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 SAGE1 55511 broad.mit.edu 37 X 134987465 134987465 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:134987465G>A ENST00000535938.1 + 5 535 c.368G>A c.(367-369)cGa>cAa p.R123Q SAGE1_ENST00000370709.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.R123Q NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 123 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGCCAATCTCGAACTGACAAA 0.468000 8 55 0 0 0.003080 0 0 GABRB2 2561 broad.mit.edu 37 5 160758016 160758016 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:160758016G>A ENST00000274547.2 - 9 1168 c.951C>T c.(949-951)ttC>ttT p.F317F GABRB2_ENST00000517547.1_Silent_p.F157F|GABRB2_ENST00000353437.6_Silent_p.F317F|GABRB2_ENST00000517901.1_Silent_p.F254F|GABRB2_ENST00000393959.1_Silent_p.F317F|GABRB2_ENST00000520240.1_Silent_p.F317F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 317 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAAGGGCCATGAAAACGAAGA 0.507000 9 89 0 0 0.008291 0 0 PCNX 22990 broad.mit.edu 37 14 71575607 71575607 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:71575607C>T ENST00000304743.2 + 34 7034 c.6588C>T c.(6586-6588)tcC>tcT p.S2196S PCNX_ENST00000439984.3_Silent_p.S2085S|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.S2124S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2196 Ser-rich. integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCAGCAGCTCCAGCCAAAGCA 0.592000 13 38 0 0 0.016723 0 0 ORM1 5004 broad.mit.edu 37 9 117086343 117086343 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:117086343G>A ENST00000259396.8 + 3 381 c.303G>A c.(301-303)cgG>cgA p.R101R ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 101 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) ATGTCCAGCGGGAAAATGGGA 0.537000 10 54 0 0 0.006214 0 0 WDR13 64743 broad.mit.edu 37 X 48463396 48463396 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:48463396C>T ENST00000218056.5 + 9 1939 c.1434C>T c.(1432-1434)atC>atT p.I478I NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 478 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GCATGGTCATCGTCTGGAGGC 0.587000 4 21 0 0 0.014758 0 0 GNA14 9630 broad.mit.edu 37 9 80144101 80144101 + Missense_Mutation SNP C C T rs148544176 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:80144101C>T ENST00000341700.6 - 2 706 c.193G>A c.(193-195)Gac>Aac p.D65N NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 65 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 CTGTCTTCGTCGCTGTAACCA 0.448000 25 206 0 0 0.007291 0 0 CHL1 10752 broad.mit.edu 37 3 431047 431047 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:431047G>A ENST00000256509.2 + 20 3002 c.2360G>A c.(2359-2361)cGg>cAg p.R787Q CHL1_ENST00000397491.2_Missense_Mutation_p.R771Q NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 771 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CACACATTGCGGGTGATGACG 0.527000 21 45 0 0 0.027356 0 0 CUX1 1523 broad.mit.edu 37 7 101847737 101847737 + Missense_Mutation SNP A A T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:101847737A>T ENST00000360264.3 + 19 3027 c.3007A>T c.(3007-3009)Acg>Tcg p.T1003S CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T890S|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T936S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T992S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T834S|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T970S NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 992 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAGCAAGCTGACGCAGAAAGG 0.647000 22 79 0 0 0.014323 0 0 ZNF229 7772 broad.mit.edu 37 19 44932791 44932791 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:44932791C>T ENST00000291187.4 - 6 2469 c.2147G>A c.(2146-2148)aGa>aAa p.R716K ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R722K|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 722 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGAGCCATATCTGAAACCCTT 0.498000 12 41 0 0 0.010729 0 0 OR5H6 79295 broad.mit.edu 37 3 97983179 97983179 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:97983179G>A ENST00000383696.2 + 1 92 c.51G>A c.(49-51)atG>atA p.M17I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTGAGGAGATGGAAGAGGAAA 0.388000 11 74 0 0 0.008291 0 0 HDAC4 9759 broad.mit.edu 37 2 239976470 239976470 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:239976470G>A ENST00000345617.3 - 25 3839 c.3048C>T c.(3046-3048)tcC>tcT p.S1016S HDAC4_ENST00000543185.1_Silent_p.S600S NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 1016 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CTTTCTCCATGGAACGGACAG 0.512000 13 70 0 0 0.004990 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767066 77767066 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77767066C>T ENST00000521891.2 + 10 8357 c.7909C>T c.(7909-7911)Cat>Tat p.H2637Y ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATGCTTGATCATATTGCCCG 0.512000 HNSCC(33;0.089) 7 30 0 0 0.001984 0 0 NEB 4703 broad.mit.edu 37 2 152512945 152512945 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:152512945C>T ENST00000397345.3 - 49 6419 c.6217G>A c.(6217-6219)Ggg>Agg p.G2073R NEB_ENST00000409198.1_Missense_Mutation_p.G2073R|NEB_ENST00000604864.1_Missense_Mutation_p.G2073R|NEB_ENST00000603639.1_Missense_Mutation_p.G2073R|NEB_ENST00000427231.2_Missense_Mutation_p.G2073R|NEB_ENST00000172853.10_Missense_Mutation_p.G2073R NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2073 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACCATTTTCCCCTTCCCTTTT 0.368000 11 73 0 0 0.013537 0 0 SORCS3 22986 broad.mit.edu 37 10 106937899 106937899 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:106937899G>A ENST00000369701.3 + 14 2204 c.1977G>A c.(1975-1977)ctG>ctA p.L659L SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 659 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACGGGGCTCTGGTGGAGGCAG 0.483000 12 31 0 0 0.016723 0 0 USH2A 7399 broad.mit.edu 37 1 216465538 216465538 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:216465538C>T ENST00000366943.2 - 10 2205 c.1819G>A c.(1819-1821)Gat>Aat p.D607N USH2A_ENST00000307340.3_Missense_Mutation_p.D607N|USH2A_ENST00000366942.3_Missense_Mutation_p.D607N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 607 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCTCACAATCATCACAAACT 0.403000 HNSCC(13;0.011) 9 42 0 0 0.006214 0 0 DDX20 11218 broad.mit.edu 37 1 112309444 112309444 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:112309444C>T ENST00000475700.1 + 3 3580 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* DDX20_ENST00000369702.4_Nonsense_Mutation_p.Q800* Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 800 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGAATGCTCAGAGACATCC 0.393000 12 43 0 0 0.016723 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412386 110412386 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:110412386C>T ENST00000378402.5 + 13 1198 c.1094C>T c.(1093-1095)aCg>aTg p.T365M NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 365 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATGAAAAAACGCCTGGGTAC 0.433000 HNSCC(38;0.096) 25 148 0 0 0.018920 0 0 WFDC9 259240 broad.mit.edu 37 20 44238797 44238797 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:44238797G>A ENST00000326000.1 - 3 241 c.24C>T c.(22-24)ctC>ctT p.L8L NM_147198.3 NP_671731.1 Q8NEX5 WFDC9_HUMAN WAP four-disulfide core domain 9 8 extracellular region breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) TGAACATGACGAGTAGAAGAA 0.493000 5 35 0 0 0.014758 0 0 ACSL6 23305 broad.mit.edu 37 5 131303644 131303644 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:131303644C>T ENST00000379264.2 - 16 1693 c.1585G>A c.(1585-1587)Gga>Aga p.G529R ACSL6_ENST00000379244.1_Missense_Mutation_p.G504R|ACSL6_ENST00000379246.1_Missense_Mutation_p.G515R|ACSL6_ENST00000296869.4_Missense_Mutation_p.G529R|ACSL6_ENST00000431707.1_Missense_Mutation_p.G484R|ACSL6_ENST00000379272.2_Missense_Mutation_p.G519R|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000543479.1_Missense_Mutation_p.G504R|ACSL6_ENST00000544770.1_Missense_Mutation_p.G413R|ACSL6_ENST00000379240.1_Missense_Mutation_p.G504R|ACSL6_ENST00000379249.3_Missense_Mutation_p.G504R|ACSL6_ENST00000379255.1_Missense_Mutation_p.G429R|ACSL6_ENST00000357096.1_Missense_Mutation_p.G429R NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 504 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) TCTCCCTCTCCTTTGCAGGCC 0.488000 7 110 0 0 0.003080 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635361 6635361 + Missense_Mutation SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:6635361A>G ENST00000333172.6 + 3 1362 c.1169A>G c.(1168-1170)tAc>tGc p.Y390C TAS1R1_ENST00000328191.4_Missense_Mutation_p.Y390C|TAS1R1_ENST00000351136.3_Intron NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 390 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TACAACGCATACCGGGCTGTG 0.587000 12 42 0 0 0.013537 0 0 FAM179A 165186 broad.mit.edu 37 2 29256361 29256361 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:29256361C>T ENST00000379558.4 + 16 2508 c.2157C>T c.(2155-2157)ccC>ccT p.P719P FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.P664P NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 719 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATGAACTTCCCTCTGCCAAAG 0.517000 4 13 0 0 0.009096 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20131078 20131078 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:20131078C>T ENST00000334554.7 + 10 2066 c.1925C>T c.(1924-1926)tCg>tTg p.S642L ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S550L|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S642L NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 642 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CCGCGGACGTCGTCCTCCTCC 0.721000 4 5 0 0 0.009096 0 0 TET1 80312 broad.mit.edu 37 10 70405330 70405330 + Silent SNP A A T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:70405330A>T ENST00000373644.4 + 4 3053 c.2844A>T c.(2842-2844)ggA>ggT p.G948G NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 948 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACTTACAGGGAGAGCCACCAA 0.428000 9 30 0 0 0.006214 0 0 FAM83B 222584 broad.mit.edu 37 6 54805208 54805208 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:54805208G>A ENST00000306858.7 + 5 1555 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 480 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGCAACAACGAATGCCAACC 0.413000 16 44 0 0 0.010504 0 0 ZNF831 128611 broad.mit.edu 37 20 57829475 57829475 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:57829475G>A ENST00000371030.2 + 5 4711 c.4711G>A c.(4711-4713)Gct>Act p.A1571T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1571 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) TGAAATACCAGCTTCAGGACC 0.483000 10 56 0 0 0.008291 0 0 GRIA1 2890 broad.mit.edu 37 5 153190641 153190641 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:153190641C>T ENST00000285900.5 + 16 2920 c.2577C>T c.(2575-2577)ctC>ctT p.L859L GRIA1_ENST00000340592.5_Silent_p.L859L|GRIA1_ENST00000521843.2_Silent_p.L790L|GRIA1_ENST00000518142.1_Silent_p.L779L|GRIA1_ENST00000518783.1_Silent_p.L869L|GRIA1_ENST00000448073.4_Silent_p.L869L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 859 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCGACCCTCCCCCGCAACA 0.587000 8 53 0 0 0.006214 0 0 IMPG1 3617 broad.mit.edu 37 6 76728558 76728558 + Silent SNP G G A rs142510377 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:76728558G>A ENST00000369950.3 - 7 873 c.684C>T c.(682-684)ttC>ttT p.F228F IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 228 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCAACACAGCGAATTCTGTTT 0.413000 13 24 0 0 0.016723 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948397 82948397 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:82948397C>T ENST00000274341.4 - 3 1197 c.347G>A c.(346-348)gGa>gAa p.G116E HAPLN1_ENST00000514416.1_Missense_Mutation_p.G116E NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 116 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATCACTGCCTCCCTTCAGAAA 0.428000 7 80 0 0 0.003080 0 0 NBEA 26960 broad.mit.edu 37 13 36223797 36223797 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:36223797C>T ENST00000540320.1 + 51 8247 c.7713C>T c.(7711-7713)ttC>ttT p.F2571F NBEA_ENST00000537702.1_Silent_p.F364F|NBEA_ENST00000310336.4_Silent_p.F2571F|NBEA_ENST00000400445.3_Silent_p.F2571F|NBEA_ENST00000379922.3_Silent_p.F149F|NBEA_ENST00000379939.2_Silent_p.F2568F Q8NFP9 NBEA_HUMAN neurobeachin 2571 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AACAGTGTTTCCTTCCACAGA 0.418000 32 146 0 0 0.017118 0 0 RGL4 266747 broad.mit.edu 37 22 24035163 24035163 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:24035163G>A ENST00000290691.5 + 3 1851 c.681G>A c.(679-681)ctG>ctA p.L227L RGL4_ENST00000401461.1_Silent_p.L91L|GUSBP11_ENST00000417194.1_RNA NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 227 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CAGAGCAGCTGACCCTCATGG 0.612000 9 18 0 0 0.006214 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410639 32410639 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr21:32410639C>T ENST00000382822.2 - 1 156 c.124G>A c.(124-126)Gga>Aga p.G42R NM_001099219.1 NP_001092689.1 Q3LI54 KR198_HUMAN keratin associated protein 19-8 42 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 CCATAGCCTCCGTAGCCACAG 0.532000 12 76 0 0 0.020292 0 0 CD163L1 283316 broad.mit.edu 37 12 7510023 7510023 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7510023G>A ENST00000313599.3 - 19 4396 c.4339C>T c.(4339-4341)Cct>Tct p.P1447S CD163L1_ENST00000396630.1_Missense_Mutation_p.P1415S|CD163L1_ENST00000416109.2_Missense_Mutation_p.P1457S Q9NR16 C163B_HUMAN CD163 molecule-like 1 1447 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCAGAGGCAGGAAGAACTCCC 0.413000 7 53 0 0 0.006214 0 0 CD1A 909 broad.mit.edu 37 1 158224917 158224917 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:158224917C>T ENST00000289429.5 + 2 635 c.102C>T c.(100-102)tcC>tcT p.S34S NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 34 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GGATCGCATCCTTTTACAACC 0.478000 14 98 0 0 0.020292 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 38 109 0 0 0.021022 0 0 FREM2 341640 broad.mit.edu 37 13 39343824 39343824 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:39343824G>A ENST00000280481.7 + 4 5736 c.5520G>A c.(5518-5520)cgG>cgA p.R1840R NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1840 Calx-beta 1. R -> W (in dbSNP:rs9603422). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCGAGTGCGGATCCTGAGTG 0.542000 12 40 0 0 0.013537 0 0 CHIT1 1118 broad.mit.edu 37 1 203186132 203186132 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:203186132G>A ENST00000367229.1 - 11 1320 c.1286C>T c.(1285-1287)cCc>cTc p.P429L CHIT1_ENST00000255427.3_Missense_Mutation_p.P410L|CHIT1_ENST00000535569.1_Missense_Mutation_p.P420L|CHIT1_ENST00000484834.1_Intron NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 429 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCGAGGATTGGGATAGAGCCC 0.592000 OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 104 0 0 0.028581 0 0 IGSF1 3547 broad.mit.edu 37 X 130410995 130410995 + Silent SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:130410995A>C ENST00000370904.1 - 20 3409 c.2499T>G c.(2497-2499)ggT>ggG p.G833G IGSF1_ENST00000370910.1_Silent_p.G833G|IGSF1_ENST00000361420.3_Silent_p.G842G|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.G847G Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 842 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCCTCCATCACCAATGCCCA 0.522000 37 237 0 0 0.023175 0 0 MTMR4 9110 broad.mit.edu 37 17 56573397 56573397 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:56573397G>A ENST00000323456.5 - 16 2230 c.2106C>T c.(2104-2106)taC>taT p.Y702Y MTMR4_ENST00000579925.1_Silent_p.Y645Y NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 702 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TAAGCAGTTTGTAACTTGGAG 0.483000 26 202 0 0 0.007291 0 0 CBL 867 broad.mit.edu 37 11 119158644 119158644 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:119158644C>T ENST00000264033.4 + 12 2400 c.2024C>T c.(2023-2025)tCt>tTt p.S675F NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 675 Interaction with CD2AP.|Pro-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.S675C(2) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GCCATTTATTCTCTGGCTGCC 0.403000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 11 35 0 0 0.016723 0 0 C7 730 broad.mit.edu 37 5 40947853 40947853 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:40947853C>T ENST00000313164.9 + 8 1247 c.888C>T c.(886-888)atC>atT p.I296I NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 296 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAAGATTAATCGACCAGTACG 0.408000 15 52 0 0 0.024245 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919184 154919184 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:154919184G>A ENST00000368463.3 - 10 1037 c.966C>T c.(964-966)gcC>gcT p.A322A PBXIP1_ENST00000542459.1_Silent_p.A167A|PBXIP1_ENST00000368465.1_Silent_p.A293A|PBXIP1_ENST00000539880.1_Silent_p.A149A NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 322 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCGCTGGAAGGCTTCGCCCT 0.667000 5 23 0 0 0.014758 0 0 GSDMC 56169 broad.mit.edu 37 8 130765061 130765061 + Missense_Mutation SNP C C T rs142034966 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:130765061C>T ENST00000276708.4 - 7 1608 c.727G>A c.(727-729)Gaa>Aaa p.E243K NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 243 mitochondrion p.E243K(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 tcggaaatttcgtactcttgg 0.488000 7 71 0 0 0.001984 0 0 GSPT2 23708 broad.mit.edu 37 X 51488447 51488447 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:51488447C>T ENST00000340438.4 + 1 1967 c.1725C>T c.(1723-1725)ttC>ttT p.F575F NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 575 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GACCCCGCTTCGTGAAACAAG 0.413000 10 44 0 0 0.008291 0 0 USP17L2 377630 broad.mit.edu 37 8 11995072 11995072 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:11995072C>T ENST00000333796.3 - 1 1514 c.1198G>A c.(1198-1200)Gac>Aac p.D400N FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 400 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCTCGCCTGTCTGTGTCTTCA 0.567000 3 13 0 0 0.004672 0 0 ANKRD17 26057 broad.mit.edu 37 4 73942768 73942768 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:73942768G>A ENST00000358602.4 - 33 7757 c.7641C>T c.(7639-7641)atC>atT p.I2547I ANKRD17_ENST00000509867.2_Silent_p.I2434I|ANKRD17_ENST00000330838.6_Silent_p.I2296I NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2547 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CACCATCAGGGATAGGTGCTA 0.428000 17 34 0 0 0.028581 0 0 JARID2 3720 broad.mit.edu 37 6 15513580 15513580 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:15513580C>T ENST00000341776.2 + 16 3621 c.3377C>T c.(3376-3378)cCt>cTt p.P1126L JARID2_ENST00000397311.3_Missense_Mutation_p.P954L NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 1126 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGAAAAAGCCTCGAAAGTGG 0.657000 12 33 0 0 0.016723 0 0 ZNF175 7728 broad.mit.edu 37 19 52090840 52090840 + Missense_Mutation SNP A A T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:52090840A>T ENST00000262259.2 + 5 1614 c.1256A>T c.(1255-1257)tAt>tTt p.Y419F ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 419 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) GAGAGACAGTATGCATGCAGT 0.438000 7 33 0 0 0.001984 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567119 173567119 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:173567119G>A ENST00000367714.3 - 4 703 c.281C>T c.(280-282)tCt>tTt p.S94F SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 94 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGAAAAGTAAGAATAAAGTGA 0.308000 6 51 0 0 0.021553 0 0 MCCC2 64087 broad.mit.edu 37 5 70892176 70892176 + Missense_Mutation SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:70892176A>G ENST00000340941.6 + 3 395 c.266A>G c.(265-267)aAt>aGt p.N89S MCCC2_ENST00000509358.2_Missense_Mutation_p.N89S|MCCC2_ENST00000323375.8_Missense_Mutation_p.N89S NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 89 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AGAATTGACAATCTCATAGAC 0.388000 21 81 0 0 0.012319 0 0 SALL4 57167 broad.mit.edu 37 20 50407813 50407813 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:50407813G>A ENST00000217086.4 - 2 1320 c.1209C>T c.(1207-1209)tcC>tcT p.S403S SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 403 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCCAGTGTGGGAGCGGAGGT 0.542000 9 38 0 0 0.006214 0 0 ESX1 80712 broad.mit.edu 37 X 103495484 103495484 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:103495484C>T ENST00000372588.4 - 4 729 c.646G>A c.(646-648)Gac>Aac p.D216N NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 216 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 AAGAACATGTCCAAAGGGTGG 0.507000 16 114 0 0 0.028581 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833376 23833376 + Splice_Site SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:23833376T>A ENST00000264867.2 - 3 354 c.e3-2 PPARGC1A_ENST00000509702.1_Splice_Site NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATCTATCTTCTGCAGAAAGAG 0.448000 14 103 0 0 0.016723 0 0 TTC16 158248 broad.mit.edu 37 9 130492962 130492962 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:130492962G>A ENST00000373289.3 + 14 1980 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 634 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TATCTGCCAGGAATACAGGAG 0.587000 4 28 0 0 0.009096 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798661 160798661 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:160798661G>A ENST00000283243.7 - 29 4360 c.4154C>T c.(4153-4155)aCt>aTt p.T1385I PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1385 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CGCCTCTGCAGTGTGAATATC 0.318000 7 35 0 0 0.006214 0 0 CD163L1 283316 broad.mit.edu 37 12 7550931 7550931 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7550931C>T ENST00000313599.3 - 7 1715 c.1658G>A c.(1657-1659)tGg>tAg p.W553* CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W553*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W563* Q9NR16 C163B_HUMAN CD163 molecule-like 1 553 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TTCACAGTCCCAGATATTTGA 0.403000 9 64 0 0 0.006214 0 0 TBC1D19 55296 broad.mit.edu 37 4 26638852 26638852 + Missense_Mutation SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:26638852T>A ENST00000264866.4 + 5 592 c.314T>A c.(313-315)aTt>aAt p.I105N TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Missense_Mutation_p.I40N NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 105 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) GAAAAAAGAATTTTGAAGAGT 0.264000 11 32 0 0 0.020292 0 0 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:7578555C>T ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) CAGGGGAGTACTGTAGGAAGA 0.552000 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) 6 11 0 0 0.021553 0 0 LOXL4 84171 broad.mit.edu 37 10 100017472 100017472 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:100017472C>T ENST00000260702.3 - 8 1345 c.1195G>A c.(1195-1197)Ggt>Agt p.G399S NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 399 SRCR 3. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) TGTTGGCAACCATTCTGGGAC 0.587000 22 56 0 0 0.014323 0 0 MYLK 4638 broad.mit.edu 37 3 123452564 123452564 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:123452564C>T ENST00000360772.3 - 11 1657 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K MYLK_ENST00000475616.1_Missense_Mutation_p.E427K|MYLK_ENST00000346322.5_Missense_Mutation_p.E427K|MYLK_ENST00000360304.3_Missense_Mutation_p.E427K|MYLK_ENST00000359169.1_Missense_Mutation_p.E427K Q15746 MYLK_HUMAN myosin light chain kinase 427 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTTTGATTTTCCTTGACCTCC 0.507000 21 92 0 0 0.021523 0 0 SEC24C 9632 broad.mit.edu 37 10 75519806 75519806 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75519806G>A ENST00000339365.2 + 6 674 c.512G>A c.(511-513)gGa>gAa p.G171E SEC24C_ENST00000411652.2_Missense_Mutation_p.G29E|SEC24C_ENST00000345254.4_Missense_Mutation_p.G171E|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.G29E NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 171 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TCAGCCTCAGGAAGTTTCCCT 0.547000 28 79 0 0 0.008361 0 0 FAM83D 81610 broad.mit.edu 37 20 37581057 37581057 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:37581057G>A ENST00000217429.4 + 4 1783 c.1742G>A c.(1741-1743)aGg>aAg p.R581K NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 551 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATGCTGTCAAGGAGAACACTC 0.448000 19 71 0 0 0.008871 0 0 CYP2C18 1562 broad.mit.edu 37 10 96484139 96484139 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:96484139G>A ENST00000285979.6 + 7 1197 c.998G>A c.(997-999)aGa>aAa p.R333K CYP2C18_ENST00000339022.5_Missense_Mutation_p.R274K|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GTAGTTGGCAGAAACCGGAGC 0.473000 18 68 0 0 0.014323 0 0 KIF15 56992 broad.mit.edu 37 3 44852400 44852400 + Silent SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:44852400T>C ENST00000326047.4 + 17 2183 c.2034T>C c.(2032-2034)ccT>ccC p.P678P KIF15_ENST00000425755.1_Silent_p.P313P NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 678 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATTAAGCCCTGAAATGGGAA 0.373000 3 41 0 0 0.004672 0 0 SYNJ2 8871 broad.mit.edu 37 6 158509711 158509711 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:158509711G>A ENST00000355585.4 + 24 3438 c.3363G>A c.(3361-3363)aaG>aaA p.K1121K SYNJ2_ENST00000367112.1_Silent_p.K206K|SYNJ2_ENST00000367121.3_Silent_p.K1121K|SYNJ2_ENST00000367122.2_Silent_p.K1076K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1121 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGGTGAAAAAGTCGGCTTCAG 0.527000 29 67 0 0 0.007291 0 0 PLCB1 23236 broad.mit.edu 37 20 8770195 8770195 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:8770195C>T ENST00000378641.3 + 30 3784 c.3309C>T c.(3307-3309)atC>atT p.I1103I PLCB1_ENST00000338037.6_Silent_p.I1103I|PLCB1_ENST00000378637.2_Silent_p.I1103I NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1103 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGTCATATATCCAGGAAGTGG 0.423000 16 79 0 0 0.007413 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585680 167585680 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:167585680C>T ENST00000366832.2 + 2 179 c.48C>T c.(46-48)caC>caT p.H16H NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 16 endometrium(1)|kidney(2)|lung(3) 6 AGGGCACCCACCCAGAGGACC 0.667000 5 9 0 0 0.014758 0 0 TTC18 118491 broad.mit.edu 37 10 75090940 75090940 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75090940C>T ENST00000310715.3 - 9 1102 c.982G>A c.(982-984)Gaa>Aaa p.E328K TTC18_ENST00000401621.2_Missense_Mutation_p.E328K|TTC18_ENST00000394865.1_Missense_Mutation_p.E328K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 328 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTTACCTTTTCAGTTTTGCCA 0.403000 5 18 0 0 0.021553 0 0 MRPS15 64960 broad.mit.edu 37 1 36921790 36921790 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:36921790G>A ENST00000373116.5 - 7 795 c.634C>T c.(634-636)Cgg>Tgg p.R212W MRPS15_ENST00000488606.1_5'UTR NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 212 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTCGTACCCGAATGCACAGA 0.547000 6 39 0 0 0.003080 0 0 LPPR2 64748 broad.mit.edu 37 19 11474874 11474874 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:11474874G>A ENST00000251473.5 + 9 1361 c.985G>A c.(985-987)Ggc>Agc p.G329S DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R309Q NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 ACACCGGCACGGCTCACCCCA 0.647000 13 95 0 0 0.024245 0 0 INTS3 65123 broad.mit.edu 37 1 153741373 153741373 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:153741373C>T ENST00000456435.1 + 22 2817 c.1631C>T c.(1630-1632)cCa>cTa p.P544L INTS3_ENST00000435409.2_Missense_Mutation_p.P750L|INTS3_ENST00000512605.1_Missense_Mutation_p.P544L|INTS3_ENST00000318967.2_Missense_Mutation_p.P750L|INTS3_ENST00000476843.1_3'UTR Q68E01 INT3_HUMAN integrator complex subunit 3 751 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATTTAGTTTCCAGATGAAACC 0.483000 4 28 0 0 0.009096 0 0 SALL4 57167 broad.mit.edu 37 20 50407356 50407356 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:50407356C>T ENST00000217086.4 - 2 1777 c.1666G>A c.(1666-1668)Gag>Aag p.E556K SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 556 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAATGTTCTCCACCAACTGC 0.542000 21 102 0 0 0.014323 0 0 IRS2 8660 broad.mit.edu 37 13 110436510 110436510 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:110436510C>T ENST00000375856.3 - 1 2405 c.1891G>A c.(1891-1893)Gac>Aac p.D631N NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 631 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TCTCCGTAGTCCTCTGGGTAG 0.701000 3 18 0 0 0.009096 0 0 TLL1 7092 broad.mit.edu 37 4 166986935 166986935 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:166986935C>T ENST00000061240.2 + 16 2755 c.2108C>T c.(2107-2109)tCc>tTc p.S703F TLL1_ENST00000507499.1_Missense_Mutation_p.S726F NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 703 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGATCACATCCCAGTTCAAC 0.398000 6 67 0 0 0.021553 0 0 DNAH5 1767 broad.mit.edu 37 5 13700980 13700980 + Splice_Site SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:13700980C>T ENST00000265104.4 - 78 13596 c.13491_splice c.e78-1 p.E4498_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4498 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E4498K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGAGTTATTTCCTATTCAGGG 0.453000 Kartagener syndrome 8 51 0 0 0.003080 0 0 LONP1 9361 broad.mit.edu 37 19 5705925 5705925 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:5705925G>A ENST00000360614.3 - 8 1382 c.1225C>T c.(1225-1227)Ctg>Ttg p.L409L LONP1_ENST00000540670.2_Silent_p.L213L|LONP1_ENST00000585374.1_Silent_p.L295L|LONP1_ENST00000590729.1_Silent_p.L279L|LONP1_ENST00000593119.1_Silent_p.L345L NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 409 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCTTCTCCAGGCCCAGCTCC 0.577000 14 77 0 0 0.004990 0 0 DCHS2 54798 broad.mit.edu 37 4 155241981 155241981 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:155241981G>A ENST00000357232.3 - 14 3204 c.3205C>T c.(3205-3207)Ccc>Tcc p.P1069S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1069 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTTCCTATGGGAACATTCTCC 0.438000 21 74 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179441825 179441825 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179441825C>T ENST00000589042.1 - 324 69461 c.69237G>A c.(69235-69237)aaG>aaA p.K23079K TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K14014K|TTN_ENST00000342175.6_Silent_p.K14206K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.K14139K|TTN_ENST00000342992.6_Silent_p.K20511K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K21438K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21438 Ig-like 118. L -> F (in a metastatic melanoma sample; somatic mutation). 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) TGGTTTCTCTCTTTTCAAGTA 0.423000 14 61 0 0 0.016723 0 0 PSG8 440533 broad.mit.edu 37 19 43268068 43268068 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:43268068G>A ENST00000404209.4 - 2 526 c.430_splice c.e2+1 p.L144_splice PSG8_ENST00000401467.2_Splice_Site_p.P144_splice|PSG8_ENST00000306511.4_Splice_Site_p.L144_splice|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 144 Ig-like V-type. extracellular region p.L144L(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AATCACTCACGATATAAGGTG 0.498000 29 169 0 0 0.017118 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471102 75471102 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:75471102G>A ENST00000459803.1 - 0 2039 NR_024241.1 CAGCCAGGTGGTGACCTGGGA 0.557000 3 10 0 0 0.001984 0 0 DNER 92737 broad.mit.edu 37 2 230231745 230231745 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:230231745G>A ENST00000341772.4 - 12 2080 c.1946C>T c.(1945-1947)gCc>gTc p.A649V NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 649 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAGGATGAAGGCCACGCAGAG 0.557000 8 19 0 0 0.003080 0 0 RNF157 114804 broad.mit.edu 37 17 74163764 74163764 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:74163764C>T ENST00000269391.6 - 4 543 c.411G>A c.(409-411)caG>caA p.Q137Q RNF157_ENST00000319945.6_Silent_p.Q137Q NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 137 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CTTCCGTGGCCTGGTAATAGA 0.498000 7 73 0 0 0.001984 0 0 OR5M11 219487 broad.mit.edu 37 11 56309817 56309817 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:56309817C>T ENST00000528616.2 - 1 940 c.917G>A c.(916-918)tGa>tAa p.*306* NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GACAATATTTCATCTCAGGAC 0.383000 3 26 0 0 0.009096 0 0 ATP13A3 79572 broad.mit.edu 37 3 194162180 194162180 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:194162180G>A ENST00000439040.1 - 16 2361 c.1570C>T c.(1570-1572)Cca>Tca p.P524S ATP13A3_ENST00000256031.4_Missense_Mutation_p.P524S Q9H7F0 AT133_HUMAN ATPase type 13A3 524 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTTTCTTCTGGTGAAAGAAAT 0.333000 6 28 0 0 0.001984 0 0 SLC28A3 64078 broad.mit.edu 37 9 86920249 86920249 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:86920249C>T ENST00000376238.4 - 4 303 c.254G>A c.(253-255)aGg>aAg p.R85K SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_Missense_Mutation_p.R16K NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 85 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GTCATACCTCCTTTCCAAACA 0.383000 5 33 0 0 0.001984 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605793 58605793 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:58605793C>T ENST00000287275.1 - 3 517 c.127G>A c.(127-129)Gag>Aag p.E43K GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E43K NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 43 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) ACCAGCACCTCCATGTTGAAA 0.443000 8 38 0 0 0.004482 0 0 SCP2 6342 broad.mit.edu 37 1 53420478 53420478 + Splice_Site SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:53420478T>A ENST00000371514.3 + 5 564 c.e5+2 SCP2_ENST00000407246.2_Splice_Site|SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000528311.1_Splice_Site NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GGAATAAAAGTGAGTGTTATT 0.338000 10 60 0 0 0.010729 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183905 11183905 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:11183905G>A ENST00000390675.2 - 1 101 c.30C>T c.(28-30)tcC>tcT p.S10S PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CTACCACACTGGAAAAAATGA 0.383000 7 37 0 0 0.004482 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659649 63659649 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:63659649C>T ENST00000523211.1 + 4 564 c.432C>T c.(430-432)taC>taT p.Y144Y NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.Y144Y NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 144 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) ACTTCCAGTACCTGGAGGTCA 0.478000 5 33 0 0 0.021553 0 0 ADRBK2 157 broad.mit.edu 37 22 26100117 26100117 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:26100117C>T ENST00000324198.5 + 15 1461 c.1269C>T c.(1267-1269)tcC>tcT p.S423S NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 423 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) AACTGAAGTCCCTTTTGGAGG 0.498000 9 36 0 0 0.010729 0 0 CNNM2 54805 broad.mit.edu 37 10 104809545 104809545 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:104809545C>T ENST00000369878.3 + 2 1827 c.1703C>T c.(1702-1704)aCc>aTc p.T568I CNNM2_ENST00000433628.2_Missense_Mutation_p.T568I|CNNM2_ENST00000457502.2_Missense_Mutation_p.T326I NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 568 CBS 2. T -> I (in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations). ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GGAATCGTCACCTTAGAAGAT 0.388000 6 61 0 0 0.021553 0 0 PDE4C 5143 broad.mit.edu 37 19 18333100 18333100 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:18333100C>T ENST00000355502.3 - 6 1147 c.276G>A c.(274-276)agG>agA p.R92R PDE4C_ENST00000262805.11_Silent_p.R60R|PDE4C_ENST00000594465.2_Silent_p.R92R|PDE4C_ENST00000594617.2_Silent_p.R92R|PDE4C_ENST00000447275.2_5'UTR Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 92 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CCAGGGCCCTCCTCCCACACG 0.632000 11 60 0 0 0.020292 0 0 MSLNL 401827 broad.mit.edu 37 16 830384 830384 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:830384G>A ENST00000293892.3 - 3 616 c.617C>T c.(616-618)cCt>cTt p.P206L MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGTGCATGCAGGCACGCACAT 0.597000 10 51 0 0 0.006214 0 0 SH2D4B 387694 broad.mit.edu 37 10 82369223 82369223 + Missense_Mutation SNP A A T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:82369223A>T ENST00000339284.2 + 6 1331 c.901A>T c.(901-903)Atc>Ttc p.I301F SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Missense_Mutation_p.I300F|SH2D4B_ENST00000313455.4_Missense_Mutation_p.I253F NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 300 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) CAGAGATGTCATCGTCCGCTG 0.592000 9 39 0 0 0.006214 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561799 145561799 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:145561799G>A ENST00000355594.4 + 10 1574 c.1487G>A c.(1486-1488)aGg>aAg p.R496K NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 496 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTCAACTAAGGGAGGAGCTT 0.602000 36 124 0 0 0.025465 0 0 ZNF701 55762 broad.mit.edu 37 19 53086410 53086410 + Missense_Mutation SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:53086410T>A ENST00000540331.1 + 5 1521 c.1296T>A c.(1294-1296)gaT>gaA p.D432E ZNF701_ENST00000301093.2_Missense_Mutation_p.D432E|ZNF701_ENST00000391785.3_Missense_Mutation_p.D366E|CTD-3099C6.7_ENST00000599222.1_RNA NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TCAGACGTGATTCACACCTGG 0.398000 7 46 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767767 77767767 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77767767C>T ENST00000521891.2 + 10 9058 c.8610C>T c.(8608-8610)agC>agT p.S2870S ZFHX4_ENST00000050961.6_Silent_p.S2825S|ZFHX4_ENST00000518282.1_Silent_p.S2844S|ZFHX4_ENST00000455469.2_Silent_p.S2825S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2825 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCTCACAAGCCCATCCATCC 0.498000 HNSCC(33;0.089) 5 23 0 0 0.014758 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959872 102959872 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:102959872C>T ENST00000311734.2 + 8 1306 c.967C>T c.(967-969)Cca>Tca p.P323S IL1RL1_ENST00000409584.1_Missense_Mutation_p.P309S|IL1RL1_ENST00000404917.2_Missense_Mutation_p.P206S|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P323S Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 323 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TAGGAAAAATCCAAGTAAGGA 0.448000 15 94 0 0 0.006122 0 0 DNAH3 55567 broad.mit.edu 37 16 20999122 20999122 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:20999122C>T ENST00000261383.3 - 46 6774 c.6775G>A c.(6775-6777)Gtg>Atg p.V2259M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2259 AAA 3 (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) AAGTTCTCCACTGCATCTCTA 0.502000 5 55 0 0 0.021553 0 0 TENM1 10178 broad.mit.edu 37 X 123699396 123699396 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:123699396C>T ENST00000422452.2 - 12 2155 c.2092G>A c.(2092-2094)Gag>Aag p.E698K TENM1_ENST00000371130.3_Missense_Mutation_p.E698K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTACCACACTCCATGGTACAC 0.408000 7 29 0 0 0.006214 0 0 KMT2C 58508 broad.mit.edu 37 7 151945102 151945102 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:151945102G>A ENST00000355193.2 - 14 2635 c.2417C>T c.(2416-2418)tCc>tTc p.S806F KMT2C_ENST00000262189.6_Missense_Mutation_p.S806F lysine (K)-specific methyltransferase 2C TCCAGCAGAGGAACTAAGAGC 0.438000 18 578 0 0 0.014323 0 0 LGSN 51557 broad.mit.edu 37 6 63990239 63990239 + Missense_Mutation SNP T T G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:63990239T>G ENST00000370657.4 - 4 1250 c.1217A>C c.(1216-1218)gAa>gCa p.E406A LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 406 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TAGTTTATTTTCTATCCGGGT 0.448000 22 70 0 0 0.012319 0 0 SULF1 23213 broad.mit.edu 37 8 70539458 70539458 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:70539458C>T ENST00000260128.4 + 16 2581 c.1864C>T c.(1864-1866)Ccc>Tcc p.P622S SULF1_ENST00000458141.2_Missense_Mutation_p.P622S|SULF1_ENST00000402687.4_Missense_Mutation_p.P622S|SULF1_ENST00000419716.3_Missense_Mutation_p.P622S|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 622 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTTTATTCTTCCCAATGACTC 0.378000 4 17 0 0 0.014758 0 0 RASAL1 8437 broad.mit.edu 37 12 113553569 113553569 + Silent SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:113553569A>G ENST00000546530.1 - 11 1159 c.874T>C c.(874-876)Ttg>Ctg p.L292L RASAL1_ENST00000548055.1_Silent_p.L292L|RASAL1_ENST00000261729.5_Silent_p.L292L|RASAL1_ENST00000446861.3_Silent_p.L292L|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 292 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCTTCCAGCAAAGCCAAGGGG 0.627000 12 35 0 0 0.028581 0 0 SCAMP3 10067 broad.mit.edu 37 1 155228653 155228653 + Nonsense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:155228653G>A ENST00000355379.3 - 4 681 c.403C>T c.(403-405)Cag>Tag p.Q135* SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Nonsense_Mutation_p.Q161* NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 161 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACAGTCTTCTGAAATTCTTGG 0.493000 24 152 0 0 0.018920 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458690 120458690 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:120458690G>A ENST00000256646.2 - 34 6874 c.6655C>T c.(6655-6657)Ccc>Tcc p.P2219S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2219 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCACTGAGGGAAGCACAGTG 0.572000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 113 421 0 0 0.014410 0 0 NPY4R 5540 broad.mit.edu 37 10 47087209 47087209 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:47087209C>T ENST00000374312.1 + 3 845 c.426C>T c.(424-426)ctC>ctT p.L142L NPY4R_ENST00000395716.1_Silent_p.L142L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 p.L142L(2) GGCATCAGCTCATCATCAACC 0.592000 17 128 0 0 0.007413 0 0 SORBS2 8470 broad.mit.edu 37 4 186545539 186545539 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:186545539G>A ENST00000431808.1 - 14 1595 c.1032C>T c.(1030-1032)gtC>gtT p.V344V SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.V444V|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.V344V|SORBS2_ENST00000418609.1_Silent_p.V248V|SORBS2_ENST00000393528.3_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 344 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGTCCCGAGGGACATCCAAGT 0.507000 16 52 0 0 0.024245 0 0 FAM129A 116496 broad.mit.edu 37 1 184777223 184777223 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:184777223C>T ENST00000367511.3 - 10 1513 c.1320G>A c.(1318-1320)caG>caA p.Q440Q FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 440 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCATGTAGTTCTGTGTCCTCT 0.537000 29 126 0 0 0.010818 0 0 LAMB4 22798 broad.mit.edu 37 7 107708494 107708494 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:107708494C>T ENST00000388781.3 - 19 2496 c.2413G>A c.(2413-2415)Gga>Aga p.G805R LAMB4_ENST00000388780.3_Missense_Mutation_p.G805R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G805R NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 805 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCATAGCTTCCAGTTGAGCAC 0.552000 45 184 0 0 0.014410 0 0 ITPR1 3708 broad.mit.edu 37 3 4722316 4722316 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:4722316C>T ENST00000302640.8 + 24 3352 c.3002C>T c.(3001-3003)tCc>tTc p.S1001F ITPR1_ENST00000357086.4_Missense_Mutation_p.S1007F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S1016F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S992F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1007F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S1001F NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1016 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GAAAGCAATTCCCAGACTTCA 0.413000 9 37 0 0 0.006214 0 0 GPR179 440435 broad.mit.edu 37 17 36482779 36482779 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:36482779C>T ENST00000342292.4 - 11 6693 c.6673G>A c.(6673-6675)Gaa>Aaa p.E2225K GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2225 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCTGTGATTTCCCATTGGCAC 0.552000 11 65 0 0 0.008291 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794192 140794192 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140794192G>A ENST00000398610.2 + 1 1450 c.1450G>A c.(1450-1452)Gac>Aac p.D484N PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCCGGACAGCAAAGA 0.517000 8 111 0 0 0.004482 0 0 OSBPL7 114881 broad.mit.edu 37 17 45891179 45891179 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:45891179G>A ENST00000007414.3 - 15 1564 c.1373C>T c.(1372-1374)cCc>cTc p.P458L OSBPL7_ENST00000392507.3_Missense_Mutation_p.P458L NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 458 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TGGCCCCATGGGTCTCCCTGG 0.682000 7 18 0 0 0.004482 0 0 ACSL6 23305 broad.mit.edu 37 5 131329887 131329887 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:131329887C>T ENST00000379264.2 - 2 215 c.107G>A c.(106-108)cGa>cAa p.R36Q ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379246.1_Missense_Mutation_p.R22Q|ACSL6_ENST00000296869.4_Missense_Mutation_p.R36Q|ACSL6_ENST00000431707.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379272.2_Missense_Mutation_p.R11Q|ACSL6_ENST00000543479.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379249.3_Missense_Mutation_p.R11Q|ACSL6_ENST00000379255.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000357096.1_Missense_Mutation_p.R11Q NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 11 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) CTCAGGCAGTCGCAGTATCCT 0.547000 5 22 0 0 0.014758 0 0 DNAH8 1769 broad.mit.edu 37 6 38891880 38891880 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:38891880G>A ENST00000359357.3 + 71 10507 c.10253G>A c.(10252-10254)cGg>cAg p.R3418Q RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3382Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3635Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGAGAGCACGGAAAATTCCT 0.373000 14 60 0 0 0.016723 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997096 82997096 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:82997096C>T ENST00000307792.3 - 17 2601 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E652K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 712 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCAAGAATTCCTTGTACCAT 0.458000 19 82 0 0 0.007413 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483115 54483115 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:54483115C>T ENST00000317802.7 - 1 294 c.174G>A c.(172-174)ggG>ggA p.G58G ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 58 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GGGGCGCGACCCCCTCCTCTG 0.602000 10 120 0 0 0.016723 0 0 COX7A2 1347 broad.mit.edu 37 6 75953460 75953460 + Silent SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:75953460T>C ENST00000370081.2 - 2 397 c.87A>G c.(85-87)gtA>gtG p.V29V COX7A2_ENST00000472311.2_5'UTR|COX7A2_ENST00000370089.2_Silent_p.V29V|COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000460985.1_5'UTR|COX7A2_ENST00000509698.1_5'UTR P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 TCTTGGCTGTTACTGACCAGC 0.542000 16 69 0 0 0.006122 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254885 30254885 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:30254885G>A ENST00000361644.2 + 5 1581 c.844G>A c.(844-846)Gaa>Aaa p.E282K MAGEB3_ENST00000378986.1_Missense_Mutation_p.E282K NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 282 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 AGCCCATGCTGAAACCAGCAA 0.493000 5 51 0 0 0.021553 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935697 151935697 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:151935697G>A ENST00000393902.3 - 3 1037 c.470C>T c.(469-471)tCc>tTc p.S157F MAGEA3_ENST00000370278.3_Missense_Mutation_p.S157F P43357 MAGA3_HUMAN melanoma antigen family A, 3 157 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTGCAAGGAACTGGAAGC 0.547000 10 84 0 0 0.006214 0 0 ZNF641 121274 broad.mit.edu 37 12 48739160 48739160 + Missense_Mutation SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:48739160A>C ENST00000544117.2 - 4 1124 c.416T>G c.(415-417)aTg>aGg p.M139R ZNF641_ENST00000547026.1_Missense_Mutation_p.M125R|ZNF641_ENST00000301042.3_Missense_Mutation_p.M139R|ZNF641_ENST00000448928.3_Intron Q96N77 ZN641_HUMAN zinc finger protein 641 139 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 GTTTTCCTGCATGACATATTC 0.527000 17 51 0 0 0.006122 0 0 CRISP1 167 broad.mit.edu 37 6 49815925 49815925 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:49815925G>A ENST00000335847.4 - 4 384 c.283C>T c.(283-285)Cca>Tca p.P95S CRISP1_ENST00000329411.5_Missense_Mutation_p.P95S|CRISP1_ENST00000355791.2_Missense_Mutation_p.P95S|CRISP1_ENST00000505118.1_Missense_Mutation_p.P95S|CRISP1_ENST00000536021.1_Missense_Mutation_p.P95S|CRISP1_ENST00000507853.1_Missense_Mutation_p.P95S NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 95 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) CACTTACTTGGAAGTCTCCTC 0.373000 15 73 0 0 0.024245 0 0 CCDC181 57821 broad.mit.edu 37 1 169388387 169388387 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:169388387C>T ENST00000545005.1 - 5 1586 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q CCDC181_ENST00000367806.3_Missense_Mutation_p.R360Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R360Q|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 p.R360Q(1) TTCTATTTTTCGTCGCTCTTC 0.303000 5 18 0 0 0.014758 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731426 140731426 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140731426G>A ENST00000523390.1 + 1 1599 c.1599G>A c.(1597-1599)caG>caA p.Q533Q PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGGACCAGGGCTCCCCCG 0.701000 15 55 0 0 0.020292 0 0 ARL9 132946 broad.mit.edu 37 4 57384993 57384993 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:57384993C>T ENST00000360096.2 + 3 480 c.166C>T c.(166-168)Cct>Tct p.P56S NM_206919.1 NP_996802.1 Q6T311 ARL9_HUMAN ADP-ribosylation factor-like 9 120 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) CCCAGTACTTCCTCTGGTTGT 0.378000 8 26 0 0 0.003080 0 0 NOTCH4 4855 broad.mit.edu 37 6 32183118 32183118 + Missense_Mutation SNP G G T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:32183118G>T ENST00000375023.3 - 12 2044 c.1906C>A c.(1906-1908)Ccc>Acc p.P636T NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 636 EGF-like 16. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ATCTGCTTGGGCTGGCACAGG 0.572000 41 231 6.21074e-16 6.5789e-16 0.011902 1 0 DSG2 1829 broad.mit.edu 37 18 29102104 29102104 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:29102104G>A ENST00000261590.8 + 6 791 c.582G>A c.(580-582)tcG>tcA p.S194S DSG2_ENST00000585206.1_Silent_p.S194S NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 194 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S194S(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCCTGAATTCGAAAATTTCCT 0.368000 5 25 0 0 0.021553 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081925 193081925 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:193081925C>T ENST00000342358.4 - 2 325 c.208G>A c.(208-210)Gaa>Aaa p.E70K NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 70 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GTGTCTGCTTCTTGCAAGGGG 0.527000 36 97 0 0 0.019004 0 0 MUC16 94025 broad.mit.edu 37 19 9018453 9018453 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:9018453C>T ENST00000397910.4 - 24 37924 c.37721G>A c.(37720-37722)aGg>aAg p.R12574K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12576 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCAGGACCCTCTCAGTGGT 0.547000 21 94 0 0 0.016522 0 0 KPNA2 3838 broad.mit.edu 37 17 66040459 66040459 + Missense_Mutation SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:66040459A>C ENST00000537025.2 + 9 1807 c.1187A>C c.(1186-1188)gAa>gCa p.E396A KPNA2_ENST00000330459.3_Missense_Mutation_p.E396A P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 396 NLS binding site (minor) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ACACAAAAGGAAGCTGTGTGG 0.378000 35 103 0 0 0.023175 0 0 NPHS1 4868 broad.mit.edu 37 19 36330278 36330278 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:36330278G>A ENST00000378910.5 - 22 2969 c.2970C>T c.(2968-2970)gtC>gtT p.V990V NPHS1_ENST00000353632.6_Silent_p.V990V NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 990 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGTGGTACGACATCCACAT 0.582000 14 38 0 0 0.020292 0 0 KIAA1549 57670 broad.mit.edu 37 7 138555961 138555961 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:138555961G>A ENST00000440172.1 - 13 4541 c.4493C>T c.(4492-4494)cCc>cTc p.P1498L KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1498L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1448L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1498 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCGCTGGACGGGAGGTGCCGG 0.557000 O BRAF pilocytic astrocytoma 15 43 0 0 0.004990 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997520 46997520 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:46997520G>A ENST00000599531.1 - 1 2235 c.1203C>T c.(1201-1203)gtC>gtT p.V401V PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 401 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCTTGCGCAGGACCACGGCGT 0.677000 6 23 0 0 0.021553 0 0 EPHA3 2042 broad.mit.edu 37 3 89176412 89176412 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:89176412C>T ENST00000336596.2 + 2 367 c.142C>T c.(142-144)Cca>Tca p.P48S EPHA3_ENST00000494014.1_Missense_Mutation_p.P48S|EPHA3_ENST00000452448.2_Missense_Mutation_p.P48S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 48 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATCTCTTATCCATCACATGG 0.338000 TSP Lung(6;0.00050) 13 53 0 0 0.028581 0 0 RYR2 6262 broad.mit.edu 37 1 237919588 237919588 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:237919588G>A ENST00000366574.2 + 81 11463 c.11145_splice c.e81-1 p.E3716_splice RYR2_ENST00000542537.1_Splice_Site_p.E3700_splice|RYR2_ENST00000360064.6_Splice_Site_p.E3722_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3716 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGTGTTCAGGAAAAAGAAAT 0.443000 4 34 0 0 0.014758 0 0 SLC6A11 6538 broad.mit.edu 37 3 10865066 10865066 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:10865066G>A ENST00000254488.2 + 4 678 c.612G>A c.(610-612)atG>atA p.M204I SLC6A11_ENST00000454147.1_Missense_Mutation_p.M204I NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 204 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCCCTGTCATGGAGTTTTGGG 0.502000 16 43 0 0 0.028581 0 0 PLGLA 285189 broad.mit.edu 37 2 107007416 107007416 + RNA SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:107007416C>T ENST00000484422.1 + 0 265 GGGACGATGTCCAAAACAAAA 0.438000 3 26 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179616237 179616237 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179616237C>T ENST00000360870.5 - 46 11112 c.10890G>A c.(10888-10890)agG>agA p.R3630R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9479 Ig-like 22. 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) CAACCTTTATCCTATCTTCTC 0.363000 19 85 0 0 0.016522 0 0 ABCB5 340273 broad.mit.edu 37 7 20766713 20766713 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:20766713G>A ENST00000404938.2 + 22 3328 c.2676G>A c.(2674-2676)agG>agA p.R892R ABCB5_ENST00000258738.6_Silent_p.R447R NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 447 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CATTAACAAGGGAAAAAGCCT 0.308000 8 34 0 0 0.008291 0 0 GALNT2 2590 broad.mit.edu 37 1 230390970 230390970 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:230390970C>T ENST00000366672.4 + 11 1088 c.1016C>T c.(1015-1017)tCg>tTg p.S339L GALNT2_ENST00000541865.1_Silent_p.L214L|GALNT2_ENST00000543760.1_Missense_Mutation_p.S301L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 339 Catalytic subdomain B. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TCAGAGATCTCGTTCCGCGTG 0.617000 21 88 0 0 0.014323 0 0 GRHL2 79977 broad.mit.edu 37 8 102589725 102589725 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:102589725G>A ENST00000251808.3 + 7 1319 c.981G>A c.(979-981)gcG>gcA p.A327A GRHL2_ENST00000395927.1_Silent_p.A311A NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 327 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) AGCATACGGCGAAGCAGAGGG 0.498000 11 45 0 0 0.010729 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264052 32264052 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:32264052G>A ENST00000360482.2 - 8 2148 c.2019C>T c.(2017-2019)ccC>ccT p.P673P SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.P673P|SPOCD1_ENST00000257100.3_Silent_p.P166P NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 673 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGGTTCCTGGGGTCCCGCA 0.617000 14 37 0 0 0.004990 0 0 MEF2D 4209 broad.mit.edu 37 1 156437893 156437893 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:156437893G>A ENST00000348159.4 - 11 1926 c.1446C>T c.(1444-1446)gaC>gaT p.D482D MEF2D_ENST00000360595.3_Silent_p.D475D|MEF2D_ENST00000353795.3_Silent_p.D436D|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Silent_p.D475D|MEF2D_ENST00000340875.5_Silent_p.D481D NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 482 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGTCATCCCGGTCTCCCGTCT 0.701000 15 38 0 0 0.028581 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138638 126138638 + Silent SNP C C A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:126138638C>A ENST00000299308.3 + 9 2627 c.2619C>A c.(2617-2619)ccC>ccA p.P873P TMEM132B_ENST00000535886.1_Silent_p.P385P NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 873 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAAGCTTCCCCACTCAAGGGA 0.507000 9 21 7.48243e-07 7.8451e-07 0.006214 1 0 POTEA 340441 broad.mit.edu 37 8 43159852 43159852 + RNA SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:43159852T>A ENST00000522175.2 + 0 708 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AATTTGCCAATTACTTTCTGA 0.284000 8 20 0 0 0.003080 0 0 SCN3A 6328 broad.mit.edu 37 2 165994598 165994598 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:165994598G>A ENST00000360093.3 - 15 2673 c.2182C>T c.(2182-2184)Cca>Tca p.P728S SCN3A_ENST00000283254.7_Missense_Mutation_p.P728S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P679S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 728 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TACCAGCATGGCGGACATTTC 0.348000 12 29 0 0 0.016723 0 0 TNR 7143 broad.mit.edu 37 1 175335040 175335040 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:175335040C>T ENST00000367674.1 - 11 2996 c.2288G>A c.(2287-2289)aGc>aAc p.S763N TNR_ENST00000263525.2_Missense_Mutation_p.S763N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 763 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGACTCCAAGCTCTGCTGCCG 0.532000 18 66 0 0 0.008871 0 0 GBP3 2635 broad.mit.edu 37 1 89480263 89480263 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:89480263C>T ENST00000370481.4 - 4 615 c.395G>A c.(394-396)gGa>gAa p.G132E NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 132 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) GTTGATGGTTCCCATGCTATT 0.522000 26 76 0 0 0.007291 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 37 0 0 0.009096 0 0 PEX5 5830 broad.mit.edu 37 12 7343061 7343061 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7343061C>T ENST00000266563.5 + 2 271 c.88C>T c.(88-90)Ctt>Ttt p.L30F PEX5_ENST00000412720.2_Missense_Mutation_p.L51F|PEX5_ENST00000434354.2_Missense_Mutation_p.L30F|PEX5_ENST00000420616.2_Missense_Mutation_p.L30F|PEX5_ENST00000455147.2_Missense_Mutation_p.L30F|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Missense_Mutation_p.L30F NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 30 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GGACAAGGCCCTTCGGCAGGA 0.677000 6 44 0 0 0.001984 0 0 DNAH11 8701 broad.mit.edu 37 7 21826306 21826306 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:21826306C>T ENST00000328843.6 + 60 9714 c.9683C>T c.(9682-9684)gCc>gTc p.A3228V DNAH11_ENST00000409508.3_Missense_Mutation_p.A3221V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3228 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTTACTGCAGCCGTGATGGTC 0.522000 Kartagener syndrome 13 87 0 0 0.020292 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891916 30891916 + Splice_Site SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:30891916C>T ENST00000392772.2 - 3 288 c.12_splice c.e3+1 p.R4_splice SEC14L4_ENST00000540456.1_Splice_Site_p.G27_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.R58_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.R58_splice Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 58 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GATCCTTACCCTTCGGAGCAT 0.517000 4 20 0 0 0.021553 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803196 185803196 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:185803196G>A ENST00000302277.6 + 4 3667 c.3073G>A c.(3073-3075)Gct>Act p.A1025T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1025 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCAAATCCTGGCTCCATTAGC 0.418000 6 53 0 0 0.021553 0 0 PAH 5053 broad.mit.edu 37 12 103248959 103248959 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:103248959C>T ENST00000553106.1 - 6 1133 c.661G>A c.(661-663)Gaa>Aaa p.E221K PAH_ENST00000307000.2_Missense_Mutation_p.E216K NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 221 E -> G (in PKU; haplotype 4). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ATGTTATCTTCATGGAAGCCA 0.463000 6 27 0 0 0.001984 0 0 OBSCN 84033 broad.mit.edu 37 1 228444355 228444355 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:228444355C>T ENST00000570156.2 + 16 4663 c.4589C>T c.(4588-4590)cCc>cTc p.P1530L OBSCN_ENST00000284548.11_Missense_Mutation_p.P1438L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P1438L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 508 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCCCCAGAGCCCAAGGTGGTG 0.642000 4 33 0 0 0.009096 0 0 C6 729 broad.mit.edu 37 5 41155163 41155163 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:41155163G>A ENST00000263413.3 - 14 2276 c.2012C>T c.(2011-2013)tCa>tTa p.S671L C6_ENST00000337836.5_Missense_Mutation_p.S671L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 671 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTAAGGCATGAAATTTCAAC 0.398000 10 41 0 0 0.006214 0 0 LPPR2 64748 broad.mit.edu 37 19 11474875 11474875 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:11474875G>A ENST00000251473.5 + 9 1362 c.986G>A c.(985-987)gGc>gAc p.G329D DKFZP761J1410_ENST00000591608.1_Silent_p.R309R NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 CACCGGCACGGCTCACCCCAT 0.647000 13 94 0 0 0.024245 0 0 GZMB 3002 broad.mit.edu 37 14 25101557 25101557 + Missense_Mutation SNP G G C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:25101557G>C ENST00000216341.4 - 3 418 c.312C>G c.(310-312)aaC>aaG p.N104K GZMB_ENST00000382542.1_Missense_Mutation_p.N138K|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Intron|GZMB_ENST00000415355.3_Missense_Mutation_p.N92K|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Intron P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 104 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CGTTGGAGAAGTTCTTAGGAT 0.537000 31 106 0 0 0.021022 0 0 EDC4 23644 broad.mit.edu 37 16 67910468 67910468 + Missense_Mutation SNP C C G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:67910468C>G ENST00000358933.5 + 3 556 c.317C>G c.(316-318)tCt>tGt p.S106C EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 106 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) AGCAGTGACTCTAGCATTTCA 0.527000 3 37 0 0 0.014758 0 0 PCK1 5105 broad.mit.edu 37 20 56138106 56138106 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:56138106C>T ENST00000319441.4 + 5 797 c.633C>T c.(631-633)ccC>ccT p.P211P PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.P79P NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 211 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ACAACTGGCCCTGCAACCCGG 0.632000 10 53 0 0 0.008291 0 0 DNAH5 1767 broad.mit.edu 37 5 13824439 13824439 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:13824439G>A ENST00000265104.4 - 39 6552 c.6448C>T c.(6448-6450)Cat>Tat p.H2150Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2150 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGTCATAATGAACCTAGAGA 0.388000 Kartagener syndrome 3 23 0 0 0.004672 0 0 FBXO31 79791 broad.mit.edu 37 16 87364906 87364906 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:87364906G>A ENST00000311635.7 - 9 1620 c.1608C>T c.(1606-1608)tcC>tcT p.S536S RP11-178L8.4_ENST00000568879.1_Intron NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 536 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) AGGAGGTGAGGGACTGAATGT 0.582000 8 22 0 0 0.003080 0 0 GON4L 54856 broad.mit.edu 37 1 155736235 155736235 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:155736235G>A ENST00000437809.1 - 21 3151 c.3029C>T c.(3028-3030)cCc>cTc p.P1010L GON4L_ENST00000271883.5_Missense_Mutation_p.P1010L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P1010L|GON4L_ENST00000368331.1_Missense_Mutation_p.P1010L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1010 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGGAGAGAGGGGCTGGGTTG 0.557000 17 75 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179434480 179434480 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179434480C>T ENST00000589042.1 - 326 76603 c.76379G>A c.(76378-76380)gGa>gAa p.G25460E TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16395E|TTN_ENST00000342175.6_Missense_Mutation_p.G16587E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16520E|TTN_ENST00000342992.6_Missense_Mutation_p.G22892E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23819E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23819 Fibronectin type-III 85. 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) TTTATTAATTCCTGTTGGTGG 0.373000 10 49 0 0 0.010729 0 0 CAPN13 92291 broad.mit.edu 37 2 31010176 31010176 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:31010176C>T ENST00000295055.8 - 2 192 c.16G>A c.(16-18)Gag>Aag p.E6K CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.E6K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 6 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ACTGAAGGCTCCTGGTAATAC 0.502000 4 9 0 0 0.014758 0 0 SUN5 140732 broad.mit.edu 37 20 31585462 31585462 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:31585462C>T ENST00000356173.3 - 6 464 c.372G>A c.(370-372)tcG>tcA p.S124S SUN5_ENST00000375523.3_Silent_p.S99S NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 124 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CTTTCATTTTCGATGGTAAGT 0.473000 9 58 0 0 0.008291 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424095 89424095 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:89424095G>A ENST00000532352.1 + 0 1558 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CAGTGTCTATGAAACATATGA 0.368000 8 23 0 0 0.006214 0 0 SHOX2 6474 broad.mit.edu 37 3 157818099 157818099 + Splice_Site SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:157818099A>G ENST00000490689.2 - 3 1703 c.168_splice c.e3-1 p.V57_splice SHOX2_ENST00000425436.3_Splice_Site_p.V186_splice|SHOX2_ENST00000441443.2_Splice_Site_p.V57_splice|SHOX2_ENST00000483851.2_Splice_Site_p.V186_splice|SHOX2_ENST00000389589.4_Splice_Site_p.V210_splice O60902 SHOX2_HUMAN short stature homeobox 2 186 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V57A(2) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTGAAACCAAACCTATAGGTT 0.313000 5 56 0 0 0.014758 0 0 IGDCC4 57722 broad.mit.edu 37 15 65682535 65682535 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:65682535G>A ENST00000352385.2 - 13 2575 c.2366C>T c.(2365-2367)cCc>cTc p.P789L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 789 Fibronectin type-III 4. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GAGCCCCCAGGGGCTGAAGCG 0.517000 11 32 0 0 0.013537 0 0 SMPD3 55512 broad.mit.edu 37 16 68405331 68405331 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:68405331C>T ENST00000219334.5 - 3 1357 c.754G>A c.(754-756)Ggc>Agc p.G252S SMPD3_ENST00000563226.1_Missense_Mutation_p.G252S|SMPD3_ENST00000568373.1_Missense_Mutation_p.G252S NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 252 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GGCCGGCCGCCCTCCTCGCCA 0.711000 4 20 0 0 0.009096 0 0 CSMD1 64478 broad.mit.edu 37 8 3076863 3076863 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:3076863C>T ENST00000602557.1 - 30 5144 c.4589G>A c.(4588-4590)aGa>aAa p.R1530K CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1530K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1530K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1530K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1530 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTCTCTATTCTTTCTGGGGC 0.507000 3 4 0 0 0.004672 0 0 FPR3 2359 broad.mit.edu 37 19 52327094 52327094 + Silent SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:52327094A>G ENST00000339223.4 + 2 272 c.93A>G c.(91-93)ctA>ctG p.L31L FPR3_ENST00000595991.1_Silent_p.L31L NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 31 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TCTCATTGCTAGTCCACGGAG 0.542000 11 49 0 0 0.008291 0 0 CLVS1 157807 broad.mit.edu 37 8 62212827 62212827 + Silent SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:62212827T>C ENST00000519846.1 + 3 913 c.441T>C c.(439-441)aaT>aaC p.N147N CLVS1_ENST00000325897.4_Silent_p.N147N|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA Q8IUQ0 CLVS1_HUMAN clavesin 1 147 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTGCAGCCAATTGGGATCAGA 0.438000 3 22 0 0 0.004672 0 0 MFSD4 148808 broad.mit.edu 37 1 205554035 205554035 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:205554035G>A ENST00000367147.4 + 5 984 c.891G>A c.(889-891)agG>agA p.R297R MFSD4_ENST00000536357.1_Silent_p.R210R|MFSD4_ENST00000539267.1_Silent_p.R297R NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 297 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCTGCCAAAGGAAGAACCTCA 0.587000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 91 0 0 0.007291 0 0 RPRD2 23248 broad.mit.edu 37 1 150444375 150444375 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:150444375C>T ENST00000401000.4 + 10 2938 c.2873C>T c.(2872-2874)cCc>cTc p.P958L RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P984L|RPRD2_ENST00000539519.1_Silent_p.S911S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 984 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTTGCCGCTCCCACGGGTCAC 0.547000 52 233 0 0 0.014410 0 0 PROX1 5629 broad.mit.edu 37 1 214171436 214171436 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:214171436G>A ENST00000366958.4 + 2 2166 c.1558G>A c.(1558-1560)Gat>Aat p.D520N PROX1_ENST00000498508.2_Missense_Mutation_p.D520N|PROX1_ENST00000435016.1_Missense_Mutation_p.D520N|PROX1_ENST00000261454.4_Missense_Mutation_p.D520N NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 520 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTTAACTAGGGATACCACGAG 0.557000 10 88 0 0 0.013537 0 0 MAN1A1 4121 broad.mit.edu 37 6 119525949 119525949 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:119525949G>A ENST00000368468.3 - 7 1532 c.1091C>T c.(1090-1092)tCa>tTa p.S364L NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 364 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GGGGTTTCCTGATAAGTGGCT 0.468000 12 59 0 0 0.010729 0 0 OR8D1 283159 broad.mit.edu 37 11 124180174 124180174 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:124180174C>T ENST00000357821.2 - 1 559 c.489G>A c.(487-489)atG>atA p.M163I NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACAGTTTCATCATGGCACTTG 0.468000 4 14 0 0 0.014758 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515911 140515911 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140515911G>A ENST00000231134.5 + 1 1112 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 299 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAACAGCAGAAATTCGCCT 0.448000 20 74 0 0 0.010504 0 0 DCAF6 55827 broad.mit.edu 37 1 168012370 168012370 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:168012370G>A ENST00000367840.3 + 14 1929 c.1835G>A c.(1834-1836)aGt>aAt p.S612N DCAF6_ENST00000367843.3_Missense_Mutation_p.S555N|DCAF6_ENST00000312263.6_Missense_Mutation_p.S535N|DCAF6_ENST00000432587.2_Missense_Mutation_p.S581N NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 571 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GAAGGAGACAGTGAAACAAGT 0.408000 11 37 0 0 0.010729 0 0 CTRC 11330 broad.mit.edu 37 1 15772132 15772132 + Missense_Mutation SNP G G A rs142027137 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:15772132G>A ENST00000375949.4 + 7 706 c.680G>A c.(679-681)gGt>gAt p.G227D CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 227 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGAGAACGGTTCCTGGGAG 0.647000 24 65 0 0 0.018920 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146391 5146391 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:5146391C>T ENST00000274181.7 + 3 462 c.324C>T c.(322-324)ttC>ttT p.F108F ADAMTS16_ENST00000511368.1_Silent_p.F108F|CTD-2297D10.1_ENST00000514848.1_RNA NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 108 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCACGACTTCCACATGGATC 0.552000 11 39 0 0 0.008291 0 0 SMARCA5 8467 broad.mit.edu 37 4 144466732 144466732 + Missense_Mutation SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:144466732A>C ENST00000283131.3 + 18 2855 c.2393A>C c.(2392-2394)tAc>tCc p.Y798S NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 798 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) ACTATTGGGTACAAGGTAATT 0.318000 4 39 0 0 0.009096 0 0 OR2W5 441932 broad.mit.edu 37 1 247654770 247654770 + RNA SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:247654770T>C ENST00000522351.1 + 0 401 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGTGCGTCCTCCTGGTTGTC 0.602000 10 63 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179606096 179606096 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179606096G>A ENST00000589042.1 - 48 12088 c.11864C>T c.(11863-11865)gCc>gTc p.A3955V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A3592V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A3784V|TTN_ENST00000359218.5_Missense_Mutation_p.A3717V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A3638V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3638 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) CTCAAAGATGGCAGGAAGCCC 0.458000 35 125 0 0 0.017118 0 0 OR13C2 392376 broad.mit.edu 37 9 107367138 107367138 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:107367138G>A ENST00000542196.1 - 1 813 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCATGTACATGAAGAGGATGG 0.438000 6 49 0 0 0.001984 0 0 REPS2 9185 broad.mit.edu 37 X 17040294 17040294 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:17040294G>A ENST00000357277.3 + 3 617 c.446G>A c.(445-447)cGa>cAa p.R149Q REPS2_ENST00000303843.7_Missense_Mutation_p.R149Q|REPS2_ENST00000380064.4_Missense_Mutation_p.R10Q NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 149 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GGTGAGATACGATTTGGGAAC 0.393000 18 95 0 0 0.007413 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913507 47913507 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:47913507C>T ENST00000289672.2 - 24 3936 c.3886G>A c.(3886-3888)Ggc>Agc p.G1296S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1296 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGTCCTCGCCCAGACAGTCA 0.507000 8 36 0 0 0.003080 0 0 PKD1L1 168507 broad.mit.edu 37 7 47874752 47874752 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:47874752G>A ENST00000289672.2 - 38 6083 c.6033C>T c.(6031-6033)tcC>tcT p.S2011S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2011 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGAAGAGCAGGGACAAGAGCT 0.607000 7 41 0 0 0.003080 0 0 TMC5 79838 broad.mit.edu 37 16 19485449 19485449 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:19485449C>T ENST00000396229.2 + 12 2690 c.1941C>T c.(1939-1941)ttC>ttT p.F647F TMC5_ENST00000564959.1_Silent_p.F330F|TMC5_ENST00000561503.1_Silent_p.F288F|TMC5_ENST00000542583.2_Silent_p.F647F|TMC5_ENST00000541464.1_Silent_p.F595F|TMC5_ENST00000381414.4_Silent_p.F647F|TMC5_ENST00000219821.5_Silent_p.F401F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 647 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCCTGCAGTTCCTGAAGACAC 0.522000 25 106 0 0 0.009535 0 0 HLA-F 3134 broad.mit.edu 37 6 29692182 29692182 + Silent SNP C C T rs138293991 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:29692182C>T ENST00000440587.2 + 3 572 c.213C>T c.(211-213)ctC>ctT p.L71L HLA-F_ENST00000434407.2_Silent_p.L189L|HLA-F_ENST00000334668.4_Silent_p.L189L|HLA-F_ENST00000376861.1_Silent_p.L189L|HLA-F_ENST00000259951.7_Silent_p.L189L P30511 HLAF_HUMAN major histocompatibility complex, class I, F 189 Alpha-1. P -> Q (in dbSNP:rs17875380). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.L189L(2) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGGAGTTGCTCCGCAGATACT 0.602000 8 52 0 0 0.004482 0 0 NAA25 80018 broad.mit.edu 37 12 112499158 112499158 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:112499158G>A ENST00000261745.4 - 12 1432 c.1184C>T c.(1183-1185)tCg>tTg p.S395L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 395 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TGTTGGTGTCGACAAAGGAAC 0.453000 9 32 0 0 0.006214 0 0 TBC1D8 11138 broad.mit.edu 37 2 101652558 101652558 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:101652558G>A ENST00000409318.1 - 9 1655 c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C TBC1D8_ENST00000376840.4_Missense_Mutation_p.R494C NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 494 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TTCTCTGTGCGAAACATACAC 0.468000 20 122 0 0 0.010504 0 0 CTSW 1521 broad.mit.edu 37 11 65649973 65649973 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:65649973G>A ENST00000528419.1 + 5 518 c.514G>A c.(514-516)Gat>Aat p.D172N CTSW_ENST00000307886.3_Missense_Mutation_p.D172N P56202 CATW_HUMAN cathepsin W 172 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) CAGTTTCTGGGATTTTGTGGA 0.627000 10 45 0 0 0.008291 0 0 SI 6476 broad.mit.edu 37 3 164750437 164750437 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:164750437C>T ENST00000264382.3 - 24 2671 c.2609G>A c.(2608-2610)gGa>gAa p.G870E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 870 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTAGTTCCTTCCTGATA 0.348000 HNSCC(35;0.089) 6 34 0 0 0.001984 0 0 OR5H14 403273 broad.mit.edu 37 3 97868537 97868537 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:97868537C>T ENST00000437310.1 + 1 368 c.308C>T c.(307-309)tCg>tTg p.S103L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S103L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAGTTGTTTTCGTTTGCAATC 0.393000 28 100 0 0 0.008361 0 0 PTPN3 5774 broad.mit.edu 37 9 112172648 112172648 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:112172648G>A ENST00000412145.1 - 10 3521 c.968C>T c.(967-969)tCa>tTa p.S323L PTPN3_ENST00000446349.1_Missense_Mutation_p.S278L|PTPN3_ENST00000374541.2_Missense_Mutation_p.S454L|PTPN3_ENST00000262539.3_Missense_Mutation_p.S300L|PTPN3_ENST00000394827.3_5'UTR NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 454 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGAACTGGATGACTTCTGGGT 0.468000 6 55 0 0 0.021553 0 0 PKP2 5318 broad.mit.edu 37 12 33003895 33003895 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:33003895G>A ENST00000340811.4 - 5 1291 c.1183C>T c.(1183-1185)Cgt>Tgt p.R395C PKP2_ENST00000070846.6_Missense_Mutation_p.R395C NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 395 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGGATGCCACGAAGCTGGTTA 0.408000 16 36 0 0 0.024245 0 0 MARCO 8685 broad.mit.edu 37 2 119748183 119748183 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:119748183G>A ENST00000541757.1 + 14 1228 c.848G>A c.(847-849)gGa>gAa p.G283E MARCO_ENST00000327097.4_Missense_Mutation_p.G361E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 361 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGACAGCAAGGAAGAAAAGGA 0.468000 14 43 0 0 0.004990 0 0 DOCK4 9732 broad.mit.edu 37 7 111409609 111409609 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:111409609G>A ENST00000428084.1 - 37 4076 c.3804C>T c.(3802-3804)atC>atT p.I1268I DOCK4_ENST00000494651.2_Silent_p.I142I|DOCK4_ENST00000437633.1_Silent_p.I1259I Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1259 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) AGTTCTGGATGATGGTGAGGT 0.552000 16 61 0 0 0.006122 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508025 37508025 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:37508025G>A ENST00000374660.1 + 40 3673 c.3574G>A c.(3574-3576)Gaa>Aaa p.E1192K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1073K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1161 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 CCAGGAAAAGGAAAATAAATA 0.318000 18 44 0 0 0.004990 0 0 VCAN 1462 broad.mit.edu 37 5 82815321 82815321 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:82815321G>A ENST00000265077.3 + 7 1761 c.1196G>A c.(1195-1197)gGa>gAa p.G399E VCAN_ENST00000342785.4_Missense_Mutation_p.G399E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G351E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 399 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTCCCGTGGGAAATATTGTC 0.423000 7 99 0 0 0.001984 0 0 SORBS1 10580 broad.mit.edu 37 10 97097017 97097017 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:97097017G>A ENST00000371247.2 - 30 3089 c.2900C>T c.(2899-2901)cCc>cTc p.P967L SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P921L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P967L Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 967 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CAGAGATGAGGGGGCTGGCGT 0.532000 3 15 0 0 0.004672 0 0 CXCR3 2833 broad.mit.edu 37 X 70836525 70836525 + Missense_Mutation SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:70836525A>C ENST00000373691.4 - 2 1101 c.938T>G c.(937-939)cTc>cGc p.L313R CXCR3_ENST00000373693.3_Missense_Mutation_p.L266R NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 266 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GGTCCAGCAGAGGGCAAAGGC 0.662000 3 26 0 0 0.009096 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174235 150174235 + Silent SNP G G T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:150174235G>T ENST00000307271.3 + 5 1939 c.1365G>T c.(1363-1365)ggG>ggT p.G455G NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 455 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTGCGACCGGGAACTCTATCC 0.592000 11 66 2.80697e-09 2.96572e-09 0.010729 1 0 SPANXN5 494197 broad.mit.edu 37 X 52825576 52825576 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:52825576C>T ENST00000375511.3 - 2 923 c.171G>A c.(169-171)agG>agA p.R57R NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 57 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TCTTAGTCTTCCTGTAGCACA 0.428000 6 52 0 0 0.021553 0 0 MYLK 4638 broad.mit.edu 37 3 123419849 123419849 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:123419849C>T ENST00000360772.3 - 19 2844 c.2466G>A c.(2464-2466)ggG>ggA p.G822G MYLK_ENST00000475616.1_Silent_p.G822G|MYLK_ENST00000346322.5_Silent_p.G753G|MYLK_ENST00000360304.3_Silent_p.G822G|MYLK_ENST00000359169.1_Silent_p.G822G Q15746 MYLK_HUMAN myosin light chain kinase 822 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGCTCCCTCCCCCTGCAAC 0.592000 5 24 0 0 0.021553 0 0 PDGFRB 5159 broad.mit.edu 37 5 149495355 149495355 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:149495355G>A ENST00000261799.4 - 23 3761 c.3292C>T c.(3292-3294)Cgg>Tgg p.R1098W NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1098 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTTCCGCCCGAGGCGCAGGG 0.687000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 10 30 0 0 0.020292 0 0 TCTN1 79600 broad.mit.edu 37 12 111066730 111066730 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:111066730C>T ENST00000550703.2 + 4 787 c.631C>T c.(631-633)Ctg>Ttg p.L211L TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000551590.1_Intron|TCTN1_ENST00000397659.4_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 213 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TGAGGTGAGCCTGAACTTGAT 0.358000 9 26 0 0 0.006214 0 0 CRNN 49860 broad.mit.edu 37 1 152383215 152383215 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:152383215C>T ENST00000271835.3 - 3 405 c.343G>A c.(343-345)Gaa>Aaa p.E115K RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 115 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCCTTCGCCCAGCTCC 0.617000 44 230 0 0 0.014410 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215553 134215553 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:134215553C>T ENST00000359579.4 + 2 545 c.225C>T c.(223-225)atC>atT p.I75I AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 75 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 ACCTGTTCATCGTCAGCAAGG 0.512000 10 55 0 0 0.010729 0 0 DAW1 164781 broad.mit.edu 37 2 228750084 228750084 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:228750084G>A ENST00000373666.2 + 2 694 c.58G>A c.(58-60)Gaa>Aaa p.E20K DAW1_ENST00000545118.1_Missense_Mutation_p.E5K|DAW1_ENST00000309931.2_Missense_Mutation_p.E20K dynein assembly factor with WDR repeat domains 1 GTTGGAATATGAAAAACATGG 0.338000 8 54 0 0 0.008291 0 0 IL6 3569 broad.mit.edu 37 7 22769227 22769227 + Missense_Mutation SNP C C G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:22769227C>G ENST00000404625.1 + 5 878 c.419C>G c.(418-420)gCc>gGc p.A140G IL6_ENST00000420258.2_Missense_Mutation_p.A194G|IL6_ENST00000258743.5_Missense_Mutation_p.A140G|IL6_ENST00000401651.1_Missense_Mutation_p.A64G|IL6_ENST00000407492.1_Missense_Mutation_p.A64G|IL6_ENST00000406575.1_Missense_Mutation_p.A140G|IL6_ENST00000401630.3_Missense_Mutation_p.A117G P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 140 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) GAGGAACAAGCCAGAGCTGTG 0.478000 13 50 0 0 0.020292 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278227 47278227 + Translation_Start_Site SNP C C A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:47278227C>A ENST00000452782.2 + 0 172 CYP4B1_ENST00000271153.4_Missense_Mutation_p.P143T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P143T|CYP4B1_ENST00000371919.4_Missense_Mutation_p.P128T P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCTGCTCACACCTGGCTTTCA 0.587000 10 61 1.76689e-08 1.86203e-08 0.006214 1 0 MPP7 143098 broad.mit.edu 37 10 28409131 28409131 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:28409131G>A ENST00000337532.5 - 11 1155 c.879C>T c.(877-879)ttC>ttT p.F293F MPP7_ENST00000540098.1_Silent_p.F293F|MPP7_ENST00000375732.1_Silent_p.F293F|MPP7_ENST00000445954.2_Silent_p.F168F|MPP7_ENST00000375719.3_Silent_p.F293F NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 293 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ACCTTTCCTGGAAATGCTTTG 0.438000 8 33 0 0 0.003080 0 0 SBSN 374897 broad.mit.edu 37 19 36017757 36017757 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:36017757G>A ENST00000452271.2 - 1 1455 c.1427C>T c.(1426-1428)gCg>gTg p.A476V SBSN_ENST00000518157.1_Missense_Mutation_p.A133V NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 133 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCCTTGGACCGCTTTGTCTGC 0.607000 12 16 0 0 0.013537 0 0 LAMA4 3910 broad.mit.edu 37 6 112440433 112440433 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:112440433C>T ENST00000230538.7 - 34 5144 c.4747G>A c.(4747-4749)Gaa>Aaa p.E1583K LAMA4_ENST00000424408.2_Missense_Mutation_p.E1576K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1576K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1576K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1583 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGGTAGCTTCAGTAGGAGGA 0.478000 18 63 0 0 0.008871 0 0 AP2B1 163 broad.mit.edu 37 17 33977562 33977562 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:33977562C>T ENST00000262325.7 + 13 2103 c.1550C>T c.(1549-1551)cCt>cTt p.P517L AP2B1_ENST00000592545.1_Missense_Mutation_p.P479L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.P517L|AP2B1_ENST00000538556.1_Missense_Mutation_p.P460L|AP2B1_ENST00000537622.2_Missense_Mutation_p.P517L|AP2B1_ENST00000312678.8_Missense_Mutation_p.P517L NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 517 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity p.P517R(1) NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TCTGATAATCCTGACCTTCGA 0.443000 28 94 0 0 0.009535 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138637 126138637 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:126138637C>T ENST00000299308.3 + 9 2626 c.2618C>T c.(2617-2619)cCc>cTc p.P873L TMEM132B_ENST00000535886.1_Missense_Mutation_p.P385L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 873 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACAAGCTTCCCCACTCAAGGG 0.507000 9 22 0 0 0.006214 0 0 MTMR7 9108 broad.mit.edu 37 8 17198974 17198974 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:17198974G>A ENST00000180173.5 - 6 664 c.630C>T c.(628-630)tcC>tcT p.S210S MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Silent_p.S210S NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 210 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CACTGAAGCCGGACAGGGGCT 0.577000 12 38 0 0 0.013537 0 0 CD160 11126 broad.mit.edu 37 1 145704307 145704307 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:145704307C>T ENST00000235933.6 - 2 212 c.110G>A c.(109-111)gGa>gAa p.G37E CD160_ENST00000401557.3_Missense_Mutation_p.G37E|CD160_ENST00000369288.2_Missense_Mutation_p.G37E|CD160_ENST00000369290.1_Intron O95971 BY55_HUMAN CD160 molecule 37 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TAGTCGCGTTCCTTCCTGGGA 0.458000 5 36 0 0 0.001984 0 0 POLD1 5424 broad.mit.edu 37 19 50902643 50902643 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:50902643C>T ENST00000440232.2 + 3 271 c.218C>T c.(217-219)tCa>tTa p.S73L POLD1_ENST00000595904.1_Missense_Mutation_p.S73L|POLD1_ENST00000599857.1_Missense_Mutation_p.S73L NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 73 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GTCCCACCATCAGCCATAGAT 0.592000 DNA polymerases (catalytic subunits) 8 28 0 0 0.006214 0 0 SCRN2 90507 broad.mit.edu 37 17 45915274 45915274 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:45915274G>A ENST00000584123.1 - 7 1543 c.1238C>T c.(1237-1239)cCc>cTc p.P413L SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000290216.9_Missense_Mutation_p.P405L Q96FV2 SCRN2_HUMAN secernin 2 405 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 CTCCCAGAGGGGTGGGGCCCA 0.662000 5 28 0 0 0.001984 0 0 MICAL3 57553 broad.mit.edu 37 22 18301315 18301315 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:18301315G>A ENST00000441493.2 - 26 4464 c.4112C>T c.(4111-4113)tCc>tTc p.S1371F NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1371 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATCCTGGGGGGACTTTTCAAC 0.637000 15 168 0 0 0.028581 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020774 33020774 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:33020774G>A ENST00000565407.2 + 0 182 RP11-19N8.2_ENST00000567619.1_RNA CAGGCTCCAGGGAAGGGACTG 0.562000 39 222 0 0 0.008740 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531943 140531943 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140531943C>T ENST00000231136.1 + 1 2105 c.2105C>T c.(2104-2106)tCg>tTg p.S702L PCDHB6_ENST00000543635.1_Missense_Mutation_p.S566L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 702 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S702L(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.687000 31 116 0 0 0.017118 0 0 CYP2U1 113612 broad.mit.edu 37 4 108870574 108870574 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:108870574C>T ENST00000332884.6 + 4 1632 c.1357C>T c.(1357-1359)Cca>Tca p.P453S RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P244S NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 453 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ACATAGAGACCCAGCCATTTG 0.408000 4 42 0 0 0.009096 0 0 ALG5 29880 broad.mit.edu 37 13 37569629 37569629 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:37569629G>A ENST00000239891.3 - 2 237 c.171C>T c.(169-171)ccC>ccT p.P57P ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.P57P|ALG5_ENST00000443765.1_Silent_p.P57P NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 57 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) CCCATATGCTGGGTAAAGTTT 0.403000 14 57 0 0 0.020292 0 0 ZNF716 441234 broad.mit.edu 37 7 57522875 57522875 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:57522875G>A ENST00000420713.1 + 3 374 c.e3+1 NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AAACACCCAGGTAGGTGAGAG 0.458000 15 66 0 0 0.024245 0 0 IL7R 3575 broad.mit.edu 37 5 35876446 35876446 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:35876446G>A ENST00000303115.3 + 8 1367 c.1238G>A c.(1237-1239)aGc>aAc p.S413N IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 413 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ACTACAAACAGCACGCTGCCC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 14 40 0 0 0.028581 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 36 0 0 0.004672 0 0 RFPL1 5988 broad.mit.edu 37 22 29837577 29837577 + Silent SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:29837577T>A ENST00000354373.2 + 2 629 c.420T>A c.(418-420)atT>atA p.I140I RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 140 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCCTCCTCATTTCTGACGACC 0.512000 19 58 0 0 0.012319 0 0 MYH9 4627 broad.mit.edu 37 22 36698617 36698617 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:36698617G>A ENST00000216181.5 - 20 2726 c.2496C>T c.(2494-2496)acC>acT p.T832T NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 832 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACGCACCTTGGTGAAGAGCC 0.567000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 15 48 0 0 0.004990 0 0 C3 718 broad.mit.edu 37 19 6702496 6702496 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:6702496C>T ENST00000245907.6 - 18 2432 c.2340G>A c.(2338-2340)gaG>gaA p.E780E NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 780 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTTTCGGTGGCTCTTTCAAGT 0.527000 16 72 0 0 0.004990 0 0 RNF8 9025 broad.mit.edu 37 6 37336896 37336896 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:37336896C>T ENST00000373479.4 + 3 1070 c.877C>T c.(877-879)Cag>Tag p.Q293* RNF8_ENST00000469731.1_Nonsense_Mutation_p.Q293*|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 293 Gln-rich. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GCAGGAACTTCAGGACTTACA 0.468000 9 38 0 0 0.006214 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477438 110477438 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:110477438G>A ENST00000378402.5 + 49 8481 c.8377G>A c.(8377-8379)Gaa>Aaa p.E2793K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2793 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGGGAACATGAAATGGTAAT 0.388000 HNSCC(38;0.096) 5 30 0 0 0.003080 0 0 PRRC2A 7916 broad.mit.edu 37 6 31596995 31596995 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:31596995C>T ENST00000376033.2 + 13 2074 c.1840C>T c.(1840-1842)Cca>Tca p.P614S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P614S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 614 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 ACCCCCAGTTCCAAAGGTGGA 0.552000 26 98 0 0 0.027356 0 0 DOCK11 139818 broad.mit.edu 37 X 117712602 117712602 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:117712602C>T ENST00000276204.6 + 13 1578 c.1504C>T c.(1504-1506)Cca>Tca p.P502S DOCK11_ENST00000276202.7_Missense_Mutation_p.P502S|DOCK11_ENST00000498252.1_3'UTR Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 502 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAATTCTGATCCAGTAAAGGT 0.343000 5 19 0 0 0.014758 0 0 TMEM8C 389827 broad.mit.edu 37 9 136385350 136385350 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:136385350G>A ENST00000339996.3 - 2 297 c.196C>T c.(196-198)Ctg>Ttg p.L66L TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 66 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 AAATACTCCAGGATGTCGTGA 0.587000 3 27 0 0 0.004672 0 0 SV2C 22987 broad.mit.edu 37 5 75490905 75490905 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:75490905C>T ENST00000502798.2 + 3 1184 c.742C>T c.(742-744)Cgc>Tgc p.R248C SV2C_ENST00000322285.7_Missense_Mutation_p.R248C NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 248 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCTCTTCTGTCGCTTACTTTC 0.388000 20 184 0 0 0.016522 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161538 40161538 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:40161538G>A ENST00000325157.6 - 6 1159 c.909C>T c.(907-909)atC>atT p.I303I NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 303 p.I303I(1) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TATTTGTAAAGATACCATCTG 0.383000 15 75 0 0 0.004990 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26885410 26885410 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:26885410C>T ENST00000374168.2 + 14 1351 c.1197C>T c.(1195-1197)ccC>ccT p.P399P RPS6KA1_ENST00000526792.1_Silent_p.P307P|RPS6KA1_ENST00000530003.1_Silent_p.P383P|RPS6KA1_ENST00000531382.1_Silent_p.P408P|RPS6KA1_ENST00000374166.4_Silent_p.P388P|RPS6KA1_ENST00000374162.2_Silent_p.P307P NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 399 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CGCAGGCACCCCTGCACTCGG 0.632000 16 35 0 0 0.006122 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:111312580C>T ENST00000317012.4 - 2 1477 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 157 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 18 56 0 0 0.016522 0 0 MRPL4 51073 broad.mit.edu 37 19 10367430 10367430 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:10367430G>A ENST00000393733.2 + 5 401 c.374G>A c.(373-375)cGg>cAg p.R125Q CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.R125Q|MRPL4_ENST00000253099.6_Missense_Mutation_p.R125Q|MRPL4_ENST00000588502.1_Missense_Mutation_p.R124Q|MRPL4_ENST00000307422.5_Missense_Mutation_p.R125Q Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 125 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) GGCGGTGGCCGGAAGCCTTGG 0.687000 4 106 0 0 0.009096 0 0 PDGFRA 5156 broad.mit.edu 37 4 55153703 55153703 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:55153703C>T ENST00000257290.5 + 19 3000 c.2669C>T c.(2668-2670)tCc>tTc p.S890F FIP1L1_ENST00000507166.1_Missense_Mutation_p.S650F NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 890 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.S890F(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAGATCTTTTCCCTTGGTATG 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 20 54 0 0 0.008871 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217899 150217899 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:150217899G>A ENST00000313543.4 + 2 994 c.837G>A c.(835-837)agG>agA p.R279R NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 279 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTTAATAGGATTTGGAAGA 0.239000 6 20 0 0 0.003080 0 0 TNXB 7148 broad.mit.edu 37 6 32037589 32037589 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:32037589G>A ENST00000375244.3 - 15 5529 c.5328C>T c.(5326-5328)ccC>ccT p.P1776P TNXB_ENST00000375247.2_Silent_p.P1776P P22105 TENX_HUMAN tenascin XB 1858 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCCCAGACGGGGTTTTGGGG 0.587000 67 302 0 0 0.014410 0 0 TTC18 118491 broad.mit.edu 37 10 75101312 75101312 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75101312C>T ENST00000310715.3 - 7 757 c.637G>A c.(637-639)Gga>Aga p.G213R TTC18_ENST00000401621.2_Missense_Mutation_p.G213R|TTC18_ENST00000394865.1_Missense_Mutation_p.G213R|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Missense_Mutation_p.G213R NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 213 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTCAGAGTTCCATTCTTAAAT 0.413000 12 44 0 0 0.016723 0 0 KSR2 283455 broad.mit.edu 37 12 118293378 118293378 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:118293378G>A ENST00000425217.1 - 3 294 c.240C>T c.(238-240)atC>atT p.I80I KSR2_ENST00000339824.5_Silent_p.I109I NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 109 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCGGGGGAGATTTCCTAGA 0.602000 7 20 0 0 0.001984 0 0 NUMB 8650 broad.mit.edu 37 14 73783103 73783103 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:73783103C>T ENST00000355058.3 - 6 507 c.229G>A c.(229-231)Gga>Aga p.G77R NUMB_ENST00000356296.4_Missense_Mutation_p.G77R|NUMB_ENST00000359560.3_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.G77R|NUMB_ENST00000454166.4_Missense_Mutation_p.G77R|NUMB_ENST00000557597.1_Intron|NUMB_ENST00000559312.1_Missense_Mutation_p.G77R|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000544991.3_Missense_Mutation_p.G77R|NUMB_ENST00000535282.1_Intron|NUMB_ENST00000555394.1_Missense_Mutation_p.G77R|NUMB_ENST00000560335.1_Missense_Mutation_p.G77R P49757 NUMB_HUMAN numb homolog (Drosophila) 77 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CTTACTTTTCCAAAGAAGCCT 0.403000 6 40 0 0 0.004482 0 0 LPA 4018 broad.mit.edu 37 6 161007619 161007619 + Missense_Mutation SNP G G A rs147936725 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:161007619G>A ENST00000447678.1 - 26 4111 c.3991C>T c.(3991-3993)Cgc>Tgc p.R1331C LPA_ENST00000316300.5_Missense_Mutation_p.R1331C NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3839 Kringle 12. 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) CACCAAGGGCGAATCTCAGCA 0.498000 17 30 0 0 0.004990 0 0 PCYT1B 9468 broad.mit.edu 37 X 24625972 24625972 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:24625972C>T ENST00000379145.1 - 3 214 c.170G>A c.(169-171)aGg>aAg p.R57K PCYT1B_ENST00000356768.4_Missense_Mutation_p.R75K|PCYT1B_ENST00000379144.2_Missense_Mutation_p.R75K NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 75 endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) TCTGACAGGCCTGTCAGCTGT 0.443000 3 11 0 0 0.014758 0 0 KDM6A 7403 broad.mit.edu 37 X 44922683 44922683 + Missense_Mutation SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:44922683T>C ENST00000377967.4 + 16 1585 c.1544T>C c.(1543-1545)gTt>gCt p.V515A KDM6A_ENST00000543216.1_Missense_Mutation_p.V436A|KDM6A_ENST00000536777.1_Missense_Mutation_p.V470A|KDM6A_ENST00000382899.4_Missense_Mutation_p.V522A NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 515 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CCAACAGGAGTTGCACAGGTA 0.458000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 32 0 0 0.003080 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948130 119948130 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:119948130C>T ENST00000307142.4 + 3 802 c.606C>T c.(604-606)tcC>tcT p.S202S SYNPO2_ENST00000429713.2_Silent_p.S202S|SYNPO2_ENST00000434046.2_Silent_p.S202S|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 202 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGCAACTGTCCCTTTCACAGG 0.537000 5 21 0 0 0.014758 0 0 ABCC8 6833 broad.mit.edu 37 11 17491762 17491762 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:17491762C>T ENST00000302539.4 - 3 423 c.298G>A c.(298-300)Gaa>Aaa p.E100K ABCC8_ENST00000389817.3_Missense_Mutation_p.E100K NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 100 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTGGGATTCGGTCACCCTG 0.527000 70 188 0 0 0.014410 0 0 MDGA1 266727 broad.mit.edu 37 6 37622290 37622290 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:37622290C>T ENST00000434837.2 - 6 1920 c.742G>A c.(742-744)Gaa>Aaa p.E248K MDGA1_ENST00000505425.1_Missense_Mutation_p.E248K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E248K NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 248 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCAGAGTTTCGTTCACAGAC 0.617000 25 94 0 0 0.027356 0 0 ST7L 54879 broad.mit.edu 37 1 113124629 113124629 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:113124629G>A ENST00000358039.4 - 9 1358 c.1054C>T c.(1054-1056)Cta>Tta p.L352L ST7L_ENST00000343210.7_Silent_p.L352L|ST7L_ENST00000490067.1_Silent_p.L335L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000544629.1_Silent_p.L287L|ST7L_ENST00000369666.1_Silent_p.L335L|ST7L_ENST00000369668.2_Silent_p.L352L|ST7L_ENST00000369669.1_Silent_p.L169L|ST7L_ENST00000360743.4_Silent_p.L352L|ST7L_ENST00000543570.1_Silent_p.L335L|ST7L_ENST00000538187.1_Silent_p.L296L NM_017744.4|NM_138727.3 NP_060214.2|NP_620055.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like 352 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTTTGCTAGGACTGCCTGA 0.323000 5 27 0 0 0.021553 0 0 ETNK1 55500 broad.mit.edu 37 12 22796809 22796809 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:22796809G>A ENST00000266517.4 + 2 625 c.536G>A c.(535-537)cGa>cAa p.R179Q ETNK1_ENST00000335148.3_Missense_Mutation_p.R179Q NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 179 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTAGTCGATCGAGATGAGGAA 0.403000 10 63 0 0 0.008291 0 0 GRIA1 2890 broad.mit.edu 37 5 153190642 153190642 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:153190642C>T ENST00000285900.5 + 16 2921 c.2578C>T c.(2578-2580)Ccc>Tcc p.P860S GRIA1_ENST00000340592.5_Missense_Mutation_p.P860S|GRIA1_ENST00000521843.2_Missense_Mutation_p.P791S|GRIA1_ENST00000518142.1_Missense_Mutation_p.P780S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P870S|GRIA1_ENST00000448073.4_Missense_Mutation_p.P870S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 860 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATCGACCCTCCCCCGCAACAG 0.582000 8 54 0 0 0.006214 0 0 ZAN 7455 broad.mit.edu 37 7 100334225 100334225 + RNA SNP G G C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:100334225G>C ENST00000542585.1 + 0 374 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGGCTCCACCGGGGCCCCCGG 0.642000 14 21 0 0 0.024245 0 0 APH1A 51107 broad.mit.edu 37 1 150238977 150238977 + Missense_Mutation SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:150238977A>G ENST00000360244.4 - 6 1181 c.689T>C c.(688-690)aTc>aCc p.I230T APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.I230T|APH1A_ENST00000414276.2_Missense_Mutation_p.I160T NM_016022.3 NP_057106.2 Q96BI3 APH1A_HUMAN APH1A gamma secretase subunit 230 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCAGCTGTGATGAAGGCCCA 0.562000 5 31 0 0 0.014758 0 0 SNHG14 104472715 broad.mit.edu 37 15 25432747 25432747 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:25432747G>A ENST00000424208.1 + 0 761 SNORD115-10_ENST00000365073.1_RNA NR_003305.1 ATGCTCAATAGGATTACGCTG 0.483000 59 158 0 0 0.014410 0 0 KRT26 353288 broad.mit.edu 37 17 38926324 38926324 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:38926324C>T ENST00000335552.4 - 4 780 c.732G>A c.(730-732)atG>atA p.M244I NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 244 Linker 12.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GGGTTGCATTCATCTCCACGT 0.483000 22 67 0 0 0.012319 0 0 VASH2 79805 broad.mit.edu 37 1 213146268 213146268 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:213146268G>A ENST00000366968.4 + 7 999 c.649G>A c.(649-651)Gag>Aag p.E217K VASH2_ENST00000517399.1_Missense_Mutation_p.E282K|VASH2_ENST00000366967.2_Missense_Mutation_p.E178K|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.E238K|VASH2_ENST00000366964.3_Missense_Mutation_p.E140K|VASH2_ENST00000366966.2_Missense_Mutation_p.E217K NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 282 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) CATAAGGAAGGAGCTGGAGAA 0.527000 10 37 0 0 0.008291 0 0 SPEG 10290 broad.mit.edu 37 2 220350076 220350076 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:220350076G>A ENST00000312358.7 + 31 7750 c.7618G>A c.(7618-7620)Gaa>Aaa p.E2540K AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2540 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) AGCCCCAGGGGAAAGCCGAAG 0.607000 10 80 0 0 0.013537 0 0 NFATC4 4776 broad.mit.edu 37 14 24839583 24839583 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:24839583C>T ENST00000413692.2 + 3 1312 c.1168C>T c.(1168-1170)Cct>Tct p.P390S NFATC4_ENST00000554591.1_Missense_Mutation_p.P390S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P340S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P315S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.P359S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P257S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P327S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P340S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P257S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P327S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P359S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P327S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P257S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P257S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P315S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P315S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P340S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P359S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 327 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGAGAGCATCCCTCAGAAGAC 0.662000 6 27 0 0 0.001984 0 0 SLC34A2 10568 broad.mit.edu 37 4 25673274 25673274 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:25673274C>T ENST00000382051.3 + 9 1029 c.979C>T c.(979-981)Ctc>Ttc p.L327F SLC34A2_ENST00000504570.1_Missense_Mutation_p.L326F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L326F NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 327 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTCCCCTTCCCTCTGTTGGAC 0.502000 T ROS1 NSCLC 14 164 0 0 0.020292 0 0 DNAH10 196385 broad.mit.edu 37 12 124323032 124323032 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:124323032G>A ENST00000409039.3 + 28 4603 c.4578G>A c.(4576-4578)gtG>gtA p.V1526V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1526 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGACCCCGTGATCAAGAGGT 0.547000 4 15 0 0 0.009096 0 0 MECOM 2122 broad.mit.edu 37 3 168833264 168833264 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:168833264C>T ENST00000464456.1 - 7 3032 c.1832G>A c.(1831-1833)gGa>gAa p.G611E MECOM_ENST00000468789.1_Missense_Mutation_p.G611E|MECOM_ENST00000494292.1_Missense_Mutation_p.G799E|MECOM_ENST00000460814.1_Missense_Mutation_p.G611E|MECOM_ENST00000472280.1_Missense_Mutation_p.G612E|MECOM_ENST00000433243.2_Missense_Mutation_p.G612E|MECOM_ENST00000392736.3_Missense_Mutation_p.G611E|MECOM_ENST00000264674.3_Missense_Mutation_p.G676E NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 20 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCCTTTTTTTCCCCCAAACAC 0.502000 9 25 0 0 0.006214 0 0 ROBO1 6091 broad.mit.edu 37 3 78667013 78667013 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:78667013C>T ENST00000436010.2 - 25 4934 c.3937G>A c.(3937-3939)Gag>Aag p.E1313K ROBO1_ENST00000467549.1_Missense_Mutation_p.E1252K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1307K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1352K Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1352 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTGTCTGCTCAAGCCCACGT 0.557000 7 37 0 0 0.008291 0 0 RXFP2 122042 broad.mit.edu 37 13 32366091 32366091 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:32366091G>A ENST00000298386.2 + 15 1365 c.1294G>A c.(1294-1296)Gga>Aga p.G432R RXFP2_ENST00000380314.1_Missense_Mutation_p.G408R NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 432 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TACCTGCTTTGGAAATCTTTT 0.373000 5 41 0 0 0.021553 0 0 PDK1 5163 broad.mit.edu 37 2 173451010 173451010 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:173451010G>A ENST00000410055.1 + 9 1050 c.950G>A c.(949-951)aGt>aAt p.S317N PDK1_ENST00000544863.1_Missense_Mutation_p.S162N|PDK1_ENST00000543905.1_Missense_Mutation_p.S241N|PDK1_ENST00000282077.2_Missense_Mutation_p.S317N|PDK1_ENST00000392571.2_Missense_Mutation_p.S337N NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 317 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) CCTTAGATGAGTGACCGAGGA 0.453000 Autosomal Dominant Polycystic Kidney Disease 4 41 0 0 0.009096 0 0 MYH2 4620 broad.mit.edu 37 17 10447086 10447086 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:10447086G>A ENST00000245503.5 - 8 1067 c.683C>T c.(682-684)cCc>cTc p.P228L MYH2_ENST00000532183.1_Missense_Mutation_p.P228L|MYH2_ENST00000397183.2_Missense_Mutation_p.P228L|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 228 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCCAGTAGGGGGTTGGCACT 0.522000 13 40 0 0 0.016723 0 0 SMG5 23381 broad.mit.edu 37 1 156236056 156236056 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:156236056G>A ENST00000361813.5 - 12 1515 c.1371C>T c.(1369-1371)tcC>tcT p.S457S SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 457 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GGCGGAGACAGGAGAGGCGAG 0.587000 28 98 0 0 0.006320 0 0 DUSP22 56940 broad.mit.edu 37 6 348139 348139 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:348139C>T ENST00000419235.2 + 6 378 c.300C>T c.(298-300)atC>atT p.I100I DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 100 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I100M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CACTGGTGATCGCATACATCA 0.607000 21 152 0 0 0.010504 0 0 ZBTB33 10009 broad.mit.edu 37 X 119389023 119389023 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:119389023C>T ENST00000326624.2 + 2 1981 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C ZBTB33_ENST00000557385.1_Missense_Mutation_p.R585C NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 585 Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAAGCTTTATCGTTTACATCC 0.378000 8 56 0 0 0.006214 0 0 HDHD2 84064 broad.mit.edu 37 18 44656625 44656625 + Nonsense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:44656625G>A ENST00000300605.6 - 4 537 c.385C>T c.(385-387)Caa>Taa p.Q129* HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 129 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 CGGAATGCTTGATTCAGAATT 0.348000 12 54 0 0 0.010729 0 0 PPM1E 22843 broad.mit.edu 37 17 57046946 57046946 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:57046946G>A ENST00000308249.2 + 4 959 c.830G>A c.(829-831)gGa>gAa p.G277E NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 286 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GGCCATGGGGGAGTAGATGCT 0.493000 11 59 0 0 0.010729 0 0 COL4A5 1287 broad.mit.edu 37 X 107939566 107939566 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:107939566G>A ENST00000328300.6 + 53 5278 c.5034G>A c.(5032-5034)agG>agA p.R1678R COL4A5_ENST00000361603.2_Silent_p.R1672R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1672 Collagen IV NC1. C -> W (in APSX).|Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GAGACTTGAGGACACGAATTA 0.338000 Alport syndrome with Diffuse Leiomyomatosis 5 53 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179433796 179433796 + Missense_Mutation SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179433796T>C ENST00000589042.1 - 326 77287 c.77063A>G c.(77062-77064)cAg>cGg p.Q25688R TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16623R|TTN_ENST00000342175.6_Missense_Mutation_p.Q16815R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16748R|TTN_ENST00000342992.6_Missense_Mutation_p.Q23120R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24047R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24047 Ig-like 125. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCAGCAGTCTGGGCAGGAAG 0.433000 19 91 0 0 0.006122 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47611060 47611060 + Missense_Mutation SNP G G A rs149644732 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:47611060G>A ENST00000371917.4 + 22 3046 c.3046G>A c.(3046-3048)Gga>Aga p.G1016R NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1016 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTACCTGTCTGGATCTGGGCG 0.537000 10 41 0 0 0.008291 0 0 DNAJC14 85406 broad.mit.edu 37 12 56215836 56215836 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:56215836C>T ENST00000546837.1 - 6 921 c.922G>A c.(922-924)Gcc>Acc p.A308T DNAJC14_ENST00000317269.3_Silent_p.K678K|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317287.5_Silent_p.K678K|DNAJC14_ENST00000357606.3_Silent_p.K678K TGCTGTTGGGCTTAGAGGCTG 0.547000 16 60 0 0 0.006122 0 0 MIR526B 574468 broad.mit.edu 37 19 54197692 54197692 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:54197692G>A ENST00000384848.1 + 0 46 NR_030190.1 TTGTCTGAAAGAAGAGAAAGT 0.413000 9 39 0 0 0.010729 0 0 GRIA4 2893 broad.mit.edu 37 11 105769117 105769117 + Missense_Mutation SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:105769117T>A ENST00000393127.2 + 7 1295 c.849T>A c.(847-849)gaT>gaA p.D283E GRIA4_ENST00000530497.1_Missense_Mutation_p.D283E|GRIA4_ENST00000282499.5_Missense_Mutation_p.D283E|GRIA4_ENST00000525187.1_Missense_Mutation_p.D283E|GRIA4_ENST00000393125.2_Missense_Mutation_p.D283E|GRIA4_ENST00000428631.2_Missense_Mutation_p.D283E NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 283 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) AGAAACTAGATCAGAGAGAGT 0.343000 6 19 0 0 0.001984 0 0 AEBP1 165 broad.mit.edu 37 7 44151192 44151192 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:44151192C>T ENST00000223357.3 + 15 2108 c.1803C>T c.(1801-1803)gcC>gcT p.A601A AEBP1_ENST00000450684.2_Silent_p.A176A NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 601 Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGATCTATGCCATGGAGATCT 0.617000 5 37 0 0 0.021553 0 0 VHL 7428 broad.mit.edu 37 3 10191497 10191497 + Nonsense_Mutation SNP C C T rs5030819 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:10191497C>T ENST00000256474.2 + 3 1330 c.490C>T c.(490-492)Cag>Tag p.Q164* VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.Q123* NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 164 Interaction with Elongin BC complex. Q -> H (in VHLD).|Q -> R (in VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.Q164*(4)|p.L158fs*6(1)|p.Q164fs*10(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GCGATGCCTCCAGGTTGTCCG 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 3 28 0 0 0.009096 0 0 MOG 4340 broad.mit.edu 37 6 29625034 29625034 + Silent SNP C C T rs111812606 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:29625034C>T ENST00000376894.4 + 1 166 c.48C>T c.(46-48)ttC>ttT p.F16F MOG_ENST00000483013.1_Silent_p.F16F|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Silent_p.F16F|MOG_ENST00000494692.1_Silent_p.F16F|MOG_ENST00000376917.3_Silent_p.F16F|MOG_ENST00000490427.1_Silent_p.F16F|MOG_ENST00000376891.4_Silent_p.F16F|MOG_ENST00000376898.3_Silent_p.F16F|MOG_ENST00000376902.3_Silent_p.F16F|MOG_ENST00000431798.2_Silent_p.F16F|MOG_ENST00000416766.2_Silent_p.F16F|MOG_ENST00000396701.2_Silent_p.F16F|MOG_ENST00000396704.3_Silent_p.F16F|MOG_ENST00000376888.2_Silent_p.F16F Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 16 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCTGCTCCTtcctcctcctcc 0.547000 4 22 0 0 0.009096 0 0 TYW1B 441250 broad.mit.edu 37 7 72193812 72193812 + RNA SNP C C G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:72193812C>G ENST00000438125.1 - 0 783 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TAATCATGTTCTGATGGTTTT 0.418000 8 33 0 0 0.003080 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38673292 38673292 + Nonsense_Mutation SNP A A T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:38673292A>T ENST00000222345.6 + 16 4851 c.4342A>T c.(4342-4344)Aag>Tag p.K1448* NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1448 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTTCTTCTCCAAGCAGCCTGT 0.607000 15 76 0 0 0.020292 0 0 EPN3 55040 broad.mit.edu 37 17 48617661 48617661 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:48617661C>T ENST00000268933.3 + 6 1524 c.945C>T c.(943-945)tcC>tcT p.S315S EPN3_ENST00000541226.1_Intron|EPN3_ENST00000537145.1_Silent_p.S343S NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 315 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCCCGCCCTCCACACACTGCT 0.657000 5 35 0 0 0.001984 0 0 JUP 3728 broad.mit.edu 37 17 39921203 39921203 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:39921203G>A ENST00000393931.3 - 6 1144 c.1026C>T c.(1024-1026)ccC>ccT p.P342P JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.P342P|JUP_ENST00000310706.5_Silent_p.P342P NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 342 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) GCTTATTGCTGGGACACACGG 0.592000 25 80 0 0 0.024334 0 0 BRD8 10902 broad.mit.edu 37 5 137502286 137502286 + Silent SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:137502286T>C ENST00000254900.5 - 10 1289 c.918A>G c.(916-918)caA>caG p.Q306Q BRD8_ENST00000455658.2_Silent_p.Q265Q|BRD8_ENST00000230901.5_Silent_p.Q379Q|BRD8_ENST00000402931.1_Silent_p.Q306Q|BRD8_ENST00000411594.2_Intron NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 306 Q -> H (in Ref. 6; AAB87858). cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAATGGTAGCTTGGGACACAG 0.557000 7 28 0 0 0.004482 0 0 PENK 5179 broad.mit.edu 37 8 57354406 57354406 + Missense_Mutation SNP G G A rs148519224 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:57354406G>A ENST00000314922.3 - 2 305 c.229C>T c.(229-231)Cct>Tct p.P77S PENK_ENST00000451791.2_Missense_Mutation_p.P77S|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 77 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.P77S(1) 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) CCATCTTGAGGAAGCTCTGGT 0.483000 14 87 0 0 0.004990 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864583 102864583 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:102864583C>T ENST00000372628.1 + 3 949 c.591C>T c.(589-591)atC>atT p.I197I TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.I197I|TCEAL3_ENST00000243286.3_Silent_p.I197I Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 TACACGATATCCCATACCTTT 0.527000 7 64 0 0 0.003080 0 0 NANOG 79923 broad.mit.edu 37 12 7945552 7945552 + Missense_Mutation SNP C C T rs71445169 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7945552C>T ENST00000229307.4 + 2 377 c.158C>T c.(157-159)cCt>cTt p.P53L NANOG_ENST00000526286.1_Missense_Mutation_p.P53L NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 53 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) ACAGTCTCTCCTCTTCCTTCC 0.363000 8 75 0 0 0.004482 0 0 VPS13D 55187 broad.mit.edu 37 1 12343435 12343435 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:12343435C>T ENST00000358136.3 + 21 5406 c.5276C>T c.(5275-5277)cCc>cTc p.P1759L VPS13D_ENST00000356315.4_Missense_Mutation_p.P1759L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1759 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGGACTATCCCTTGACCCCA 0.458000 5 35 0 0 0.014758 0 0 ATXN1 6310 broad.mit.edu 37 6 16327065 16327065 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:16327065G>A ENST00000244769.4 - 8 2413 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S ATXN1_ENST00000436367.1_Missense_Mutation_p.P493S NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 493 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CTGCCGACCGGGATGAGCAGG 0.667000 26 148 0 0 0.006320 0 0 CCNB3 85417 broad.mit.edu 37 X 50053595 50053595 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:50053595G>A ENST00000376042.1 + 6 2724 c.2426G>A c.(2425-2427)aGc>aAc p.S809N CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S809N Q8WWL7 CCNB3_HUMAN cyclin B3 809 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GAGGAGCCCAGCATTGAGAAG 0.547000 5 23 0 0 0.014758 0 0 LPAR1 1902 broad.mit.edu 37 9 113704021 113704021 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:113704021C>T ENST00000374431.3 - 4 856 c.473G>A c.(472-474)cGg>cAg p.R158Q LPAR1_ENST00000358883.4_Missense_Mutation_p.R158Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R158Q|LPAR1_ENST00000538760.1_Missense_Mutation_p.R159Q|LPAR1_ENST00000541779.1_Missense_Mutation_p.R159Q NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 158 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GTTGCTCATCCGTGTGTGGAG 0.542000 7 45 0 0 0.001984 0 0 GPR179 440435 broad.mit.edu 37 17 36482780 36482780 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:36482780C>T ENST00000342292.4 - 11 6692 c.6672G>A c.(6670-6672)tgG>tgA p.W2224* GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2224 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGTGATTTCCCATTGGCACA 0.552000 11 65 0 0 0.008291 0 0 GRIA2 2891 broad.mit.edu 37 4 158254097 158254097 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:158254097C>T ENST00000296526.7 + 7 1334 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S GRIA2_ENST00000264426.9_Missense_Mutation_p.P337S|GRIA2_ENST00000393815.2_Missense_Mutation_p.P290S|GRIA2_ENST00000449365.1_Missense_Mutation_p.P290S|GRIA2_ENST00000507898.1_Missense_Mutation_p.P290S NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 337 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCCAGCAGTGCCCTGGGGACA 0.458000 8 41 0 0 0.003080 0 0 SCN2A 6326 broad.mit.edu 37 2 166245390 166245390 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:166245390G>A ENST00000375437.2 + 27 5364 c.5074G>A c.(5074-5076)Gat>Aat p.D1692N SCN2A_ENST00000375427.2_Missense_Mutation_p.D1692N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1692N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1692N NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1692 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGTTGGGATCGATGACATGTT 0.448000 24 149 0 0 0.024334 0 0 MYLK2 85366 broad.mit.edu 37 20 30407947 30407947 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:30407947C>T ENST00000375994.2 + 2 344 c.71C>T c.(70-72)cCc>cTc p.P24L MYLK2_ENST00000375985.4_Missense_Mutation_p.P24L Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 24 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTAAAGGTCCCACAGGTGAA 0.602000 9 35 0 0 0.004482 0 0 RBM47 54502 broad.mit.edu 37 4 40440415 40440415 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:40440415C>T ENST00000319592.4 - 4 1205 c.496G>A c.(496-498)Gaa>Aaa p.E166K RBM47_ENST00000295971.7_Missense_Mutation_p.E166K|RBM47_ENST00000381793.2_Missense_Mutation_p.E166K|RBM47_ENST00000381795.6_Missense_Mutation_p.E166K|RBM47_ENST00000514014.1_Missense_Mutation_p.E128K|RBM47_ENST00000515809.1_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 166 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TCCAGGATTTCCTCGCGCTTC 0.637000 16 45 0 0 0.028581 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173659880 173659880 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:173659880G>A ENST00000264111.6 + 2 380 c.193G>A c.(193-195)Gaa>Aaa p.E65K RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E65K|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E65K Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 65 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TGAGAATCTGGAAAAGGGAAT 0.328000 18 102 0 0 0.010504 0 0 FBXL17 64839 broad.mit.edu 37 5 107197446 107197446 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:107197446G>A ENST00000542267.1 - 9 2487 c.2081C>T c.(2080-2082)cCc>cTc p.P694L FBXL17_ENST00000359660.5_Missense_Mutation_p.P296L NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 694 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AGACATGTTGGGGGTCCAGCC 0.582000 9 33 0 0 0.008291 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77764324C>T ENST00000521891.2 + 10 5615 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 4 52 0 0 0.009096 0 0 ARSF 416 broad.mit.edu 37 X 3030371 3030371 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:3030371C>T ENST00000381127.1 + 11 1768 c.1547C>T c.(1546-1548)tCc>tTc p.S516F ARSF_ENST00000537104.1_Missense_Mutation_p.S516F|ARSF_ENST00000359361.2_Missense_Mutation_p.S516F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 516 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCCTCAGAGTCCACACCCCTG 0.547000 9 75 0 0 0.006214 0 0 PPM1E 22843 broad.mit.edu 37 17 57046945 57046945 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:57046945G>A ENST00000308249.2 + 4 958 c.829G>A c.(829-831)Gga>Aga p.G277R NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 286 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TGGCCATGGGGGAGTAGATGC 0.493000 11 58 0 0 0.010729 0 0 IL2RG 3561 broad.mit.edu 37 X 70328136 70328136 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:70328136C>T ENST00000374202.2 - 7 1006 c.915G>A c.(913-915)ggG>ggA p.G305G IL2RG_ENST00000456850.2_Silent_p.G115G|IL2RG_ENST00000374188.3_Silent_p.G34G NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 305 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) CCGAAAAGTTCCCGTGGTATT 0.537000 Severe Combined Immunodeficiency, X-linked 5 50 0 0 0.001984 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156052 39156052 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:39156052G>A ENST00000391587.1 - 1 86 c.54C>T c.(52-54)acC>acT p.T18T NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 18 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) AGGAGCAGATGGTGGTGGCAG 0.572000 18 49 0 0 0.006122 0 0 OR4K17 390436 broad.mit.edu 37 14 20586336 20586336 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:20586336G>A ENST00000315543.4 + 1 771 c.771G>A c.(769-771)aaG>aaA p.K257K NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TAACCATTAAGAACCACTCTC 0.418000 16 50 0 0 0.004990 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128629 126128629 + Missense_Mutation SNP A A G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:126128629A>G ENST00000299308.3 + 6 1438 c.1430A>G c.(1429-1431)aAc>aGc p.N477S TMEM132B_ENST00000535886.1_5'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 477 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGGTTTCCAACAACTGTGAT 0.448000 8 24 0 0 0.004482 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265660 32265660 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:32265660G>A ENST00000360482.2 - 5 1814 c.1685C>T c.(1684-1686)tCc>tTc p.S562F SPOCD1_ENST00000373648.2_Missense_Mutation_p.S503F|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S562F|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S55F NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 562 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AAGGGCCAGGGAACCGCTTCT 0.632000 7 38 0 0 0.001984 0 0 HPS3 84343 broad.mit.edu 37 3 148858186 148858186 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:148858186G>A ENST00000296051.2 + 2 753 c.613G>A c.(613-615)Gaa>Aaa p.E205K HPS3_ENST00000460120.1_Intron NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 205 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTCAGACTTAGAAGTCTTAAT 0.383000 Hermansky-Pudlak syndrome 13 47 0 0 0.016723 0 0 ANK3 288 broad.mit.edu 37 10 61835986 61835986 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:61835986G>A ENST00000280772.1 - 37 4844 c.4653C>T c.(4651-4653)tcC>tcT p.S1551S ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1551 Ser-rich. 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 CGCCTAATGTGGATTTGATTG 0.423000 24 69 0 0 0.006320 0 0 TAF4B 6875 broad.mit.edu 37 18 23873455 23873455 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:23873455C>T ENST00000269142.5 + 9 2790 c.1792C>T c.(1792-1794)Cag>Tag p.Q598* TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q603*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q598* NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 598 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ATCTCCTACTCAGAAAAATAG 0.274000 4 19 0 0 0.014758 0 0 DLD 1738 broad.mit.edu 37 7 107558469 107558469 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:107558469C>T ENST00000205402.5 + 12 1618 c.1337C>T c.(1336-1338)tCg>tTg p.S446L DLD_ENST00000440410.1_Missense_Mutation_p.S423L|DLD_ENST00000437604.2_Missense_Mutation_p.S398L|DLD_ENST00000537148.1_Missense_Mutation_p.S347L NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 446 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) GGGCAGAAATCGACAGACAGA 0.408000 11 51 0 0 0.008291 0 0 CHID1 66005 broad.mit.edu 37 11 902963 902963 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:902963G>A ENST00000449825.1 - 3 616 c.261_splice c.e3+1 p.P87_splice CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Splice_Site_p.P112_splice|CHID1_ENST00000454838.2_Splice_Site_p.P112_splice|CHID1_ENST00000323578.8_Splice_Site_p.P87_splice|CHID1_ENST00000528581.1_Splice_Site_p.P112_splice|CHID1_ENST00000436108.2_Splice_Site_p.P87_splice|CHID1_ENST00000429789.2_Splice_Site_p.P87_splice|CHID1_ENST00000323541.7_Splice_Site_p.P117_splice NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 87 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCAACTTACTGGAGTGACATA 0.607000 5 16 0 0 0.014758 0 0 CHD4 1108 broad.mit.edu 37 12 6702357 6702357 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:6702357G>A ENST00000309577.6 - 17 2715 c.2552C>T c.(2551-2553)tCc>tTc p.S851F CHD4_ENST00000544484.1_Missense_Mutation_p.S848F|CHD4_ENST00000357008.2_Missense_Mutation_p.S851F|CHD4_ENST00000544040.1_Missense_Mutation_p.S844F Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 851 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CAATTCATAGGATGTCAGCAG 0.468000 6 51 0 0 0.001984 0 0 HLA-E 3133 broad.mit.edu 37 6 30459126 30459126 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:30459126G>A ENST00000376630.4 + 4 888 c.823G>A c.(823-825)Gag>Aag p.E275K NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 275 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 TTCTGGAGAGGAGCAGAGATA 0.617000 11 62 0 0 0.008291 0 0 ABCA13 154664 broad.mit.edu 37 7 48427419 48427419 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:48427419G>A ENST00000435803.1 + 36 11360 c.11335_splice c.e36-1 p.G3779_splice NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3779 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CATTTTTTAGGAACATTTGGT 0.299000 3 8 0 0 0.004672 0 0 HM13 81502 broad.mit.edu 37 20 30132785 30132785 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:30132785C>T ENST00000335574.5 + 4 525 c.401C>T c.(400-402)cCa>cTa p.P134L HM13_ENST00000398174.3_Missense_Mutation_p.P134L|HM13_ENST00000376127.3_Missense_Mutation_p.P134L|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000340852.5_Missense_Mutation_p.P134L NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 134 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GCCAGCTTTCCAAATCGACAG 0.512000 8 51 0 0 0.003080 0 0 COL11A1 1301 broad.mit.edu 37 1 103471395 103471395 + Splice_Site SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:103471395C>T ENST00000358392.2 - 18 2197 c.1881_splice c.e18+1 p.R627_splice COL11A1_ENST00000370096.3_Splice_Site_p.R615_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.R576_splice|COL11A1_ENST00000512756.1_Splice_Site_p.R499_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 615 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTATCTTACCCTGTGACCTTT 0.343000 22 72 0 0 0.018920 0 0 FRMPD3 84443 broad.mit.edu 37 X 106788996 106788996 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:106788996G>A ENST00000276185.4 + 6 426 c.426G>A c.(424-426)gcG>gcA p.A142A FRMPD3_ENST00000477796.1_3'UTR|FRMPD3-AS1_ENST00000415252.1_RNA Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 142 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TCAGTGCTGCGAAGAAGGCCA 0.478000 8 34 0 0 0.006214 0 0 FAM83D 81610 broad.mit.edu 37 20 37581058 37581058 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:37581058G>A ENST00000217429.4 + 4 1784 c.1743G>A c.(1741-1743)agG>agA p.R581R NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 551 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TGCTGTCAAGGAGAACACTCT 0.448000 19 70 0 0 0.008871 0 0 CELA2A 63036 broad.mit.edu 37 1 15789236 15789236 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:15789236G>A ENST00000359621.4 + 4 261 c.236G>A c.(235-237)aGg>aAg p.R79K NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 AGCTCCTCCAGGACCTACCGC 0.617000 18 62 0 0 0.007413 0 0 OBSCN 84033 broad.mit.edu 37 1 228452073 228452073 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:228452073C>T ENST00000570156.2 + 18 5468 c.5394C>T c.(5392-5394)tcC>tcT p.S1798S OBSCN_ENST00000284548.11_Silent_p.S1614S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S1614S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.S270S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 786 Fibronectin type-III 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCGGCTGTCCTTCCACCTGC 0.647000 6 20 0 0 0.021553 0 0 RPL39L 116832 broad.mit.edu 37 3 186839028 186839028 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:186839028G>A ENST00000296277.4 - 3 463 c.61C>T c.(61-63)Cgt>Tgt p.R21C RPL39L_ENST00000433055.1_Missense_Mutation_p.R21C|RPL39L_ENST00000455270.1_Missense_Mutation_p.R21C NM_052969.1 NP_443201.1 Q96EH5 RL39L_HUMAN ribosomal protein L39-like 21 spermatogenesis|translation cytosolic large ribosomal subunit structural constituent of ribosome all_cancers(143;2.61e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.87e-18) GBM - Glioblastoma multiforme(93;0.0745) GGGATGGGACGATTTTGCTTT 0.458000 7 74 0 0 0.001984 0 0 FEZF1 389549 broad.mit.edu 37 7 121943282 121943282 + Silent SNP T T C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:121943282T>C ENST00000442488.2 - 2 952 c.885A>G c.(883-885)aaA>aaG p.K295K FEZF1_ENST00000427185.2_Silent_p.K245K|FEZF1_ENST00000331178.4_Silent_p.K291K NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 295 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCCTGAAACCTTTTCCGCACA 0.468000 4 114 0 0 0.009096 0 0 MTMR4 9110 broad.mit.edu 37 17 56581150 56581150 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:56581150G>A ENST00000323456.5 - 15 1890 c.1766C>T c.(1765-1767)tCc>tTc p.S589F MTMR4_ENST00000579925.1_Missense_Mutation_p.S532F NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 589 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCCACTGGGGAAAGGTAAAG 0.527000 25 82 0 0 0.021523 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135908014 135908014 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:135908014G>A ENST00000264158.8 + 18 2042 c.1999G>A c.(1999-2001)Ggg>Agg p.G667R RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G623R|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G667R|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 667 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) ATCGGCAGAGGGGGCTCACCT 0.493000 11 40 0 0 0.013537 0 0 EWSR1 2130 broad.mit.edu 37 22 29694811 29694811 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:29694811C>T ENST00000397938.2 + 14 1825 c.1506C>T c.(1504-1506)ccC>ccT p.P502P EWSR1_ENST00000332035.6_Silent_p.P446P|EWSR1_ENST00000332050.6_Silent_p.P429P|EWSR1_ENST00000406548.1_Silent_p.P501P|EWSR1_ENST00000331029.7_Silent_p.P464P|EWSR1_ENST00000414183.2_Silent_p.P507P NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 502 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAAGAGGACCCCGGGGTTCCC 0.602000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 13 97 0 0 0.024245 0 0 GJB2 2706 broad.mit.edu 37 13 20763697 20763697 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:20763697C>T ENST00000382844.1 - 1 222 c.24G>A c.(22-24)acG>acA p.T8T GJB2_ENST00000382848.4_Silent_p.T8T P29033 CXB2_HUMAN gap junction protein, beta 2, 26kDa 8 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) CCCCCAGGATCGTCTGCAGCG 0.512000 Keratitis, Ichthyosis and Deafness syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 52 0 0 0.020292 0 0 KCNH4 23415 broad.mit.edu 37 17 40327750 40327750 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:40327750G>A ENST00000264661.3 - 6 1166 c.834C>T c.(832-834)atC>atT p.I278I KCNH4_ENST00000607371.1_Silent_p.I278I NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 278 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTTCAGGATGATATCTGGGG 0.562000 9 100 0 0 0.004482 0 0 ZIM3 114026 broad.mit.edu 37 19 57646858 57646858 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:57646858C>T ENST00000269834.1 - 5 1232 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCTCACATTCATTACACTGA 0.383000 19 86 0 0 0.008871 0 0 ARR3 407 broad.mit.edu 37 X 69489979 69489979 + Missense_Mutation SNP T T A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:69489979T>A ENST00000374495.3 + 5 228 c.130T>A c.(130-132)Tta>Ata p.L44I ARR3_ENST00000307959.8_Missense_Mutation_p.L44I P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 44 L -> F (in dbSNP:rs17855428). signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 TCCTGAGTACTTAAAATGTCG 0.438000 9 62 0 0 0.006214 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664277 169664277 + RNA SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:169664277G>A ENST00000483289.2 - 0 3017 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 TGTTGCACAGGATCTTGTTGT 0.517000 12 37 0 0 0.013537 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948129 119948129 + Missense_Mutation SNP C C G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:119948129C>G ENST00000307142.4 + 3 801 c.605C>G c.(604-606)tCc>tGc p.S202C SYNPO2_ENST00000429713.2_Missense_Mutation_p.S202C|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S202C|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 202 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTGCAACTGTCCCTTTCACAG 0.537000 5 22 0 0 0.014758 0 0 TPTE 7179 broad.mit.edu 37 21 10942744 10942744 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr21:10942744C>T ENST00000298232.7 - 12 1010 c.643G>A c.(643-645)Gat>Aat p.D215N TPTE_ENST00000342420.5_Missense_Mutation_p.D195N|TPTE_ENST00000361285.4_Missense_Mutation_p.D233N|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 233 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D215N(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TCAAATCCATCCCTTGTGTAT 0.308000 20 293 0 0 0.021523 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26872468 26872468 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:26872468G>A ENST00000531382.1 + 1 126 c.77G>A c.(76-78)aGg>aAg p.R26K RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374162.2_Intron NM_001006665.1 NP_001006666.1 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 21 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CAGCGGCCCAGGATCAGCCAG 0.697000 3 6 0 0 0.004672 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54922055 54922055 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:54922055G>A ENST00000293373.6 + 22 2479 c.2400G>A c.(2398-2400)caG>caA p.Q800Q NCKAP1L_ENST00000545638.2_Silent_p.Q750Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 800 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGCTTAGACAGGCAAGCAGTG 0.532000 50 107 0 0 0.014410 0 0 FLNC 2318 broad.mit.edu 37 7 128480100 128480100 + Missense_Mutation SNP G G C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:128480100G>C ENST00000325888.8 + 9 1696 c.1435G>C c.(1435-1437)Gcc>Ccc p.A479P FLNC_ENST00000346177.6_Missense_Mutation_p.A479P NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 479 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGCCTGCCGCGCCTCTGGGCG 0.642000 28 116 0 0 0.013726 0 0 NLRP8 126205 broad.mit.edu 37 19 56473543 56473543 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:56473543C>T ENST00000291971.3 + 4 2224 c.2153C>T c.(2152-2154)cCt>cTt p.P718L NLRP8_ENST00000590542.1_Missense_Mutation_p.P718L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 718 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGGGCCTCCTTTTTTGAAG 0.488000 14 58 0 0 0.020292 0 0 STRA6 64220 broad.mit.edu 37 15 74481525 74481525 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:74481525C>T ENST00000323940.5 - 12 1266 c.1021G>A c.(1021-1023)Gga>Aga p.G341R STRA6_ENST00000535552.1_Missense_Mutation_p.G378R|STRA6_ENST00000574278.1_Missense_Mutation_p.G356R|STRA6_ENST00000449139.2_Missense_Mutation_p.G341R|STRA6_ENST00000416286.3_Missense_Mutation_p.G333R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G332R|STRA6_ENST00000395105.4_Missense_Mutation_p.G341R|STRA6_ENST00000563965.1_Missense_Mutation_p.G380R NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 341 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 AGCACGATTCCAAAGCCGGCC 0.642000 6 16 0 0 0.021553 0 0 OR2K2 26248 broad.mit.edu 37 9 114090033 114090033 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:114090033G>A ENST00000374428.1 - 1 767 c.768C>T c.(766-768)atC>atT p.I256I OR2K2_ENST00000302681.1_Silent_p.I227I Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 CTGCTGAGGTGATTCTCAGAA 0.448000 6 19 0 0 0.001984 0 0 ZNF560 147741 broad.mit.edu 37 19 9578257 9578257 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:9578257C>T ENST00000301480.4 - 10 1579 c.1366G>A c.(1366-1368)Gga>Aga p.G456R NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGCTTCTCTCCATTATGAACT 0.398000 33 174 0 0 0.017118 0 0 NLRP3 114548 broad.mit.edu 37 1 247588534 247588534 + Missense_Mutation SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:247588534A>C ENST00000366497.2 + 4 2569 c.1789A>C c.(1789-1791)Agt>Cgt p.S597R NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.S597R|NLRP3_ENST00000348069.2_Missense_Mutation_p.S597R|NLRP3_ENST00000366496.2_Missense_Mutation_p.S597R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S597R|NLRP3_ENST00000391828.3_Missense_Mutation_p.S597R NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 597 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAGAAATTAAGTTGCAAGAT 0.438000 16 36 0 0 0.006122 0 0 TSGA10 80705 broad.mit.edu 37 2 99725886 99725886 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:99725886G>A ENST00000393483.3 - 6 861 c.17C>T c.(16-18)tCt>tTt p.S6F TSGA10_ENST00000539964.1_Missense_Mutation_p.S6F|TSGA10_ENST00000542655.1_Missense_Mutation_p.S6F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S6F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S6F|TSGA10_ENST00000478090.1_5'UTR NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 6 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TGGACTTTTAGACCTACTTCG 0.398000 12 41 0 0 0.016723 0 0 RAC1 5879 broad.mit.edu 37 7 6441629 6441629 + Missense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:6441629C>T ENST00000348035.4 + 5 632 c.419C>T c.(418-420)cCg>cTg p.P140L RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P159L NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 140 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) ATCACCTATCCGCAGGGTCTA 0.458000 18 93 0 0 0.014323 0 0 TBCE 6905 broad.mit.edu 37 1 235577778 235577778 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:235577778G>A ENST00000543662.1 + 4 322 c.216G>A c.(214-216)ccG>ccA p.P72P TBCE_ENST00000366601.3_Silent_p.P72P|TBCE_ENST00000406207.1_Silent_p.P72P|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 72 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TTATTCGTCCGAACAAGGTAA 0.383000 7 62 0 0 0.004482 0 0 TOMM40 10452 broad.mit.edu 37 19 45406309 45406309 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:45406309C>T ENST00000426677.2 + 9 1149 c.969C>T c.(967-969)atC>atT p.I323I TOMM40_ENST00000252487.5_Silent_p.I323I|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.I323I NM_001128917.1 NP_001122389.1 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 323 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) GCAACTGGATCGTGGGTGCCA 0.587000 25 86 0 0 0.024334 0 0 HSPH1 10808 broad.mit.edu 37 13 31715323 31715323 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:31715323G>A ENST00000320027.5 - 13 2134 c.1790C>T c.(1789-1791)cCt>cTt p.P597L HSPH1_ENST00000445273.2_Missense_Mutation_p.P599L|HSPH1_ENST00000380405.4_Missense_Mutation_p.P553L|HSPH1_ENST00000380406.5_Missense_Mutation_p.P556L|HSPH1_ENST00000429785.2_Missense_Mutation_p.P416L NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 597 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTTCAATAGGCAGCTCAAC 0.353000 12 46 0 0 0.013537 0 0 RYR3 6263 broad.mit.edu 37 15 33961554 33961554 + Splice_Site SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:33961554G>A ENST00000389232.4 + 37 5689 c.e37-1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCTCTCAAAGATCAACATGC 0.448000 9 33 0 0 0.004482 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777288 6777288 + RNA SNP A A C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:6777288A>C ENST00000486256.1 + 0 1415 NR_002217.1 ATCCCCAAACACAAAAGTGTT 0.393000 8 49 0 0 0.003080 0 0 CDH6 1004 broad.mit.edu 37 5 31305281 31305281 + Splice_Site SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:31305281C>T ENST00000265071.2 + 7 1265 c.999_splice c.e7-1 p.L334_splice CDH6_ENST00000514738.1_Splice_Site_p.L279_splice NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAACCTCAAGCTCTTGGACTT 0.423000 19 52 0 0 0.008871 0 0 RP11-206L10.10 0 broad.mit.edu 37 1 745643 745643 + RNA DEL C C - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:745643delC ENST00000435300.1 - 0 340 TTCAAAGTGACAGACTGTGGG 0.299 4 3 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195452664 195452664 + Frame_Shift_Del DEL C C - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:195452664delC ENST00000320736.6 + 3 803 c.677delC c.(676-678)acfs p.T226fs MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 397 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCAGTCATCACCCCCTCATGG 0.587 5 1 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 6 10 --- --- --- --- KMT2E 55904 broad.mit.edu 37 7 104753026 104753027 + Frame_Shift_Ins INS - - T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:104753026_104753027insT ENST00000334877.4 + 26 5231_5232 c.4697_4698insT c.(4696-4698)cttfs p.L1566fs KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.L1608fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.L1608fs|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E ACTCCAGGGCATTTTTTGCCCT 0.535 26 100 --- --- --- --- DIP2C 22982 broad.mit.edu 37 10 415480 415482 + In_Frame_Del DEL CTT CTT - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:415480_415482delCTT ENST00000280886.6 - 18 2170_2172 c.2083_2085delAAG c.(2083-2085)del p.K695del DIP2C_ENST00000540204.1_In_Frame_Del_p.K16del|DIP2C_ENST00000381496.3_In_Frame_Del_p.K588del NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 695 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCACGGACAGCTTCTCTTCCGAG 0.562 12 53 --- --- --- --- DHRS2 10202 broad.mit.edu 37 14 24112393 24112400 + Frame_Shift_Del DEL GCTGCTGA GCTGCTGA - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:24112393_24112400delGCTGCTGA ENST00000250383.6 + 5 929_936 c.453_460delGCTGCTGA c.(451-462)ctgcfs p.LLLS151fs DHRS2_ENST00000344777.7_Frame_Shift_Del_p.LLLS151fs NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 129 I -> V (in Ref. 3; BAD96577). C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CCCCAGCCCTGCTGCTGAGCCAGTTGCT 0.577 22 143 --- --- --- --- IGHV4-31 28396 broad.mit.edu 37 14 106805656 106805656 + RNA DEL G G - rs112628447 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:106805656delG ENST00000438142.2 - 0 60 TTCTTGCACAGGAGGTCCAGG 0.502 5 7 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 9 8 --- --- --- ---