 37 6 133777745 133777745 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:133777745C>A ENST00000367895.5 + 6 793 c.329C>A c.(328-330)gCc>gAc p.A110D EYA4_ENST00000431403.2_Missense_Mutation_p.A110D|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.A110D|EYA4_ENST00000531901.1_Missense_Mutation_p.A110D|EYA4_ENST00000355286.6_Missense_Mutation_p.A87D|EYA4_ENST00000525849.1_Missense_Mutation_p.A87D|EYA4_ENST00000452339.2_Intron NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 110 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.A110V(2) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GAAACCACAGCCACGACTGGA 0.458000 12 135 1.52009e-12 1.81168e-12 0.003163 1 0 SLC52A2 79581 broad.mit.edu 37 8 145583767 145583767 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:145583767C>T ENST00000532887.1 + 3 1198 c.615C>T c.(613-615)gtC>gtT p.V205V SLC52A2_ENST00000527078.1_Silent_p.V205V|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.V205V|SLC52A2_ENST00000540505.1_Silent_p.V117V|SLC52A2_ENST00000402965.1_Silent_p.V205V|SLC52A2_ENST00000329994.2_Silent_p.V205V Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 205 integral to plasma membrane receptor activity|riboflavin transporter activity CCCTTCTGGTCGCTTCAGCTG 0.652000 15 84 0 0 0.004007 0 0 ISLR2 57611 broad.mit.edu 37 15 74425518 74425518 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:74425518C>T ENST00000361742.3 + 4 1192 c.423C>T c.(421-423)gaC>gaT p.D141D ISLR2_ENST00000453268.2_Silent_p.D141D|ISLR2_ENST00000435464.1_Silent_p.D141D|ISLR2_ENST00000565540.1_Silent_p.D141D|ISLR2_ENST00000565159.1_Silent_p.D141D|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.D141D|ISLR2_ENST00000445793.1_Silent_p.D141D NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 141 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 TGCCCCGGGACGCACTCGGTG 0.637000 10 104 0 0 0.006214 0 0 ZNF292 23036 broad.mit.edu 37 6 87966229 87966229 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:87966229G>A ENST00000369577.3 + 8 2925 c.2882G>A c.(2881-2883)gGc>gAc p.G961D ZNF292_ENST00000339907.4_Missense_Mutation_p.G956D NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 961 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACTGTGGAAGGCAGTGGTGAA 0.433000 20 47 0 0 0.010504 0 0 EIF4G3 8672 broad.mit.edu 37 1 21276584 21276584 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:21276584G>A ENST00000602326.1 - 11 1168 c.585C>T c.(583-585)ccC>ccT p.P195P EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000264211.8_Silent_p.P189P|EIF4G3_ENST00000400422.1_Silent_p.P189P|EIF4G3_ENST00000374935.3_Silent_p.P189P|EIF4G3_ENST00000374927.4_Silent_p.P189P|EIF4G3_ENST00000374937.3_Silent_p.P195P|EIF4G3_ENST00000356916.3_Silent_p.P200P NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 189 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGCTGTGCTCGGGGACCTGGC 0.527000 10 31 0 0 0.013537 0 0 OR4P4 81300 broad.mit.edu 37 11 55406751 55406751 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:55406751G>A ENST00000314612.2 + 1 918 c.918G>A c.(916-918)ctG>ctA p.L306L NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L306L(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 AAATACTCCTGAAAAGAAATC 0.398000 8 24 0 0 0.003080 0 0 NLRP7 199713 broad.mit.edu 37 19 55452960 55452960 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:55452960C>T ENST00000588756.1 - 4 606 c.120G>A c.(118-120)aaG>aaA p.K40K NLRP7_ENST00000328092.5_Silent_p.K40K|NLRP7_ENST00000592784.1_Silent_p.K40K|NLRP7_ENST00000448121.2_Silent_p.K40K|NLRP7_ENST00000340844.2_Silent_p.K40K|NLRP7_ENST00000446217.1_Silent_p.K68K|NLRP7_ENST00000590030.1_Silent_p.K40K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 40 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACCATGGGGTCTTCTGTAGCA 0.478000 25 56 0 0 0.018920 0 0 CTIF 9811 broad.mit.edu 37 18 46343675 46343675 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:46343675C>T ENST00000256413.3 + 10 1750 c.1455C>T c.(1453-1455)ttC>ttT p.F485F CTIF_ENST00000382998.4_Silent_p.F487F NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 485 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GCGAGGTCTTCGGCACCATGC 0.647000 12 48 0 0 0.013537 0 0 THRA 7067 broad.mit.edu 37 17 38243028 38243028 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38243028C>T ENST00000450525.2 + 7 1136 c.645C>T c.(643-645)ttC>ttT p.F215F THRA_ENST00000394121.4_Silent_p.F215F|THRA_ENST00000264637.4_Silent_p.F215F|THRA_ENST00000546243.1_Silent_p.F215F|THRA_ENST00000584985.1_Silent_p.F215F NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 215 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TGGAAGCCTTCAGCGAGTTTA 0.582000 OREG0024390 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 142 0 0 0.006214 0 0 DONSON 29980 broad.mit.edu 37 21 34951771 34951771 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:34951771G>A ENST00000303071.5 - 9 1514 c.1448C>T c.(1447-1449)tCa>tTa p.S483L DONSON_ENST00000453626.1_Intron|DONSON_ENST00000432378.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S469L NM_017613.3 NP_060083.1 Q9NYP3 DONS_HUMAN downstream neighbor of SON 483 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 CATGGTCAGTGAATGCAGAGA 0.448000 7 39 0 0 0.001984 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534866 96534866 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:96534866A>G ENST00000371321.3 + 2 302 c.220A>G c.(220-222)Atg>Gtg p.M74V CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 74 M -> T (in dbSNP:rs28399505). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCTGGAACGCATGGTGGTGCT 0.453000 52 28 0 0 0.014410 0 0 DNHD1 144132 broad.mit.edu 37 11 6523987 6523987 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:6523987C>G ENST00000254579.6 + 4 1315 c.751C>G c.(751-753)Cag>Gag p.Q251E DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251E|DNHD1_ENST00000527990.2_Missense_Mutation_p.Q251E NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 251 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACACAGGTCTCAGCTTGACTA 0.493000 13 15 0 0 0.013537 0 0 REG1P 5969 broad.mit.edu 37 2 79363278 79363278 + RNA SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:79363278C>G ENST00000444841.1 - 0 1060 TGTTCGCACTCAGAAACAGGT 0.433000 7 8 0 0 0.001984 0 0 CEP76 79959 broad.mit.edu 37 18 12686344 12686344 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:12686344C>G ENST00000262127.2 - 8 1264 c.1039G>C c.(1039-1041)Ggt>Cgt p.G347R RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.G272R NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 347 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGTTCATAACCAAGGACATTA 0.443000 9 20 0 0 0.006214 0 0 PROS1 5627 broad.mit.edu 37 3 93615521 93615521 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:93615521G>A ENST00000394236.3 - 9 1180 c.864C>T c.(862-864)tgC>tgT p.C288C PROS1_ENST00000407433.1_Silent_p.C157C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 288 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCAAGGGAAGGCACACTGAAA 0.358000 40 97 0 0 0.006230 0 0 SPEN 23013 broad.mit.edu 37 1 16258058 16258058 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:16258058G>A ENST00000375759.3 + 11 5527 c.5323G>A c.(5323-5325)Gaa>Aaa p.E1775K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1775 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCCAAAGGCCGAAAAGCCAGA 0.532000 21 90 0 0 0.008871 0 0 CSMD3 114788 broad.mit.edu 37 8 113299453 113299453 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113299453G>A ENST00000297405.5 - 58 9415 c.9171C>T c.(9169-9171)ggC>ggT p.G3057G CSMD3_ENST00000352409.3_Silent_p.G2987G|CSMD3_ENST00000343508.3_Silent_p.G3017G|CSMD3_ENST00000455883.2_Silent_p.G2888G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3057 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACCTGGATCGCCACATGTCC 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 135 0 0 0.002450 0 0 KIAA0195 9772 broad.mit.edu 37 17 73485368 73485368 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:73485368G>T ENST00000314256.7 + 8 1180 c.786G>T c.(784-786)ctG>ctT p.L262L KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Silent_p.L272L|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 262 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) ACATGGCCCTGTCCCGACCAG 0.582000 10 29 4.68919e-08 5.36919e-08 0.008291 1 0 LPHN3 23284 broad.mit.edu 37 4 62758580 62758580 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:62758580G>A ENST00000512091.1 + 9 2230 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K LPHN3_ENST00000507164.1_Missense_Mutation_p.E563K|LPHN3_ENST00000545650.1_Missense_Mutation_p.E495K|LPHN3_ENST00000514157.1_Missense_Mutation_p.E495K|LPHN3_ENST00000508693.1_Missense_Mutation_p.E563K|LPHN3_ENST00000506720.1_Missense_Mutation_p.E563K|LPHN3_ENST00000504896.1_Missense_Mutation_p.E495K|LPHN3_ENST00000506700.1_Missense_Mutation_p.E495K|LPHN3_ENST00000509896.1_Missense_Mutation_p.E563K|LPHN3_ENST00000508946.1_Missense_Mutation_p.E495K|LPHN3_ENST00000506746.1_Missense_Mutation_p.E563K|LPHN3_ENST00000511324.1_Missense_Mutation_p.E563K|LPHN3_ENST00000514996.1_Missense_Mutation_p.E495K|LPHN3_ENST00000507625.1_Missense_Mutation_p.E563K|LPHN3_ENST00000514591.1_Missense_Mutation_p.E495K Q9HAR2 LPHN3_HUMAN latrophilin 3 495 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCCAGCTCTCGAAGAGAGCTG 0.502000 5 19 0 0 0.001168 0 0 WDR45 11152 broad.mit.edu 37 X 48933333 48933333 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:48933333G>A ENST00000356463.3 - 9 1037 c.599C>T c.(598-600)tCt>tTt p.S200F WDR45_ENST00000553851.1_Missense_Mutation_p.S97F|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.S199F|WDR45_ENST00000376372.3_Missense_Mutation_p.S199F|WDR45_ENST00000322995.8_Missense_Mutation_p.S210F|WDR45_ENST00000376368.2_Missense_Mutation_p.S200F|WDR45_ENST00000376358.3_Missense_Mutation_p.S97F|WDR45_ENST00000485908.1_Missense_Mutation_p.S164F|WDR45_ENST00000473974.1_Missense_Mutation_p.S199F NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 199 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CTGGTTTAGAGACACACAGGC 0.562000 7 3 0 0 0.001984 0 0 FAM210A 125228 broad.mit.edu 37 18 13682015 13682015 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:13682015T>C ENST00000322247.3 - 3 449 c.62A>G c.(61-63)cAt>cGt p.H21R FAM210A_ENST00000402563.1_Missense_Mutation_p.H21R|FAM210A_ENST00000588475.1_5'UTR NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 21 integral to membrane ACCAGCATTATGTGGTTCCAA 0.418000 16 49 0 0 0.004990 0 0 UBE2C 11065 broad.mit.edu 37 20 44444383 44444383 + Splice_Site SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:44444383A>G ENST00000405520.1 + 3 1140 c.304_splice c.e3+1 p.G101_splice UBE2C_ENST00000352551.5_Splice_Site_p.G111_splice|UBE2C_ENST00000356455.4_Splice_Site_p.G140_splice|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000372568.4_Splice_Site_p.G101_splice|UBE2C_ENST00000496085.1_3'UTR NM_181802.1 NP_861518.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 140 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GCCTTCTAGGAGGTGACTTTA 0.542000 13 83 0 0 0.013537 0 0 AE000661.37 0 broad.mit.edu 37 14 22891846 22891846 + RNA SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:22891846A>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|TRDV2_ENST00000390469.2_RNA GGTAACTACTATATCAACTGG 0.478000 45 25 0 0 0.013114 0 0 BIRC6 57448 broad.mit.edu 37 2 32800426 32800426 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:32800426C>T ENST00000421745.2 + 66 13482 c.13348C>T c.(13348-13350)Cgt>Tgt p.R4450C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4450 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) CTATACCAACCGTTTAAGGTA 0.358000 43 26 0 0 0.008740 0 0 PRCP 5547 broad.mit.edu 37 11 82536054 82536054 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:82536054T>C ENST00000313010.3 - 9 1579 c.1385A>G c.(1384-1386)aAg>aGg p.K462R PRCP_ENST00000535099.1_Missense_Mutation_p.K357R|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.K483R NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 462 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CAAGGCATTCTTGGTGCGGAG 0.502000 17 39 0 0 0.006122 0 0 ASB4 51666 broad.mit.edu 37 7 95125216 95125216 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:95125216C>A ENST00000325885.5 + 2 405 c.334C>A c.(334-336)Cac>Aac p.H112N ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.H112N NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 112 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AACCCCTCTTCACGTGGCTTG 0.478000 24 201 3.28513e-13 3.95258e-13 0.003954 1 0 MLH1 4292 broad.mit.edu 37 3 37053345 37053345 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:37053345G>A ENST00000231790.2 + 7 796 c.580G>A c.(580-582)Gtt>Att p.V194I MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.V96I|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 194 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TAGTTTCTCAGTTAAAAAAGT 0.353000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 27 121 0 0 0.008361 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74540470 74540470 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:74540470A>G ENST00000354431.4 - 6 1063 c.872T>C c.(871-873)aTa>aCa p.I291T LRRIQ3_ENST00000395089.1_Missense_Mutation_p.I291T NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 291 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGGATAATATATATTCTGTGA 0.264000 3 9 0 0 0.009096 0 0 TM9SF4 9777 broad.mit.edu 37 20 30720911 30720911 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:30720911C>T ENST00000217315.5 + 2 400 c.60C>T c.(58-60)aaC>aaT p.N20N TM9SF4_ENST00000398022.2_Silent_p.N37N Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 37 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCACCAGAACGATCCCGTAG 0.517000 5 56 0 0 0.014758 0 0 THRB 7068 broad.mit.edu 37 3 24174828 24174828 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:24174828T>C ENST00000396671.2 - 9 1212 c.864A>G c.(862-864)aaA>aaG p.K288K THRB_ENST00000416420.1_Silent_p.K288K|THRB_ENST00000280696.5_Silent_p.K303K|THRB_ENST00000356447.4_Silent_p.K288K NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 288 Interaction with NR2F6.|Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TAGGCAACTTTTTGGCAAAAT 0.383000 4 28 0 0 0.009096 0 0 OR4K14 122740 broad.mit.edu 37 14 20482822 20482822 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:20482822G>A ENST00000305045.2 - 1 530 c.531C>T c.(529-531)agC>agT p.S177S NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CACAGAAGAAGCTGTCTACCT 0.488000 14 33 0 0 0.003163 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919947 12919947 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:12919947G>A ENST00000240189.2 + 3 774 c.687G>A c.(685-687)aaG>aaA p.K229K NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 229 p.K229K(1) 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) GTTACCTGAAGGAGATGAAGA 0.403000 15 97 0 0 0.004007 0 0 PABPC5 140886 broad.mit.edu 37 X 90691232 90691232 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:90691232T>C ENST00000312600.3 + 2 870 c.656T>C c.(655-657)tTc>tCc p.F219S PABPC5_ENST00000373105.1_Missense_Mutation_p.F55S NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 219 RRM 3. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AAGGAACTTTTCTGTGAATAT 0.438000 15 14 0 0 0.002450 0 0 TG 7038 broad.mit.edu 37 8 133883613 133883613 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:133883613C>A ENST00000220616.4 + 4 335 c.295C>A c.(295-297)Cag>Aag p.Q99K TG_ENST00000377869.1_Missense_Mutation_p.Q99K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 99 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGTCAGCTACAGAAACAGCA 0.502000 20 227 1.64113e-05 1.82402e-05 0.010504 1 0 C2orf78 388960 broad.mit.edu 37 2 74042383 74042383 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:74042383C>T ENST00000409561.1 + 3 1154 c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 345 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCTACTAATCTCTTGACACT 0.438000 26 32 0 0 0.018920 0 0 TTN 7273 broad.mit.edu 37 2 179452360 179452360 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:179452360C>G ENST00000589042.1 - 306 63900 c.63676G>C c.(63676-63678)Gac>Cac p.D21226H TTN_ENST00000460472.2_Missense_Mutation_p.D12161H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12286H|TTN_ENST00000342992.6_Missense_Mutation_p.D18658H|TTN_ENST00000342175.6_Missense_Mutation_p.D12353H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19585H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19585 Fibronectin type-III 54. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCATAGTGTCAACCAGATCA 0.453000 8 40 0 0 0.004482 0 0 PAX2 5076 broad.mit.edu 37 10 102546746 102546746 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:102546746G>C ENST00000370296.2 + 6 1213 c.663G>C c.(661-663)ttG>ttC p.L221F PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000361791.3_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.L221F|PAX2_ENST00000553492.1_Intron Q02962 PAX2_HUMAN paired box 2 221 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GTGGAGGTTTGCATCTGGTCT 0.512000 OREG0002760 type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay 16 17 0 0 0.004007 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443687 5443687 + Missense_Mutation SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:5443687T>G ENST00000300778.4 + 1 347 c.257T>G c.(256-258)cTt>cGt p.L86R HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCATGCAGCTTCTCTGGTTC 0.522000 14 62 0 0 0.002450 0 0 CCDC148 130940 broad.mit.edu 37 2 159196885 159196885 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:159196885G>C ENST00000283233.5 - 5 668 c.355C>G c.(355-357)Cag>Gag p.Q119E CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128E|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33E|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119E NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 119 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TATGTGCACTGTTGTTCTGAT 0.338000 3 42 0 0 0.004672 0 0 LHX6 26468 broad.mit.edu 37 9 124989209 124989209 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:124989209G>A ENST00000394319.4 - 3 361 c.257C>T c.(256-258)tCt>tTt p.S86F LHX6_ENST00000373754.2_Missense_Mutation_p.S57F|LHX6_ENST00000541397.2_Missense_Mutation_p.S75F|LHX6_ENST00000340587.3_Missense_Mutation_p.S86F|LHX6_ENST00000373755.2_Missense_Mutation_p.S57F NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 57 LIM zinc-binding 1.|Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 GGAGGCGGCAGAGGGCGGTGA 0.647000 5 1 0 0 0.014758 0 0 LPPR4 9890 broad.mit.edu 37 1 99771339 99771339 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99771339C>A ENST00000370185.3 + 7 1562 c.1065C>A c.(1063-1065)aaC>aaA p.N355K LPPR4_ENST00000457765.1_Missense_Mutation_p.N297K|LPPR4_ENST00000370184.1_Missense_Mutation_p.N197K NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 355 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAGATCCCAACCGACTTTTAT 0.478000 16 81 1.5739e-10 1.84677e-10 0.004007 1 0 C12orf45 121053 broad.mit.edu 37 12 105380132 105380132 + Translation_Start_Site SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:105380132T>C ENST00000552951.1 + 1 45 c.2T>C c.(1-3)aTg>aCg p.M1T C12orf45_ENST00000280749.5_Start_Codon_SNP_p.M1T NM_152318.2 NP_689531.2 Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 1 large_intestine(1)|lung(2) 3 GAGGGAAGCATGGAGGTCCAT 0.652000 5 7 0 0 0.014758 0 0 NDUFB4 4710 broad.mit.edu 37 3 120320118 120320118 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:120320118C>T ENST00000485064.1 + 2 373 c.341C>T c.(340-342)aCc>aTc p.T114I NDUFB4_ENST00000184266.2_Intron|NDUFB4_ENST00000492739.1_Intron NM_001168331.1 NP_001161803.1 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa 0 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|large_intestine(1)|lung(3) 5 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) AGTATTCAGACCAGATGTTTA 0.463000 18 131 0 0 0.006122 0 0 PTER 9317 broad.mit.edu 37 10 16547037 16547037 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:16547037A>G ENST00000378000.1 + 5 963 c.717A>G c.(715-717)aaA>aaG p.K239K PTER_ENST00000298942.3_Silent_p.K239K|PTER_ENST00000423462.2_Intron|PTER_ENST00000535784.2_Silent_p.K239K NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 239 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 TTGATAAGAAAGAGCTCTTGG 0.393000 25 71 0 0 0.004656 0 0 HMGCS1 3157 broad.mit.edu 37 5 43299040 43299040 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:43299040C>T ENST00000325110.6 - 3 234 c.28G>A c.(28-30)Gaa>Aaa p.E10K HMGCS1_ENST00000433297.2_Missense_Mutation_p.E10K NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 10 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 CAGCAAGCTTCTGCATTCAAA 0.373000 12 50 0 0 0.013537 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565065 58565065 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:58565065C>T ENST00000282326.1 + 6 1120 c.873C>T c.(871-873)ccC>ccT p.P291P NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 291 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTGGGCGGCCCTTCCAGTGTG 0.652000 6 65 0 0 0.001984 0 0 GAB4 128954 broad.mit.edu 37 22 17472947 17472947 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:17472947G>A ENST00000400588.1 - 2 401 c.294C>T c.(292-294)ctC>ctT p.L98L GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 98 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGCTCACAGAGGTTCAGGT 0.488000 86 166 0 0 0.014410 0 0 CHUK 1147 broad.mit.edu 37 10 101960516 101960516 + Nonsense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:101960516C>A ENST00000370397.7 - 15 1677 c.1591G>T c.(1591-1593)Gag>Tag p.E531* NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 531 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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 CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATCTGATCCTCCAGGTATCCA 0.398000 7 51 1.26484e-09 1.475e-09 0.003080 1 0 TBL1X 6907 broad.mit.edu 37 X 9679741 9679741 + Silent SNP C C T rs139999402 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:9679741C>T ENST00000217964.7 + 16 2170 c.1530C>T c.(1528-1530)agC>agT p.S510S TBL1X_ENST00000536365.1_Silent_p.S459S|TBL1X_ENST00000407597.2_Silent_p.S510S|TBL1X_ENST00000380961.1_Silent_p.S459S|TBL1X_ENST00000424279.1_Silent_p.S459S NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 510 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) CTGTCTATAGCGTAGCTTTCA 0.532000 25 8 0 0 0.016522 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072541 17072541 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:17072541G>A ENST00000359963.3 - 1 1159 c.900C>T c.(898-900)gaC>gaT p.D300D NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 300 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGGTCTCCTCGTCGACCTCCC 0.493000 65 157 0 0 0.014410 0 0 HECW1 23072 broad.mit.edu 37 7 43506115 43506115 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:43506115C>T ENST00000395891.1 + 15 3466 c.2861C>T c.(2860-2862)gCg>gTg p.A954V HECW1_ENST00000453890.1_Missense_Mutation_p.A920V NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 954 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAGTCCCCAGCGGTCAAGTTC 0.498000 29 55 0 0 0.007291 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563160 129563160 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:129563160G>A ENST00000422113.2 - 8 2360 c.2034C>T c.(2032-2034)ctC>ctT p.L678L TMEM132D_ENST00000389441.4_Silent_p.L216L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 678 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTGCAAGGAGAGTGACAGCC 0.572000 13 60 0 0 0.016723 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 41 0 0 0.014758 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703872 187703872 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:187703872T>C ENST00000295131.2 - 4 347 c.308A>G c.(307-309)gAa>gGa p.E103G NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 103 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TATCTCTCTTTCTCCAAGACC 0.403000 64 139 0 0 0.014410 0 0 RTP1 132112 broad.mit.edu 37 3 186917551 186917551 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:186917551G>T ENST00000312295.4 + 2 515 c.485G>T c.(484-486)cGc>cTc p.R162L RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 162 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACCAGCCTGCGCGAGCAGTGC 0.677000 25 12 6.07407e-21 7.57261e-21 0.007291 1 0 HCN4 10021 broad.mit.edu 37 15 73614946 73614946 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:73614946G>T ENST00000261917.3 - 8 4481 c.3488C>A c.(3487-3489)cCc>cAc p.P1163H NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1163 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) AGACAGAGGGGGTGGCAAAGA 0.677000 11 10 2.80697e-09 3.26332e-09 0.010729 1 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 42 107 0 0 0.008740 0 0 ZFAND4 93550 broad.mit.edu 37 10 46111945 46111945 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:46111945C>A ENST00000374366.3 - 11 2366 c.1901G>T c.(1900-1902)gGg>gTg p.G634V ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.G708V Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 708 zinc ion binding GTATCTCCTCCCTGCACTCTT 0.423000 35 22 1.26612e-14 1.53801e-14 0.015359 1 0 PCNT 5116 broad.mit.edu 37 21 47786839 47786839 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:47786839G>A ENST00000359568.5 + 15 3057 c.2950G>A c.(2950-2952)Gag>Aag p.E984K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 984 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GACCATCCGTGAGGAGCACAG 0.502000 40 111 0 0 0.006230 0 0 C10orf118 55088 broad.mit.edu 37 10 115895981 115895981 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:115895981C>T ENST00000369287.3 - 8 1617 c.1351G>A c.(1351-1353)Gag>Aag p.E451K C10orf118_ENST00000543782.1_Missense_Mutation_p.E49K NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 451 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) GCATCAAGCTCATTTGATTTA 0.353000 5 40 0 0 0.014758 0 0 PLCL1 5334 broad.mit.edu 37 2 198949080 198949080 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:198949080T>C ENST00000428675.1 + 2 1237 c.839T>C c.(838-840)aTc>aCc p.I280T PLCL1_ENST00000437704.2_Missense_Mutation_p.I182T NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 280 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GAAGCCAAGATCAGGTTAAAG 0.418000 34 37 0 0 0.010818 0 0 TRRAP 8295 broad.mit.edu 37 7 98586403 98586403 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:98586403C>G ENST00000359863.4 + 62 9626 c.9417C>G c.(9415-9417)aaC>aaG p.N3139K TRRAP_ENST00000355540.3_Missense_Mutation_p.N3110K|TRRAP_ENST00000446306.3_Missense_Mutation_p.N3110K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3139 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGAGGCAAACAAAGCCTTCT 0.483000 9 155 0 0 0.004482 0 0 MBD1 4152 broad.mit.edu 37 18 47801575 47801575 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:47801575A>G ENST00000591416.1 - 9 1264 c.833T>C c.(832-834)aTg>aCg p.M278T MBD1_ENST00000587605.1_Missense_Mutation_p.M278T|MBD1_ENST00000585672.1_Missense_Mutation_p.M229T|MBD1_ENST00000585595.1_Missense_Mutation_p.M303T|MBD1_ENST00000457839.2_Missense_Mutation_p.M303T|MBD1_ENST00000436910.1_Missense_Mutation_p.M278T|MBD1_ENST00000424334.2_Missense_Mutation_p.M329T|MBD1_ENST00000398493.1_Missense_Mutation_p.M278T|MBD1_ENST00000398495.2_Missense_Mutation_p.M303T|MBD1_ENST00000382948.5_Missense_Mutation_p.M278T|MBD1_ENST00000353909.3_Missense_Mutation_p.M229T|MBD1_ENST00000349085.2_Missense_Mutation_p.M278T|MBD1_ENST00000591535.1_Missense_Mutation_p.M278T|MBD1_ENST00000347968.3_Missense_Mutation_p.M278T|MBD1_ENST00000339998.6_Missense_Mutation_p.M278T|MBD1_ENST00000269468.5_Missense_Mutation_p.M278T|MBD1_ENST00000269471.5_Missense_Mutation_p.M278T|MBD1_ENST00000590208.1_Missense_Mutation_p.M278T|MBD1_ENST00000398488.1_Missense_Mutation_p.M278T|MBD1_ENST00000588937.1_Missense_Mutation_p.M278T Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 278 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CCTGGCAGCCATCTTGGAGTC 0.647000 14 47 0 0 0.004990 0 0 AP1S3 130340 broad.mit.edu 37 2 224642492 224642492 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:224642492C>A ENST00000443700.1 - 2 249 c.98G>T c.(97-99)cGg>cTg p.R33L AP1S3_ENST00000396653.2_Missense_Mutation_p.R33L|AP1S3_ENST00000396654.2_Missense_Mutation_p.R33L|AP1S3_ENST00000409375.1_Missense_Mutation_p.R33L|AP1S3_ENST00000446015.2_Missense_Mutation_p.R33L|AP1S3_ENST00000423110.1_Missense_Mutation_p.R33L Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 33 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) AACAATTTCCCGGGTGATCTT 0.398000 19 27 7.07596e-05 7.7959e-05 0.006122 1 0 NXPE2 120406 broad.mit.edu 37 11 114569363 114569363 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:114569363G>A ENST00000375475.5 + 3 827 c.729G>A c.(727-729)caG>caA p.Q243Q NXPE2_ENST00000389586.4_Silent_p.Q243Q neurexophilin and PC-esterase domain family, member 2 AACTGTGCCAGTACATGGATG 0.473000 16 40 0 0 0.004007 0 0 ALG10B 144245 broad.mit.edu 37 12 38714744 38714744 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:38714744T>C ENST00000308742.4 + 3 1467 c.1151T>C c.(1150-1152)aTa>aCa p.I384T ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 384 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GGTTGGAGTATAGCTGACTCA 0.308000 29 37 0 0 0.006320 0 0 PRR23C 389152 broad.mit.edu 37 3 138762903 138762903 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:138762903C>T ENST00000413199.1 - 1 831 c.560G>A c.(559-561)aGc>aAc p.S187N MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.S187N NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 187 breast(2)|lung(7)|skin(2) 11 CCGGTAGGGGCTGAACATACT 0.652000 7 16 0 0 0.001984 0 0 TRPA1 8989 broad.mit.edu 37 8 72975736 72975736 + Nonsense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:72975736G>C ENST00000262209.4 - 5 830 c.623C>G c.(622-624)tCa>tGa p.S208* NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 208 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTTGGAACCTGAAAATGCAGC 0.328000 22 20 0 0 0.004656 0 0 PHYKPL 85007 broad.mit.edu 37 5 177642318 177642318 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:177642318G>A ENST00000308158.5 - 9 1275 c.1041C>T c.(1039-1041)ctC>ctT p.L347L PHYKPL_ENST00000481811.1_5'UTR NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase TTTGCTGCCCGAGGAGCTGCA 0.592000 14 19 0 0 0.003163 0 0 IDNK 414328 broad.mit.edu 37 9 86258488 86258488 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:86258488C>G ENST00000277124.8 + 6 1064 c.219C>G c.(217-219)ctC>ctG p.L73L IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376419.4_Silent_p.L119L|IDNK_ENST00000454393.1_Silent_p.L162L|IDNK_ENST00000376417.4_3'UTR NM_001256915.1 NP_001243844.1 Q5T6J7 GNTK_HUMAN idnK, gluconokinase homolog (E. coli) 119 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity AGATGCAGCTCCTGGTGGTCC 0.478000 16 47 0 0 0.004007 0 0 CDK17 5128 broad.mit.edu 37 12 96691485 96691485 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:96691485C>G ENST00000261211.3 - 8 1333 c.730G>C c.(730-732)Gat>Cat p.D244H CDK17_ENST00000543119.2_Missense_Mutation_p.D244H|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.D191H NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 244 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 TGTTTTAAATCCTTTAATAGT 0.303000 17 44 0 0 0.004990 0 0 RHCE 6006 broad.mit.edu 37 1 25729191 25729191 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:25729191C>A ENST00000349320.3 - 5 722 c.334G>T c.(334-336)Ggt>Tgt p.G112C RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C|RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000294413.7_Missense_Mutation_p.G128C|RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C P18577 RHCE_HUMAN Rh blood group, CcEe antigens 128 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AAGACAGCACCCGCTGAGATC 0.552000 38 53 1.836e-18 2.28146e-18 0.017118 1 0 COL5A2 1290 broad.mit.edu 37 2 189931462 189931462 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:189931462C>T ENST00000374866.3 - 22 1722 c.1448G>A c.(1447-1449)gGg>gAg p.G483E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 483 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACTGGTTCCCCTTTTGGGCC 0.363000 49 105 0 0 0.014410 0 0 A2ML1 144568 broad.mit.edu 37 12 8995850 8995850 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:8995850C>T ENST00000299698.7 + 12 1549 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 301 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGCATCCACCGGCTAAACGG 0.542000 10 129 0 0 0.008291 0 0 THRA 7067 broad.mit.edu 37 17 38244755 38244755 + Splice_Site SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38244755T>C ENST00000450525.2 + 8 1473 c.e8+2 THRA_ENST00000394121.4_Splice_Site|THRA_ENST00000264637.4_Splice_Site|THRA_ENST00000546243.1_Splice_Site|THRA_ENST00000584985.1_Splice_Site NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TGTCAACAGGTACCTGCTGAT 0.557000 12 236 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 113331153 113331153 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113331153G>A ENST00000297405.5 - 47 7517 c.7273C>T c.(7273-7275)Cca>Tca p.P2425S CSMD3_ENST00000352409.3_Missense_Mutation_p.P2355S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2385S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2321S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2425 Sushi 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTAAATCCTGGAAGACACTGA 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 33 0 0 0.009096 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43817723 43817723 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:43817723T>A ENST00000553158.1 - 29 4288 c.4289A>T c.(4288-4290)gAt>gTt p.D1430V ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D548V|ADAMTS20_ENST00000389420.3_Intron P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 0 TSP type-1 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) CACTTTAAGATCCTCCTATAA 0.338000 3 3 0 0 0.004672 0 0 DAB2 1601 broad.mit.edu 37 5 39394407 39394407 + Nonsense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:39394407C>A ENST00000545653.1 - 2 546 c.16G>T c.(16-18)Gaa>Taa p.E6* DAB2_ENST00000509337.1_Nonsense_Mutation_p.E6*|DAB2_ENST00000339788.6_Nonsense_Mutation_p.E6*|DAB2_ENST00000320816.6_Nonsense_Mutation_p.E6* NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 6 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GCACTTGTTTCTACTTCGTTA 0.483000 20 55 5.26018e-13 6.30888e-13 0.012319 1 0 MSL3 10943 broad.mit.edu 37 X 11778578 11778578 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:11778578G>C ENST00000337339.2 + 3 269 c.242G>C c.(241-243)aGa>aCa p.R81T MSL3_ENST00000312196.4_Missense_Mutation_p.R81T|MSL3_ENST00000398527.2_Missense_Mutation_p.R69T|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000380693.3_5'UTR NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 81 Chromo. histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 GAAAATCGTAGATTACAGCGT 0.348000 21 15 0 0 0.012319 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939122 14939122 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:14939122G>A ENST00000313519.5 + 2 506 c.275G>A c.(274-276)gGa>gAa p.G92E SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.G152E NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 152 Chromo. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 AATCATAAAGGAATGATATTT 0.383000 12 35 0 0 0.010729 0 0 PRKDC 5591 broad.mit.edu 37 8 48752729 48752729 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:48752729T>C ENST00000314191.2 - 56 7355 c.7299A>G c.(7297-7299)gtA>gtG p.V2433V PRKDC_ENST00000338368.3_Silent_p.V2433V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2434 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTCCAAACATACTTTTTGTC 0.338000 Non-homologous end-joining 3 4 0 0 0.004672 0 0 KEAP1 9817 broad.mit.edu 37 19 10602822 10602822 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:10602822C>A ENST00000171111.5 - 3 1303 c.756G>T c.(754-756)tgG>tgT p.W252C KEAP1_ENST00000393623.2_Missense_Mutation_p.W252C|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 252 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGTACTTGACCCAGTTGATGC 0.622000 44 23 1.8453e-21 2.31579e-21 0.010771 1 0 HOXB2 3212 broad.mit.edu 37 17 46620955 46620955 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:46620955G>A ENST00000330070.4 - 2 1713 c.546C>T c.(544-546)ctC>ctT p.L182L HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 182 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GCCTTTCGGTGAGGTCCAGCA 0.612000 28 182 0 0 0.009535 0 0 MIR509-1 574514 broad.mit.edu 37 X 146342052 146342052 + RNA SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:146342052T>C ENST00000385265.1 - 0 91 NR_030236.1|NR_030586.1 GTATGTTGCATGTGTCATGCA 0.443000 4 57 0 0 0.014758 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249623 52249623 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:52249623T>C ENST00000371710.3 + 18 1786 c.1604T>C c.(1603-1605)aTa>aCa p.I535T OSBPL9_ENST00000486942.1_Missense_Mutation_p.I339T|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I407T|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I436T|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I500T|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I527T|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I339T|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I352T|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I517T|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I352T|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I504T|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I522T NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 517 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AACAAGAAGATACAATTCAAT 0.378000 6 27 0 0 0.001984 0 0 IL13 3596 broad.mit.edu 37 5 131995955 131995955 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:131995955G>A ENST00000304506.3 + 4 436 c.422G>A c.(421-423)cGc>cAc p.R141H IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA NM_002188.2 NP_002179.2 P35225 IL13_HUMAN interleukin 13 141 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1)|ovary(1)|skin(3) 6 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAACTTTTTCGCGAGGGACAG 0.413000 4 28 0 0 0.001168 0 0 HERC2 8924 broad.mit.edu 37 15 28517458 28517458 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:28517458G>C ENST00000261609.7 - 9 1094 c.986C>G c.(985-987)tCc>tGc p.S329C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 329 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S329F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCCTGGGCGGAACGCTCATT 0.542000 5 23 0 0 0.014758 0 0 ADCY1 107 broad.mit.edu 37 7 45697356 45697356 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:45697356G>C ENST00000297323.7 + 6 1201 c.1179G>C c.(1177-1179)ctG>ctC p.L393L ADCY1_ENST00000432715.1_Silent_p.L168L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 393 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGTGGATCTGAACATGCGTG 0.612000 5 17 0 0 0.014758 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978250 69978250 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:69978250C>T ENST00000305231.7 + 6 1432 c.1386C>T c.(1384-1386)ttC>ttT p.F462F UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 462 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGCAGTCTTCTGGATTGAAT 0.423000 26 83 0 0 0.006320 0 0 LIPT1 51601 broad.mit.edu 37 2 99778437 99778437 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:99778437C>T ENST00000393477.3 + 4 369 c.17C>T c.(16-18)tCa>tTa p.S6L LIPT1_ENST00000340066.1_Missense_Mutation_p.S6L|LIPT1_ENST00000393471.2_Missense_Mutation_p.S6L|LIPT1_ENST00000393473.2_Missense_Mutation_p.S6L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.S6L NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 6 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) ATCCCATTTTCAATGAAGAAT 0.323000 17 12 0 0 0.007413 0 0 OR14A16 284532 broad.mit.edu 37 1 247978907 247978921 + In_Frame_Del DEL AGGACATTCCCCATC AGGACATTCCCCATC - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:247978907_247978921delAGGACATTCCCCATC ENST00000357627.1 - 1 110_124 c.111_125delGATGGGGAATGTCCT c.(109-126)ctc>ct p.LMGNVL37del NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G39E(1)|p.N40S(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CATGATAATGAGGACATTCCCCATCAGGGCACACA 0.386 15 35 --- --- --- --- CEP68 23177 broad.mit.edu 37 2 65296785 65296786 + Frame_Shift_Ins INS - - A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:65296785_65296786insA ENST00000377990.2 + 2 410_411 c.207_208insA c.(205-210)ggctgafs p.*70fs CEP68_ENST00000260569.4_Frame_Shift_Ins_p.*70fs|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Frame_Shift_Ins_p.*70fs NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 70 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCTGGATTGGGACTGACCCTGG 0.649 61 56 --- --- --- --- PRKG2 5593 broad.mit.edu 37 4 82074817 82074817 + Frame_Shift_Del DEL A A - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:82074817delA ENST00000395578.1 - 7 1087 c.971delT c.(970-972)tcfs p.F324fs PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Frame_Shift_Del_p.F324fs|PRKG2_ENST00000418486.2_Frame_Shift_Del_p.F324fs Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 324 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TGCCAAAATGAAAAAGGTACT 0.343 8 138 --- --- --- --- SAMD9 54809 broad.mit.edu 37 7 92733829 92733829 + Frame_Shift_Del DEL G G - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:92733829delG ENST00000379958.2 - 3 1851 c.1582delC c.(1582-1584)ttfs p.L528fs NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 528 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCATGTGTAAGAAATGAAATC 0.408 14 289 --- --- --- --- GRHL2 79977 broad.mit.edu 37 8 102656404 102656405 + Frame_Shift_Ins INS - - T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:102656404_102656405insT ENST00000251808.3 + 13 1901_1902 c.1563_1564insT c.(1561-1566)gattggfs p.W522fs GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.W506fs NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 522 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGGAAGAGGAGTTTGGTCCAGT 0.495 11 53 --- --- --- --- RORB 6096 broad.mit.edu 37 9 77286749 77286750 + Frame_Shift_Ins INS - - A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:77286749_77286750insA ENST00000376896.2 + 9 1768_1769 c.1156_1157insA c.(1156-1158)aaafs p.K386fs RORB_ENST00000396204.2_Frame_Shift_Ins_p.K397fs NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 397 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GAAGCTTCAGGAAAAAATTTAT 0.446 7 26 --- --- --- --- MTSS1L 92154 broad.mit.edu 37 16 70697685 70697694 + Frame_Shift_Del DEL GGCTGGGGGT GGCTGGGGGT - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:70697685_70697694delGGCTGGGGGT ENST00000338779.6 - 15 2404_2413 c.2130_2139delACCCCCAGCC c.(2128-2139)ccfs p.PPPA710fs FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 710 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CGCTGGTGGCGGCTGGGGGTGGGGTGGGCG 0.733 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:11085863_11085864insC 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) catcaccaccaccaccatcacc 0.579 7 2 --- --- --- --- GRIPAP1 56850 broad.mit.edu 37 X 48849862 48849863 + Frame_Shift_Del DEL TG TG - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:48849862_48849863delTG ENST00000376441.1 - 6 468_469 c.434_435delCA c.(433-435)afs p.T145fs GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376444.3_Frame_Shift_Del_p.T100fs|GRIPAP1_ENST00000376425.3_Frame_Shift_Del_p.T145fs NM_020137.3 NP_064522.3 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 145 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 TCTGCAAGGCTGTGTTTTCAGC 0.614 11 6 --- --- --- ---