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 PPM1L 151742 broad.mit.edu 37 3 160786652 160786652 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:160786652T>G ENST00000498165.1 + 4 891 c.790T>G c.(790-792)Tct>Gct p.S264A PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.S137A|PPM1L_ENST00000464260.1_Missense_Mutation_p.S85A NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 264 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CCTGGCCATGTCTCGGTCCCT 0.512000 16 114 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134006320 134006320 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:134006320C>T ENST00000338492.4 + 3 451 c.287C>T c.(286-288)gCg>gTg p.A96V DPYSL4_ENST00000368629.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000493882.1_3'UTR NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 96 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ACCAAGGCAGCGCTAGCAGGA 0.617000 11 80 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138782 126138782 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:126138782G>A ENST00000299308.3 + 9 2771 c.2763G>A c.(2761-2763)gcG>gcA p.A921A TMEM132B_ENST00000535886.1_Silent_p.A433A NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 921 integral to membrane p.A921A(1) 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) ACTGCGTGGCGTTTGCCTGGA 0.522000 31 111 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86887360 86887360 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:86887360C>G ENST00000373119.4 + 7 1620 c.1475C>G c.(1474-1476)aCa>aGa p.T492R KLHL4_ENST00000373114.4_Missense_Mutation_p.T492R NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 492 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ACTTTGAATACAGTGGAATGT 0.418000 35 14 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76714147 76714147 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:76714147A>G ENST00000264917.5 + 18 2050 c.2005A>G c.(2005-2007)Aat>Gat p.N669D PDE8B_ENST00000333194.4_Missense_Mutation_p.N614D|PDE8B_ENST00000505283.1_Missense_Mutation_p.N134D|PDE8B_ENST00000340978.3_Missense_Mutation_p.N622D|PDE8B_ENST00000346042.3_Missense_Mutation_p.N572D|PDE8B_ENST00000342343.4_Missense_Mutation_p.N649D NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 669 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TTTCCTCTGCAATGCAGGCAG 0.567000 21 45 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423919 190423919 + Silent SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:190423919A>T ENST00000367462.3 - 2 333 c.102T>A c.(100-102)gcT>gcA p.A34A FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 34 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GATCCGAAACAGCAGCAACCG 0.512000 14 46 0 0 1 0 0 SPRY1 10252 broad.mit.edu 37 4 124322817 124322817 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:124322817G>A ENST00000394339.2 + 2 411 c.71G>A c.(70-72)cGt>cAt p.R24H SPRY1_ENST00000339241.1_Missense_Mutation_p.R24H NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 24 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 TTGGATAGCCGTCAGAGATTA 0.463000 5 218 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135922 32135922 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:32135922C>T ENST00000312561.4 + 4 2447 c.2033C>T c.(2032-2034)tCc>tTc p.S678F KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 ACCTGTCTTTCCCTGTGGAAA 0.423000 15 48 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46976878 46976878 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:46976878C>G ENST00000371253.2 - 11 2508 c.2293G>C c.(2293-2295)Gtt>Ctt p.V765L GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V568L NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 765 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTTGTGAGAACTAGCAGCACC 0.542000 21 36 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94690472 94690472 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:94690472C>T ENST00000282020.4 + 15 2730 c.2472C>T c.(2470-2472)ggC>ggT p.G824G GRID2_ENST00000510992.1_Silent_p.G729G NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 824 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGAAAGGAGGCGCCCTGGACA 0.512000 11 70 0 0 1 0 0 PINX1 54984 broad.mit.edu 37 8 10623050 10623050 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:10623050G>A ENST00000314787.3 - 7 967 c.848C>T c.(847-849)cCg>cTg p.P283L PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron NM_017884.4 NP_060354.4 PIN2/TERF1 interacting, telomerase inhibitor 1 kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) GCCCTCAGGCGGCTGCACATG 0.572000 6 27 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53621287 53621287 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:53621287C>A ENST00000425354.2 - 3 530 c.43G>T c.(43-45)Ggg>Tgg p.G15W RARG_ENST00000394426.1_Missense_Mutation_p.G15W|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 15 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GATCCAGGCCCCAGGGCACCA 0.667000 7 18 0.27861 0.27861 1 1 0 HIST1H3I 8354 broad.mit.edu 37 6 27839778 27839778 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:27839778C>T ENST00000328488.2 - 1 321 c.316G>A c.(316-318)Gag>Aag p.E106K NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TTGGTATCCTCAAATAGCCCC 0.572000 45 90 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628328 51628328 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:51628328G>A ENST00000440804.3 + 1 164 c.97G>A c.(97-99)Gaa>Aaa p.E33K SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E33K NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 33 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GACGGTGCAGGAAGGCCTGTG 0.607000 26 40 0 0 1 0 0 ATP5A1 498 broad.mit.edu 37 18 43664472 43664472 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr18:43664472G>C ENST00000593152.2 - 11 1967 c.1428C>G c.(1426-1428)atC>atG p.I476M ATP5A1_ENST00000398752.6_Missense_Mutation_p.I526M|ATP5A1_ENST00000282050.2_Missense_Mutation_p.I526M|ATP5A1_ENST00000590665.1_Missense_Mutation_p.I504M NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 526 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 ATTCATACCTGATAGTGCCCA 0.358000 14 51 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874749 48874749 + Silent SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:48874749C>G ENST00000262105.2 + 3 581 c.372C>G c.(370-372)ggC>ggG p.G124G MCM4_ENST00000523944.1_Silent_p.G124G NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 124 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CACAGAAGGGCCTGCAAGTGG 0.547000 17 48 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49094970 49094970 + Silent SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:49094970G>C ENST00000323090.4 + 3 858 c.483G>C c.(481-483)ctG>ctC p.L161L SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Silent_p.L176L NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 176 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) ACCAGTTCCTGAGGGACTTCC 0.632000 3 17 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56206141 56206141 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:56206141G>A ENST00000411543.2 + 10 2119 c.1572G>A c.(1570-1572)gcG>gcA p.A524A EPN1_ENST00000085079.7_Silent_p.A412A|EPN1_ENST00000270460.6_Silent_p.A438A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 438 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GCCCTGGGGCGTTTGACATGA 0.687000 7 28 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588477 247588477 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:247588477C>T ENST00000366497.2 + 4 2512 c.1732C>T c.(1732-1734)Cgt>Tgt p.R578C NLRP3_ENST00000348069.2_Missense_Mutation_p.R578C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R578C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R578C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R578C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R578C|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 578 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) TTTTGTTGTACGTTTCCTCTT 0.463000 21 79 0 0 1 0 0 OGFRL1 79627 broad.mit.edu 37 6 72006455 72006455 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:72006455G>A ENST00000370435.4 + 6 761 c.627G>A c.(625-627)ctG>ctA p.L209L RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 209 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 GAATAAAACTGACTGATAAAA 0.348000 30 45 0 0 1 0 0 TOLLIP 54472 broad.mit.edu 37 11 1298422 1298422 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:1298422G>A ENST00000527886.1 - 6 845 c.465C>T c.(463-465)aaC>aaT p.N155N TOLLIP_ENST00000263646.7_Silent_p.N196N|TOLLIP_ENST00000317204.6_Silent_p.N224N|TOLLIP_ENST00000542915.1_Silent_p.N174N|TOLLIP_ENST00000525159.1_Silent_p.N163N|TOLLIP_ENST00000527938.1_3'UTR Q9H0E2 TOLIP_HUMAN toll interacting protein 224 cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) GGGGCTGGGCGTTCACGGCGG 0.632000 23 47 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41174333 41174333 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:41174333C>G ENST00000355653.3 - 1 102 c.7G>C c.(7-9)Gac>Cac p.D3H VAT1_ENST00000587173.1_Missense_Mutation_p.D3H NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 3 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) TCTCTCTCGTCGGACATGGCT 0.692000 34 10 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67815027 67815027 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:67815027C>T ENST00000265686.3 + 11 1401 c.1293C>T c.(1291-1293)gcC>gcT p.A431A TCIRG1_ENST00000532635.1_Silent_p.A215A NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 431 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CTGTGAAGGCCGCGCAGAACG 0.652000 19 37 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184073265 184073265 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:184073265C>T ENST00000265593.4 - 12 1394 c.1223G>A c.(1222-1224)cGc>cAc p.R408H CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 408 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CAGGCCCTGGCGGACCCACGT 0.587000 25 161 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30544131 30544131 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:30544131G>A ENST00000535210.1 - 3 854 c.682C>T c.(682-684)Cgg>Tgg p.R228W ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.R228W|ZNF747_ENST00000569360.1_Missense_Mutation_p.R228W Q9BV97 ZN747_HUMAN zinc finger protein 747 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 TGGATGGCCCGGTGTTTGCTC 0.662000 8 9 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133835 55133835 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:55133835C>A ENST00000257290.5 + 7 1379 c.1048C>A c.(1048-1050)Ctg>Atg p.L350M FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 350 Ig-like C2-type 4. 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 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) GATATCCTGGCTGAAAAACAA 0.448000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 18 62 2.35188e-11 2.64052e-11 1 1 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261901 23261901 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:23261901G>T ENST00000450802.3 + 12 1111 c.1013G>T c.(1012-1014)gGa>gTa p.G338V CTGAACCGGGGACAAGAAGAG 0.572000 23 44 2.21704e-12 2.52354e-12 1 1 0 AKAP7 9465 broad.mit.edu 37 6 131540889 131540889 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:131540889C>T ENST00000431975.2 + 7 889 c.791C>T c.(790-792)tCc>tTc p.S264F AKAP7_ENST00000541650.1_Missense_Mutation_p.S263F|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.S242F NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) GATCTTTGCTCCATGCTGAAG 0.274000 16 51 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19232091 19232091 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:19232091C>T ENST00000314728.5 + 8 1699 c.1215C>T c.(1213-1215)ccC>ccT p.P405P EPN2_ENST00000395620.2_Silent_p.P348P|EPN2_ENST00000347697.2_Silent_p.P348P|EPN2_ENST00000395618.3_Silent_p.P120P|EPN2_ENST00000571254.1_Silent_p.P341P|EPN2_ENST00000395626.1_Silent_p.P405P|EPN2_ENST00000575595.1_Silent_p.P113P NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 405 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AATCTGTCCCCAAGAACTCGG 0.622000 49 33 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160309984 160309984 + Silent SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:160309984A>G ENST00000241704.7 - 2 370 c.141T>C c.(139-141)ttT>ttC p.F47F COPA_ENST00000368069.3_Silent_p.F47F NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 47 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATGTTCATCAAACTTGTCAA 0.403000 19 84 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481992 38481992 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:38481992C>T ENST00000263409.4 - 20 3161 c.2999G>A c.(2998-3000)gGc>gAc p.G1000D LIFR_ENST00000453190.2_Missense_Mutation_p.G1000D NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1000 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGGCTTATAGCCTGCCCCTCC 0.458000 T PLAG1 salivary adenoma 4 95 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807583 22807583 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr18:22807583C>T ENST00000361524.3 - 4 447 c.299G>A c.(298-300)aGc>aAc p.S100N ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S100N|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 100 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTCTCCATGGCTAGGGGAAGT 0.507000 T PAX5 ALL 19 55 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69684939 69684939 + Silent SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:69684939T>C ENST00000395198.3 - 25 3115 c.2868A>G c.(2866-2868)acA>acG p.T956T HERC4_ENST00000412272.2_Silent_p.T878T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.T948T|HERC4_ENST00000277817.6_Silent_p.T846T NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 956 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 CTTTGTATTCTGTATTCTAAA 0.328000 22 48 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135291531 135291531 + Missense_Mutation SNP C C T rs112867264 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:135291531C>T ENST00000285968.6 + 21 2964 c.2938C>T c.(2938-2940)Cgt>Tgt p.R980C NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 980 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGTTGCAATTCGTCATGAAAC 0.333000 4 109 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885472 88885472 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:88885472C>T ENST00000319675.3 - 1 824 c.728G>A c.(727-729)tGt>tAt p.C243Y NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 243 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CCCAGAGCGACAGCCATTAAA 0.522000 84 97 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562941 140562941 + Silent SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:140562941A>G ENST00000361016.2 + 1 1962 c.807A>G c.(805-807)ttA>ttG p.L269L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 269 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGGGATTTAGACGGCGGAG 0.483000 4 103 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102502959 102502959 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr14:102502959G>A ENST00000360184.4 + 57 11052 c.10888G>A c.(10888-10890)Ggt>Agt p.G3630S RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3630 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACTGAGATTCGGTAACCCCCT 0.438000 40 88 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169506008 169506008 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:169506008C>T ENST00000256935.8 + 49 5104 c.5024C>T c.(5023-5025)aCg>aTg p.T1675M DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1675 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCACCCAAGACGCCGAGAGTG 0.557000 18 91 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607770 21607770 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:21607770A>G ENST00000392288.2 + 4 2418 c.2309A>G c.(2308-2310)gAg>gGg p.E770G CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.E642G NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CATACTGAAGAGACTGTACAA 0.388000 11 89 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61665982 61665982 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:61665982C>A ENST00000263102.6 - 1 432 c.201G>T c.(199-201)caG>caT p.Q67H NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 67 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) TGTTCTCTTGCTGCAGCGAGG 0.647000 T RET NSCLC 40 96 1.02687e-29 1.21357e-29 1 1 0 ANKS1B 56899 broad.mit.edu 37 12 99640465 99640465 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:99640465G>T ENST00000547776.2 - 13 1933 c.1934C>A c.(1933-1935)cCt>cAt p.P645H ANKS1B_ENST00000547010.1_Missense_Mutation_p.P225H|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P645H NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 645 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAAAGGCAAAGGACTGTTTGC 0.383000 21 51 6.33239e-15 7.27488e-15 1 1 0 BOC 91653 broad.mit.edu 37 3 112991400 112991400 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:112991400G>A ENST00000495514.1 + 7 1515 c.811G>A c.(811-813)Gtc>Atc p.V271I BOC_ENST00000355385.3_Missense_Mutation_p.V271I|BOC_ENST00000273395.4_Missense_Mutation_p.V271I Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 271 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TGGGTCCAGTGTCACCGGCTA 0.602000 97 248 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296329 39296329 + Silent SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:39296329T>G ENST00000345847.4 - 1 410 c.411A>C c.(409-411)ccA>ccC p.P137P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 133 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ggcagcagGTTGGCTGGCAGC 0.682000 4 31 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367299 107367299 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr9:107367299T>C ENST00000542196.1 - 1 652 c.610A>G c.(610-612)Aca>Gca p.T204A NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 204 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 ATGAACAATGTTGTGGCCACA 0.398000 5 202 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76170975 76170975 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:76170975G>A ENST00000588734.1 - 6 907 c.669C>T c.(667-669)ttC>ttT p.F223F TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Silent_p.F190F|TK1_ENST00000590862.1_Intron|TK1_ENST00000301634.7_Silent_p.F190F P04183 KITH_HUMAN thymidine kinase 1, soluble 190 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) AGGCCTTCTTGAAGTAGCAGA 0.632000 19 13 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983223 97983223 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:97983223G>A ENST00000383696.2 + 1 136 c.95G>A c.(94-96)gGa>gAa p.G32E 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) 32 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 GTTCTCACAGGATTTTTACAT 0.398000 219 215 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172486831 172486831 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:172486831C>T ENST00000417960.1 + 13 1707 c.1230C>T c.(1228-1230)agC>agT p.S410S ECT2_ENST00000232458.5_Silent_p.S411S|ECT2_ENST00000540509.1_Silent_p.S442S|ECT2_ENST00000441497.2_Silent_p.S411S|ECT2_ENST00000427830.1_Silent_p.S411S|ECT2_ENST00000392692.3_Silent_p.S442S NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 411 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CTTCTAAAAGCTCCACTCCAG 0.348000 42 89 0 0 1 0 0 NFU1 27247 broad.mit.edu 37 2 69627580 69627580 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:69627580G>A ENST00000410022.2 - 7 841 c.636C>T c.(634-636)agC>agT p.S212S NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Silent_p.S71S|NFU1_ENST00000303698.3_Silent_p.S188S|NFU1_ENST00000462320.1_Silent_p.S71S NM_001002755.2 NP_001002755.1 Q9UMS0 NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 212 NifU. iron-sulfur cluster assembly cytosol|mitochondrion|nucleus 4 iron, 4 sulfur cluster binding|iron ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 7 AACTAGGGCAGCTGGTACAAG 0.438000 57 206 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175348837 175348837 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:175348837C>T ENST00000367674.1 - 9 2522 c.1814G>A c.(1813-1815)cGc>cAc p.R605H TNR_ENST00000263525.2_Missense_Mutation_p.R605H NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 605 Fibronectin type-III 4. 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) GGTTGCTGTGCGAGAACCAAC 0.478000 19 57 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155764443 155764443 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:155764443G>A ENST00000159060.2 - 5 552 c.450C>T c.(448-450)aaC>aaT p.N150N NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 150 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GGTAGCTCTCGTTAGGGGTGT 0.562000 9 39 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240984708 240984708 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:240984708C>A ENST00000319423.4 - 1 781 c.782G>T c.(781-783)cGg>cTg p.R261L NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GGCCTGGGGCCGGACATACAT 0.542000 42 61 4.00102e-26 4.70596e-26 1 1 0 TRAFD1 10906 broad.mit.edu 37 12 112578678 112578678 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:112578678C>T ENST00000257604.5 + 5 910 c.293C>T c.(292-294)tCc>tTc p.S98F TRAFD1_ENST00000412615.2_Missense_Mutation_p.S98F NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 98 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TTAGAACTTTCCATTCTCAAA 0.458000 32 120 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15599512 15599512 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr21:15599512G>C ENST00000400577.3 + 5 753 c.744G>C c.(742-744)aaG>aaC p.K248N RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 248 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) ATAAACGAAAGAGACAAAAGC 0.403000 48 203 0 0 1 0 0 KRTAP4-1 85285 broad.mit.edu 37 17 39341000 39341000 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:39341000C>A ENST00000398472.1 - 1 594 c.107G>T c.(106-108)tGc>tTc p.C36F Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 36 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCTGGGGCAGCAACAGGT 0.617000 15 46 6.72482e-11 7.41532e-11 1 1 0 SI 6476 broad.mit.edu 37 3 164737395 164737395 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:164737395G>A ENST00000264382.3 - 28 3480 c.3418C>T c.(3418-3420)Cct>Tct p.P1140S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1140 Sucrase. 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) CCTACACCAGGGGGTTGGTCT 0.443000 HNSCC(35;0.089) 30 97 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473414 2473414 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:2473414G>T ENST00000258711.6 + 2 1275 c.1140G>T c.(1138-1140)tgG>tgT p.W380C NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 380 W -> C (in Ref. 1; AAF81692). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) AGGAGGACTGGTTCGCCAAGA 0.642000 31 16 1.16021e-09 1.2514e-09 1 1 0 UBR2 23304 broad.mit.edu 37 6 42600362 42600362 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:42600362C>G ENST00000372899.1 + 12 1612 c.1354C>G c.(1354-1356)Cga>Gga p.R452G UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.R452G NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 452 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTTGAGACATCGAGATGCCCA 0.363000 19 43 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70539521 70539521 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:70539521A>G ENST00000260128.4 + 16 2644 c.1927A>G c.(1927-1929)Aag>Gag p.K643E SULF1_ENST00000458141.2_Missense_Mutation_p.K643E|SULF1_ENST00000419716.3_Missense_Mutation_p.K643E|SULF1_ENST00000402687.4_Missense_Mutation_p.K643E|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 643 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) GAAGGACCATAAGGCATACAT 0.463000 15 29 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240550 21240550 + Missense_Mutation SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:21240550A>T ENST00000261560.5 + 5 1617 c.1436A>T c.(1435-1437)cAt>cTt p.H479L NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 AAGGTAATTCATTCTGGAGAG 0.368000 28 76 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95669937 95669937 + Silent SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr14:95669937A>G ENST00000298912.4 - 9 1862 c.1749T>C c.(1747-1749)gtT>gtC p.V583V NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 583 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GAGGTGAAGGAACTTTGTTGA 0.398000 45 100 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89804494 89804494 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:89804494G>A ENST00000289816.5 + 11 1772 c.1460G>A c.(1459-1461)cGg>cAg p.R487Q FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.R562Q|ZNF276_ENST00000446326.2_Missense_Mutation_p.R348Q|ZNF276_ENST00000568064.1_3'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TGTGGCCGGCGGTTTGAGAAG 0.597000 18 22 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96803345 96803345 + Silent SNP G G A rs142516442 byFrequency TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:96803345G>A ENST00000342380.2 - 2 149 c.150C>T c.(148-150)tcC>tcT p.S50S NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 50 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCTTGTCCCCGGAGGCCTGGG 0.602000 60 102 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529452 113529452 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:113529452A>G ENST00000297405.5 - 28 4811 c.4567T>C c.(4567-4569)Tct>Cct p.S1523P CSMD3_ENST00000455883.2_Missense_Mutation_p.S1419P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1483P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1523P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1523 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGGCAACAGAACCTATCAAA 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 68 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135865147 135865147 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr9:135865147C>T ENST00000339463.3 + 10 1486 c.667C>T c.(667-669)Cgc>Tgc p.R223C GFI1B_ENST00000372124.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223C|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177C|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177C Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 223 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.R223F(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CTTCGAGTGCCGCATGTGCGG 0.682000 5 39 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132092430 132092430 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:132092430G>A ENST00000370836.2 - 2 616 c.201C>T c.(199-201)ctC>ctT p.L67L HS6ST2_ENST00000521489.1_Silent_p.L67L NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 67 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GCTTGTCCAGGAGCGGCCGGG 0.721000 3 11 0 0 1 0 0 DLX1 1745 broad.mit.edu 37 2 172950420 172950420 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:172950420C>T ENST00000361725.4 + 1 467 c.15C>T c.(13-15)acC>acT p.T5T DLX1_ENST00000341900.6_Silent_p.T5T NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 5 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCATGACCACCATGCCAGAAA 0.572000 4 78 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72290045 72290045 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:72290045C>T ENST00000334456.5 - 28 2610 c.2365G>A c.(2365-2367)Gac>Aac p.D789N PDE2A_ENST00000444035.2_Missense_Mutation_p.D780N|PDE2A_ENST00000418754.2_Missense_Mutation_p.D674N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D533N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D780N|PDE2A_ENST00000544570.1_Missense_Mutation_p.D782N NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 789 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TTGTTTCGGTCGTAGCCCACT 0.597000 9 18 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328721 3328721 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:3328721G>T ENST00000378398.3 + 10 2045 c.1963G>T c.(1963-1965)Gcg>Tcg p.A655S PRDM16_ENST00000511072.1_Missense_Mutation_p.A655S|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654S|PRDM16_ENST00000514189.1_Missense_Mutation_p.A655S|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654S|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654S|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654S|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 654 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGGCGGCTTGGCGCCCCCGGG 0.682000 T EVI1 """MDS, AML""" 19 45 0.00074312 0.000764795 1 1 0 FBN1 2200 broad.mit.edu 37 15 48707938 48707938 + Missense_Mutation SNP T T A rs143677764 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:48707938T>A ENST00000316623.5 - 64 8301 c.7846A>T c.(7846-7848)Atc>Ttc p.I2616F FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2616 EGF-like 46; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTCCGCAGATGTGAGCGCTG 0.532000 30 87 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 5 101 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46982566 46982566 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:46982566T>C ENST00000371253.2 - 9 993 c.778A>G c.(778-780)Att>Gtt p.I260V GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I63V NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 260 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCAAAGACAATGTCATTACAC 0.428000 14 19 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111495093 111495093 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:111495093T>C ENST00000369763.4 - 2 803 c.413A>G c.(412-414)cAt>cGt p.H138R LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTCACACCATGACTCTGAAC 0.358000 32 54 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297973 197297973 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:197297973G>C ENST00000367400.3 + 2 627 c.492G>C c.(490-492)caG>caC p.Q164H CRB1_ENST00000535699.1_Missense_Mutation_p.Q95H|CRB1_ENST00000538660.1_Missense_Mutation_p.Q164H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q164H NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 164 EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCGTGTGCCAGGATGGAATTG 0.512000 10 44 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32108493 32108493 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:32108493C>A ENST00000295065.4 - 7 928 c.619G>T c.(619-621)Ggg>Tgg p.G207W MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000426310.2_Missense_Mutation_p.G184W|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.G210W|MEMO1_ENST00000404530.1_Missense_Mutation_p.G207W NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 207 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) TAAATCTCCCCCTGGGATTCA 0.318000 85 250 7.15876e-41 8.58357e-41 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 6 99 0 0 1 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80203722 80203722 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:80203722C>G ENST00000450142.2 - 10 1574 c.1308G>C c.(1306-1308)tgG>tgC p.W436C PPP1R12A_ENST00000437004.2_Missense_Mutation_p.W436C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.W436C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.W436C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.W349C NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 436 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GTCCTAACCTCCAAGTTGCAG 0.388000 18 20 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202343121 202343121 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:202343121G>A ENST00000194530.3 + 10 1232 c.867G>A c.(865-867)ttG>ttA p.L289L STRADB_ENST00000392249.2_Silent_p.L289L NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 289 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ATAGCCCATTGGATATCAGTA 0.388000 34 86 0 0 1 0 0 RAD51D 5892 broad.mit.edu 37 17 33430519 33430519 + Silent SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:33430519C>A ENST00000345365.6 - 7 876 c.621G>T c.(619-621)tcG>tcT p.S207S RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Silent_p.S162S|RAD51D_ENST00000590016.1_Silent_p.S227S|RAD51D_ENST00000460118.2_Silent_p.S88S|RAD51D_ENST00000394589.4_Silent_p.S207S|RAD51L3-RFFL_ENST00000593039.1_Silent_p.S48S|RAD51D_ENST00000335858.7_Silent_p.S95S NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 207 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CCGCAGTGACCGAGTCCACAA 0.567000 Direct reversal of damage 24 23 6.32553e-13 7.23336e-13 1 1 0 SHROOM4 57477 broad.mit.edu 37 X 50350964 50350964 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:50350964C>T ENST00000376020.2 - 6 3203 c.3178G>A c.(3178-3180)Gag>Aag p.E1060K SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1060K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E944K NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1060 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ATGTGACTCTCTGAGAAGGCA 0.562000 18 6 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78279491 78279491 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:78279491A>G ENST00000370791.3 + 6 742 c.710A>G c.(709-711)gAt>gGt p.D237G FAM73A_ENST00000443751.2_Missense_Mutation_p.D199G NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 237 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) CAGGCTGAAGATGAAGCCTGT 0.393000 7 113 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363783 22363783 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:22363783T>C ENST00000397121.2 - 3 1053 c.736A>G c.(736-738)Att>Gtt p.I246V NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCAGTATGAATTATCTTATGT 0.358000 9 226 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72647899 72647899 + Splice_Site SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:72647899C>A ENST00000268097.5 - 3 916 c.e3+1 RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Splice_Site|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CAATTTGTTACCTCGGAGAGC 0.473000 35 45 5.8336e-16 6.73318e-16 1 1 0 MTTP 4547 broad.mit.edu 37 4 100532497 100532497 + Missense_Mutation SNP C C T rs148696330 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:100532497C>T ENST00000457717.1 + 15 2132 c.1876C>T c.(1876-1878)Cgt>Tgt p.R626C MTTP_ENST00000511045.1_Missense_Mutation_p.R653C|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.R626C NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 626 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.R626C(1)|p.R626S(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGGTAGTCCCCGTTCGGCATC 0.443000 42 183 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81746959 81746959 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:81746959C>T ENST00000550584.2 - 16 2228 c.1933G>A c.(1933-1935)Gat>Aat p.D645N PPFIA2_ENST00000550359.2_Missense_Mutation_p.D492N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D212N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D627N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D627N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D571N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D546N NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 571 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GTCTGGGCATCGGAATGACCA 0.388000 24 71 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28421842 28421842 + Missense_Mutation SNP T T A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:28421842T>A ENST00000261609.7 - 62 9613 c.9505A>T c.(9505-9507)Acc>Tcc p.T3169S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3169 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTTCATCGGTCAGAGCCAGG 0.463000 52 191 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33113490 33113490 + Silent SNP C C T rs138473952 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:33113490C>T ENST00000306065.4 - 18 1823 c.1665G>A c.(1663-1665)tcG>tcA p.S555S NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 555 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CAAGTCTGCACGACTCCACGT 0.537000 70 61 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141004838 141004838 + Missense_Mutation SNP A A C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:141004838A>C ENST00000305264.3 - 14 1233 c.1154T>G c.(1153-1155)cTg>cGg p.L385R AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_5'UTR NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 385 anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex 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)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GTCATAGGTCAGGAGGTCTGC 0.517000 12 167 0 0 1 0 0 HSPE1 3336 broad.mit.edu 37 2 198367975 198367975 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:198367975G>A ENST00000233893.5 + 4 744 c.301G>A c.(301-303)Gta>Ata p.V101I HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I NM_002157.2 NP_002148.1 heat shock 10kDa protein 1 lung(1) 1 Epithelial(96;0.225) TGGAAAGTACGTAGACTGAAA 0.328000 4 132 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56020902 56020902 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:56020902G>A ENST00000285298.4 + 2 143 c.14G>A c.(13-15)cGc>cAc p.R5H MRPS17_ENST00000426595.1_Missense_Mutation_p.R100H NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 5 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCCGTAGTTCGCTCATCCGTC 0.448000 7 252 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106876290 106876290 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr9:106876290G>A ENST00000286398.7 + 12 1748 c.1460G>A c.(1459-1461)cGt>cAt p.R487H SMC2_ENST00000374793.3_Missense_Mutation_p.R487H|SMC2_ENST00000303219.8_Missense_Mutation_p.R487H|SMC2_ENST00000374787.3_Missense_Mutation_p.R487H NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 487 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 CAGCTGTCTCGTGATATTGGT 0.343000 56 249 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049448 11049448 + RNA SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr21:11049448A>T ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGAAAACTTACTTGCAGTTC 0.403000 9 322 0 0 1 0 0 ADRB1 153 broad.mit.edu 37 10 115804440 115804440 + Nonsense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:115804440G>A ENST00000369295.2 + 1 635 c.549G>A c.(547-549)tgG>tgA p.W183* NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 183 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GCACCGTGTGGGCCATCTCGG 0.701000 25 23 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132770 91132770 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:91132770C>A ENST00000373094.1 + 2 2376 c.1531C>A c.(1531-1533)Cct>Act p.P511T PCDH11X_ENST00000504220.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P511T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P511T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 511 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGATGCTCCACCTGAATTCAG 0.428000 14 35 4.36969e-10 4.75469e-10 1 1 0 IGLV2-8 28817 broad.mit.edu 37 22 23165642 23165642 + RNA SNP G G T rs7510777 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:23165642G>T ENST00000390317.2 + 0 375 TGATTTATGAGGTCAGTAAGC 0.572000 56 385 2.26907e-38 2.70753e-38 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383039 7383039 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:7383039G>A ENST00000355637.4 + 1 289 c.37G>A c.(37-39)Ggc>Agc p.G13S RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G13S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G13S|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron NM_145893.2 NP_665900.1 Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 242 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GCATCCTTATGGCGTGCCTAT 0.493000 102 181 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326923 57326923 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:57326923G>T ENST00000326441.9 - 10 3250 c.2887C>A c.(2887-2889)Cgc>Agc p.R963S ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R837S|PEG3_ENST00000423103.2_Missense_Mutation_p.R963S|PEG3_ENST00000598410.1_Missense_Mutation_p.R839S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 963 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R963C(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCGAGGGCGAAATGTTTGT 0.473000 36 122 4.92203e-23 5.73462e-23 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113293461 113293461 + Silent SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:113293461A>G ENST00000297405.5 - 59 9694 c.9450T>C c.(9448-9450)ccT>ccC p.P3150P CSMD3_ENST00000455883.2_Silent_p.P2981P|CSMD3_ENST00000343508.3_Silent_p.P3110P|CSMD3_ENST00000352409.3_Silent_p.P3080P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3150 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCTAACTGAAGGTCCAGAAA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 132 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602745 10602745 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:10602745G>A ENST00000171111.5 - 3 1380 c.833C>T c.(832-834)cCg>cTg p.P278L KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 278 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CAGGAAGTTCGGCGTCAACGA 0.612000 46 35 0 0 1 0 0 PIGX 54965 broad.mit.edu 37 3 196449419 196449419 + Missense_Mutation SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:196449419A>T ENST00000314118.4 + 3 469 c.187A>T c.(187-189)Ata>Tta p.I63L PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000421265.1_Missense_Mutation_p.I63L|PIGX_ENST00000495440.1_3'UTR NM_017861.3 NP_060331.3 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X 104 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) AGAGAGAAACATAACAGAGGT 0.383000 54 313 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21989429 21989429 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:21989429C>T ENST00000292779.3 + 4 1238 c.1077C>T c.(1075-1077)ggC>ggT p.G359G NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 359 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCACCAATGGCGGGCAGCCCT 0.652000 18 31 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37693680 37693680 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:37693680G>A ENST00000248901.6 + 5 497 c.310G>A c.(310-312)Gag>Aag p.E104K CYTH4_ENST00000405206.3_Missense_Mutation_p.E104K|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Missense_Mutation_p.E104K NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 104 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GTATAAAGGCGAGGGCCTCAA 0.547000 35 104 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071802 134071802 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:134071802G>A ENST00000264360.4 + 1 1333 c.507G>A c.(505-507)ctG>ctA p.L169L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 169 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACTTCTCCCTGGACGTGCAGA 0.637000 14 71 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 41001261 41001261 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:41001261C>T ENST00000253799.3 + 2 1774 c.1747C>T c.(1747-1749)Ctc>Ttc p.L583F AOC2_ENST00000452774.2_Missense_Mutation_p.L583F NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 583 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) ACCCCGCTACCTCTACCTGGC 0.607000 23 98 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158991674 158991674 + Splice_Site SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:158991674T>G ENST00000337808.6 + 1 640 c.e1+2 IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TCTGACAGTGTAAGTTTTACA 0.408000 8 57 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74270112 74270112 + Missense_Mutation SNP G G A rs72552709 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:74270112G>A ENST00000295897.4 + 1 157 c.68G>A c.(67-69)cGt>cAt p.R23H ALB_ENST00000401494.3_Missense_Mutation_p.R23H|ALB_ENST00000415165.2_Missense_Mutation_p.R23H|ALB_ENST00000509063.1_Missense_Mutation_p.R23H|ALB_ENST00000503124.1_5'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 23 Albumin 1. R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).|R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GGTGTGTTTCGTCGAGATGCA 0.368000 23 101 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 37 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114240338 114240338 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:114240338T>C ENST00000369604.1 - 19 2761 c.2278A>G c.(2278-2280)Att>Gtt p.I760V PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Missense_Mutation_p.I715V|PHTF1_ENST00000369600.1_Missense_Mutation_p.I707V|PHTF1_ENST00000393357.2_Missense_Mutation_p.I760V|PHTF1_ENST00000369596.2_Missense_Mutation_p.I707V Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 760 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATGATTTAATTTTCCACAGC 0.383000 15 30 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119690 19119690 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:19119690C>T ENST00000399635.2 + 1 1370 c.778C>T c.(778-780)Cgg>Tgg p.R260W DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 260 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CGTCAGCCAGCGGCTCCACAT 0.617000 29 70 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682832 31682832 + Silent SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:31682832C>A ENST00000319386.3 + 11 2397 c.1404C>A c.(1402-1404)gcC>gcA p.A468A CCDC129_ENST00000409210.1_Silent_p.A524A|CCDC129_ENST00000407970.3_Silent_p.A616A|CCDC129_ENST00000451887.2_Silent_p.A642A Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 616 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACTCTGAGGCCCCACGAGAAG 0.488000 18 100 9.16793e-09 9.84556e-09 1 1 0 RFX7 64864 broad.mit.edu 37 15 56387143 56387143 + Missense_Mutation SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:56387143T>C ENST00000423270.1 - 9 2782 c.2783A>G c.(2782-2784)cAc>cGc p.H928R RFX7_ENST00000422057.1_Missense_Mutation_p.H831R|RFX7_ENST00000317318.6_Missense_Mutation_p.H928R|RFX7_ENST00000559447.2_Missense_Mutation_p.H831R NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 831 regulation of transcription, DNA-dependent nucleus DNA binding p.H928L(1)|p.H831L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GCTGGAAGTGTGAGATGACAT 0.502000 3 31 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14720106 14720106 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr9:14720106G>A ENST00000380911.3 - 2 830 c.786C>T c.(784-786)atC>atT p.I262I NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 262 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) AAACTCCTGGGATAAAGGAAT 0.463000 41 22 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57188276 57188276 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:57188276C>T ENST00000309137.8 - 7 949 c.691G>A c.(691-693)Gaa>Aaa p.E231K FAM192A_ENST00000569266.1_Missense_Mutation_p.E231K|FAM192A_ENST00000567439.1_Missense_Mutation_p.E231K|FAM192A_ENST00000389447.5_Missense_Mutation_p.E231K|FAM192A_ENST00000564108.1_Missense_Mutation_p.E231K|FAM192A_ENST00000566077.1_Missense_Mutation_p.E154K NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 231 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 ATGGTGCCTTCGCTGTCTGAG 0.602000 15 32 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89345072 89345072 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:89345072T>G ENST00000380265.5 + 14 1957 c.1774T>G c.(1774-1776)Tta>Gta p.L592V HERC6_ENST00000264346.7_Missense_Mutation_p.L592V NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 592 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) ACTCTCCAACTTATTAAACTT 0.303000 3 17 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98469373 98469373 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:98469373G>A ENST00000339364.5 - 2 500 c.381C>T c.(379-381)gaC>gaT p.D127D NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 127 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CTGGCTCATCGTCACAGGTGA 0.537000 36 91 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C C A rs55863639 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:7579312C>A ENST00000420246.2 - 4 507 c.375_splice c.e4+1 p.T125_splice TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(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) GGCAACTGACCGTGCAAGTCA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 48 23 3.21987e-24 3.76923e-24 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25225136 25225136 + RNA SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:25225136C>G ENST00000551631.2 + 0 129 NR_001293.1 TATGGATGGCCCTTAGATTTT 0.368000 4 20 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39648653 39648653 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr14:39648653G>A ENST00000216832.4 + 8 847 c.780G>A c.(778-780)caG>caA p.Q260Q PNN_ENST00000557680.1_3'UTR NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 260 Glu-rich.|Necessary for interaction with RNPS1. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AAGAGTCACAGAGAAAAATGA 0.323000 15 36 0 0 1 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35577278 35577278 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr14:35577278A>G ENST00000555644.1 - 5 922 c.569T>C c.(568-570)tTa>tCa p.L190S PPP2R3C_ENST00000261475.5_Intron Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 0 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) AAATACTTATAAAAGCACAGA 0.308000 74 28 0 0 1 0 0 TMEM161A 54929 broad.mit.edu 37 19 19232402 19232402 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:19232402G>A ENST00000450333.2 - 6 460 c.423C>T c.(421-423)ttC>ttT p.F141F TMEM161A_ENST00000162044.9_Silent_p.F244F|TMEM161A_ENST00000587583.2_Silent_p.F219F NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 244 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) GCAGGCCTGGGAAGGTGAGGA 0.652000 19 33 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357716 55357716 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:55357716G>C ENST00000524622.1 - 6 712 c.51C>G c.(49-51)gaC>gaG p.D17E TESPA1_ENST00000449076.1_Missense_Mutation_p.D155E|TESPA1_ENST00000532804.1_Missense_Mutation_p.D17E|TESPA1_ENST00000531122.1_Missense_Mutation_p.D17E|TESPA1_ENST00000316577.8_Missense_Mutation_p.D155E|TESPA1_ENST00000524959.1_5'UTR NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 155 CTTGCACTTTGTCCAGAATTT 0.428000 31 121 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357715 55357715 + Nonsense_Mutation SNP T T A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:55357715T>A ENST00000524622.1 - 6 713 c.52A>T c.(52-54)Aaa>Taa p.K18* TESPA1_ENST00000449076.1_Nonsense_Mutation_p.K156*|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.K18*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.K18*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.K156*|TESPA1_ENST00000524959.1_5'UTR NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 156 TCTTGCACTTTGTCCAGAATT 0.428000 33 119 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283070 69283070 + Silent SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:69283070C>A ENST00000338352.2 + 1 730 c.696C>A c.(694-696)ccC>ccA p.P232P NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 232 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 TGAAGACCCCCATCGAGGTGA 0.612000 22 9 1.50039e-11 1.69222e-11 1 1 0 CREM 1390 broad.mit.edu 37 10 35477202 35477202 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:35477202A>G ENST00000333809.8 + 6 685 c.631A>G c.(631-633)Aca>Gca p.T211A CREM_ENST00000345491.3_Missense_Mutation_p.T162A|CREM_ENST00000342105.3_Missense_Mutation_p.T107A|CREM_ENST00000337656.4_Missense_Mutation_p.T162A|CREM_ENST00000354759.3_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000479070.1_Missense_Mutation_p.T162A|CREM_ENST00000348787.2_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_5'UTR|CREM_ENST00000439705.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000429130.3_Missense_Mutation_p.T195A|CREM_ENST00000374721.3_Intron|CREM_ENST00000395887.3_Missense_Mutation_p.T132A|CREM_ENST00000361599.4_Missense_Mutation_p.T132A|CREM_ENST00000395895.2_Missense_Mutation_p.T211A|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 211 cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 GCAGGCATTAACAATGACAAA 0.453000 25 81 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50687144 50687144 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:50687144G>T ENST00000230658.7 + 5 1387 c.802G>T c.(802-804)Gcc>Tcc p.A268S ISL1_ENST00000511384.1_Intron|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 268 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) CATGGTGGCTGCCAGTCCAGA 0.527000 6 30 0.0215528 0.0216404 1 1 0 PPFIA2 8499 broad.mit.edu 37 12 81746960 81746960 + Silent SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:81746960G>C ENST00000550584.2 - 16 2227 c.1932C>G c.(1930-1932)tcC>tcG p.S644S PPFIA2_ENST00000550359.2_Silent_p.S491S|PPFIA2_ENST00000541570.2_Silent_p.S211S|PPFIA2_ENST00000333447.7_Silent_p.S626S|PPFIA2_ENST00000549325.1_Silent_p.S626S|PPFIA2_ENST00000548586.1_Silent_p.S644S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.S644S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.S570S|PPFIA2_ENST00000549396.1_Silent_p.S644S|PPFIA2_ENST00000443686.3_Silent_p.S545S NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 570 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCTGGGCATCGGAATGACCAC 0.393000 24 71 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35614747 35614747 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:35614747G>A ENST00000353139.5 - 14 2185 c.1704C>T c.(1702-1704)ttC>ttT p.F568F ACACA_ENST00000394406.2_Silent_p.F531F|ACACA_ENST00000335166.5_Silent_p.F453F|ACACA_ENST00000360679.3_Silent_p.F473F NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 531 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TATTGCTGCGGAAATTTAGCT 0.413000 21 90 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854286 88854286 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:88854286C>T ENST00000537554.1 - 2 4270 c.708G>A c.(706-708)gcG>gcA p.A236A CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 236 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.A236A(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCAGGCAAAACGCCACCACGG 0.562000 12 36 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112647686 112647686 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:112647686C>T ENST00000471858.1 - 4 909 c.677G>A c.(676-678)aGt>aAt p.S226N CD200R1_ENST00000308611.3_Missense_Mutation_p.S249N|CD200R1_ENST00000295863.4_Missense_Mutation_p.S204N NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 226 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TATGTACAGACTCTTGTTGCC 0.388000 48 114 0 0 1 0 0 MEX3D 399664 broad.mit.edu 37 19 1556840 1556840 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:1556840C>T ENST00000402693.4 - 2 677 c.678G>A c.(676-678)gtG>gtA p.V226V MEX3D_ENST00000388824.6_Silent_p.V226V NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 226 KH 1. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGGCCGGTCACGATGAAGA 0.662000 20 61 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33137563 33137563 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:33137563G>A ENST00000375030.2 + 20 2036 c.1418G>A c.(1417-1419)cGt>cAt p.R473H C10orf68_ENST00000375028.3_Missense_Mutation_p.R518H|C10orf68_ENST00000375025.4_Missense_Mutation_p.R578H Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 514 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TCCGTACAACGTCAAGAAGGT 0.294000 97 132 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4008965 4008965 + Silent SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:4008965G>T ENST00000404826.2 + 11 1762 c.1623G>T c.(1621-1623)gcG>gcT p.A541A SDK1_ENST00000389531.3_Silent_p.A541A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 541 Ig-like C2-type 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TACAGATCGCGCCCGTCTTCA 0.552000 82 175 3.73172e-31 4.43141e-31 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151962121 151962121 + Splice_Site SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:151962121A>T ENST00000355193.2 - 8 1403 c.e8+1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C ATGAAAACTTACTTGCAGTTC 0.398000 12 379 0 0 1 0 0 SRRD 402055 broad.mit.edu 37 22 26886031 26886031 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:26886031G>A ENST00000215917.6 + 5 645 c.631G>A c.(631-633)Ggg>Agg p.G211R NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing 211 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 GAGTATTCGCGGGGAGCCTAC 0.473000 29 74 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123166599 123166599 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:123166599G>A ENST00000462833.1 - 1 2006 c.794C>T c.(793-795)cCg>cTg p.P265L NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 265 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CAGCTGGAGCGGGGGCCGCGC 0.672000 31 69 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108044179 108044179 + Nonsense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:108044179G>T ENST00000278612.8 - 13 1637 c.1532C>A c.(1531-1533)tCa>tAa p.S511* NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 511 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGAAACAAATGAAGTTATTGG 0.368000 28 56 1.12875e-08 1.20693e-08 1 1 0 SNCAIP 9627 broad.mit.edu 37 5 121786360 121786360 + Silent SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:121786360G>T ENST00000261367.7 + 12 3387 c.1959G>T c.(1957-1959)cgG>cgT p.R653R CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.R606R|SNCAIP_ENST00000379536.2_Silent_p.R546R|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.R240R|SNCAIP_ENST00000542191.1_Silent_p.R164R|SNCAIP_ENST00000414317.2_Silent_p.R208R|SNCAIP_ENST00000379533.2_Silent_p.R653R|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 606 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CCTCCAGCCGGGCTAGACCCA 0.463000 22 40 7.45023e-12 8.44131e-12 1 1 0 ECE2 9718 broad.mit.edu 37 3 184005706 184005706 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:184005706G>A ENST00000402825.3 + 11 1699 c.1699G>A c.(1699-1701)Gcc>Acc p.A567T ECE2_ENST00000359140.4_Missense_Mutation_p.A420T|ECE2_ENST00000357474.5_Missense_Mutation_p.A495T|ECE2_ENST00000404464.3_Missense_Mutation_p.A449T|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 567 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTTCGTGAAGGCCACGTTTGA 0.478000 22 120 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4229232 4229232 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr20:4229232G>A ENST00000379453.4 - 1 489 c.373C>T c.(373-375)Cgc>Tgc p.R125C NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 125 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TGCAGGTGGCGGTTGCAGGCC 0.637000 14 32 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906883 26906883 + Missense_Mutation SNP T T A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:26906883T>A ENST00000231021.4 - 4 760 c.588A>T c.(586-588)aaA>aaT p.K196N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 196 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TATAGACCACTTTGGCACTAT 0.388000 23 51 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72748110 72748110 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:72748110C>A ENST00000357731.4 - 1 307 c.68G>T c.(67-69)aGc>aTc p.S23I NEGR1_ENST00000434200.1_Missense_Mutation_p.S21I NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 23 cell adhesion anchored to membrane|plasma membrane p.S23N(1) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GCAGCACAGGCTGAGGAGCAC 0.627000 4 36 0.00024832 0.000256632 1 1 0 WDR72 256764 broad.mit.edu 37 15 54025296 54025296 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:54025296G>A ENST00000396328.1 - 2 290 c.51C>T c.(49-51)ccC>ccT p.P17P WDR72_ENST00000559418.1_Silent_p.P17P|WDR72_ENST00000557913.1_Silent_p.P17P|WDR72_ENST00000360509.5_Silent_p.P17P NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 17 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGATGCTGTGGGGAGGGGCCT 0.512000 20 91 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59480656 59480656 + Silent SNP G G A rs146924217 by1000genomes TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:59480656G>A ENST00000307552.2 - 1 681 c.663C>T c.(661-663)ttC>ttT p.F221F NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 CTACCACGATGAAGACATAGG 0.512000 23 42 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1075769 1075769 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:1075769C>T ENST00000441003.2 + 2 222 c.195C>T c.(193-195)tcC>tcT p.S65S MUC2_ENST00000359061.5_Silent_p.S65S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 65 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACTTCGCCTCCGACTGCCGAG 0.642000 13 17 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66286159 66286159 + Splice_Site SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:66286159C>G ENST00000273854.3 - 6 2127 c.1527_splice c.e6+1 p.K509_splice EPHA5_ENST00000354839.4_Splice_Site_p.K509_splice|EPHA5_ENST00000511294.1_Splice_Site_p.K509_splice|EPHA5_ENST00000432638.2_Splice_Site_p.K345_splice NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 509 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTAGTCTTACCTTTTCAAAAT 0.318000 TSP Lung(17;0.13) 34 42 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117503896 117503896 + Silent SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:117503896C>G ENST00000393203.2 + 5 1392 c.1245C>G c.(1243-1245)tcC>tcG p.S415S NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 415 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TGAATGCTTCCAAGGTCCCCG 0.512000 20 58 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79461950 79461950 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:79461950C>T ENST00000264895.6 + 74 12151 c.11711C>T c.(11710-11712)gCg>gTg p.A3904V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3899 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CAGACTGGGGCGTCCATTGGC 0.493000 7 40 0 0 1 0 0 GTDC1 79712 broad.mit.edu 37 2 144966262 144966262 + Silent SNP G G A rs146914833 byFrequency TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:144966262G>A ENST00000409214.1 - 4 365 c.87C>T c.(85-87)gtC>gtT p.V29V GTDC1_ENST00000392869.1_Silent_p.V29V|GTDC1_ENST00000542155.1_Silent_p.V29V|GTDC1_ENST00000392867.3_Silent_p.V29V|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000241391.5_Silent_p.V29V|GTDC1_ENST00000344850.4_Silent_p.V29V|GTDC1_ENST00000409298.1_Silent_p.V29V NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 29 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) GGGTATAAACGACACAGTCTC 0.438000 21 33 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7721970 7721970 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:7721970G>A ENST00000486284.1 + 9 2960 c.2686G>A c.(2686-2688)Gta>Ata p.V896I GRM7_ENST00000403881.1_Missense_Mutation_p.V896I|GRM7_ENST00000357716.4_Missense_Mutation_p.V896I|GRM7_ENST00000389336.4_Missense_Mutation_p.V896I|GRM7_ENST00000402647.2_Missense_Mutation_p.V896I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 896 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.V896I(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTGTGAAAACGTAGACCCAAA 0.512000 24 11 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74304856 74304856 + Missense_Mutation SNP C C T rs141341430 byFrequency TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:74304856C>T ENST00000355773.5 - 11 1700 c.1432G>A c.(1432-1434)Gcc>Acc p.A478T NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 478 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCACCTTTGGCGAATAGTGTA 0.363000 29 79 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45411394 45411394 + Silent SNP G G T rs150452217 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:45411394G>T ENST00000558996.1 - 6 861 c.807C>A c.(805-807)ccC>ccA p.P269P DUOXA1_ENST00000559014.1_Silent_p.P314P|DUOXA1_ENST00000560572.1_Silent_p.P314P|DUOXA1_ENST00000558422.1_Silent_p.P269P|DUOXA1_ENST00000267803.4_Silent_p.P314P|DUOXA1_ENST00000430224.2_Silent_p.P269P NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 314 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CCTGGGACTTGGGACTGTCAG 0.552000 25 86 4.72057e-08 4.98283e-08 1 1 0 PEX11A 8800 broad.mit.edu 37 15 90229714 90229714 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:90229714C>T ENST00000300056.3 - 2 269 c.120G>A c.(118-120)aaG>aaA p.K40K PEX11A_ENST00000561224.1_Silent_p.K40K|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Silent_p.K40K NM_001271573.1 NP_001258502.1 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 40 cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane endometrium(2)|large_intestine(2)|lung(3) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCATTACCACCTTCTCTTTGC 0.408000 15 132 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160557620 160557620 + Silent SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:160557620A>T ENST00000366963.4 + 6 1146 c.999A>T c.(997-999)tcA>tcT p.S333S SLC22A1_ENST00000457470.2_Silent_p.S333S|SLC22A1_ENST00000324965.4_Silent_p.S333S NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 333 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TGAGCCCTTCATTTGCAGACC 0.582000 58 73 0 0 1 0 0 DMAP1 55929 broad.mit.edu 37 1 44680075 44680075 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:44680075G>A ENST00000372289.2 + 2 422 c.159G>A c.(157-159)atG>atA p.M53I DMAP1_ENST00000361745.6_Missense_Mutation_p.M53I|DMAP1_ENST00000315913.5_Missense_Mutation_p.M53I NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 53 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) CCGAGGGCATGCACCGGGAAG 0.512000 5 146 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363785 22363785 + Missense_Mutation SNP A A C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:22363785A>C ENST00000397121.2 - 3 1051 c.734T>G c.(733-735)aTa>aGa p.I245R NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGTATGAATTATCTTATGTTT 0.363000 8 234 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178423653 178423653 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:178423653G>A ENST00000448150.3 + 12 2845 c.2027G>A c.(2026-2028)cGc>cAc p.R676H RASAL2_ENST00000367649.3_Missense_Mutation_p.R694H|RASAL2_ENST00000462775.1_Missense_Mutation_p.R546H NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 546 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GGAATGAAGCGCTTTCTTTTG 0.408000 29 132 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123625035 123625035 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:123625035C>G ENST00000327930.2 - 1 218 c.192G>C c.(190-192)ttG>ttC p.L64F NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTAAGAAAGACAAGTTACAAA 0.463000 18 42 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137548924 137548924 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:137548924G>T ENST00000394886.2 - 1 108 c.78C>A c.(76-78)ttC>ttA p.F26L CDC23_ENST00000505120.1_Missense_Mutation_p.F26L|CDC23_ENST00000394884.3_Missense_Mutation_p.F26L NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 26 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCAAATCTGAGAAATCGCTGT 0.567000 24 52 1.10923e-09 1.20167e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179417916 179417916 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:179417916C>G ENST00000589042.1 - 335 89935 c.89711G>C c.(89710-89712)cGc>cCc p.R29904P 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.R28263P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20964P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20839P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27336P|TTN_ENST00000342175.6_Missense_Mutation_p.R21031P|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28263 Fibronectin type-III 118. 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) TGTATCATTGCGAGTAACTTG 0.408000 37 71 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139768066 139768066 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr8:139768066C>T ENST00000303045.6 - 19 2355 c.1909G>A c.(1909-1911)Gtg>Atg p.V637M COL22A1_ENST00000435777.1_Missense_Mutation_p.V637M NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 637 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCAGGTCCCACGTCACCCTGC 0.572000 HNSCC(7;0.00092) 13 105 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113831862 113831862 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:113831862T>G ENST00000512097.3 + 9 2741 c.1723T>G c.(1723-1725)Tca>Gca p.S575A KCNN2_ENST00000264773.3_Missense_Mutation_p.S575A|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.S227A Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 575 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACCACCAACTTCATCAGAGAG 0.468000 4 84 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122642502 122642502 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:122642502C>A ENST00000195173.4 - 10 1537 c.1234G>T c.(1234-1236)Gcc>Tcc p.A412S SEMA5B_ENST00000357599.3_Missense_Mutation_p.A412S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A466S Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 412 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGGAGCCAGGCAGCCCTGGGG 0.562000 16 119 6.72482e-11 7.41532e-11 1 1 0 ANKRD53 79998 broad.mit.edu 37 2 71206427 71206427 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:71206427G>A ENST00000272421.6 + 2 637 c.371G>A c.(370-372)cGa>cAa p.R124Q ANKRD53_ENST00000360589.3_Missense_Mutation_p.R124Q|ANKRD53_ENST00000441349.1_Missense_Mutation_p.R90Q|ANKRD53_ENST00000457410.1_Missense_Mutation_p.R90Q|AC007040.11_ENST00000606025.1_Intron NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 124 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 GAATGGCTGCGATTCTGTCTG 0.607000 37 104 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167177 140167177 + Silent SNP G G A rs144742806 byFrequency TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:140167177G>A ENST00000504120.2 + 1 1302 c.1302G>A c.(1300-1302)tcG>tcA p.S434S PCDHA1_ENST00000378133.3_Silent_p.S434S|PCDHA1_ENST00000394633.3_Silent_p.S434S NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCGCCTTCGCTGTGGGCCA 0.627000 57 91 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552036 178552036 + Missense_Mutation SNP T T A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:178552036T>A ENST00000251582.7 - 19 2997 c.2896A>T c.(2896-2898)Agc>Tgc p.S966C NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 966 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCCCGGCGGCTCTCGGGCCGG 0.687000 41 101 0 0 1 0 0 HSD17B1 3292 broad.mit.edu 37 17 40705615 40705615 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:40705615G>T ENST00000585807.1 + 3 4144 c.424G>T c.(424-426)Ggg>Tgg p.G142W HSD17B1_ENST00000225929.5_Missense_Mutation_p.G142W|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 142 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GTTGGTGACCGGGAGCGTGGG 0.627000 5 105 0.014758 0.0148785 1 1 0 KIAA1551 55196 broad.mit.edu 37 12 32135923 32135923 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:32135923C>T ENST00000312561.4 + 4 2448 c.2034C>T c.(2032-2034)tcC>tcT p.S678S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CCTGTCTTTCCCTGTGGAAAA 0.428000 15 46 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108813786 108813786 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:108813786G>T ENST00000232603.5 - 7 635 c.553C>A c.(553-555)Cag>Aag p.Q185K MORC1_ENST00000483760.1_Missense_Mutation_p.Q185K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 185 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TCAAACTGCTGCATCAATTCT 0.338000 26 255 4.22769e-11 4.72507e-11 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160645749 160645749 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:160645749T>G ENST00000366953.3 - 10 1847 c.1589A>C c.(1588-1590)gAa>gCa p.E530A SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 530 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TTGCATATTTTCGGCTTCCTC 0.413000 84 81 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100569567 100569567 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:100569567G>A ENST00000471714.1 - 16 1493 c.1384C>T c.(1384-1386)Cgt>Tgt p.R462C ABI3BP_ENST00000284322.5_Missense_Mutation_p.R413C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 424 Pro-rich. extracellular space p.R413C(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TCCAGAATACGATCACTTGTT 0.343000 17 73 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101583097 101583097 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:101583097G>A ENST00000310954.6 - 10 1956 c.1670C>T c.(1669-1671)aCt>aTt p.T557I NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 557 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGTTTCTGCAGTGGATGTTAT 0.284000 22 78 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67574393 67574393 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:67574393G>A ENST00000540839.3 + 10 944 c.724G>A c.(724-726)Gat>Aat p.D242N FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Missense_Mutation_p.D226N|FAM65A_ENST00000428437.2_Missense_Mutation_p.D236N|FAM65A_ENST00000422602.2_Missense_Mutation_p.D242N|FAM65A_ENST00000042381.4_Missense_Mutation_p.D222N Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 226 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GTGTGTAGGCGATCAGTATGA 0.572000 19 44 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48566800 48566800 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:48566800T>G ENST00000396577.3 + 20 2650 c.2435T>G c.(2434-2436)aTa>aGa p.I812R SLC12A1_ENST00000380993.3_Missense_Mutation_p.I812R|SLC12A1_ENST00000558405.1_Missense_Mutation_p.I812R NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 812 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GGCGTGGTTATAGTCAGAATC 0.383000 11 34 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7862969 7862969 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:7862969G>C ENST00000264669.5 - 4 1802 c.1666C>G c.(1666-1668)Cca>Gca p.P556A MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 556 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AACACTTTTGGAGCAAAATAT 0.388000 19 296 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32328384 32328384 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:32328384G>A ENST00000357033.4 - 42 6138 c.5932C>T c.(5932-5934)Cgt>Tgt p.R1978C DMD_ENST00000378677.2_Missense_Mutation_p.R1974C NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1978 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTTTCTTCACGGACAGTGTGC 0.378000 12 17 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 85 0 0 1 0 0 ESRRA 2101 broad.mit.edu 37 11 64082285 64082285 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:64082285C>T ENST00000405666.1 + 5 878 c.644C>T c.(643-645)cCc>cTc p.P215L ESRRA_ENST00000406310.1_Missense_Mutation_p.P214L|ESRRA_ENST00000000442.6_Missense_Mutation_p.P215L P11474 ERR1_HUMAN estrogen-related receptor alpha 215 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 ATGCCTGACCCCGCAGGCCCT 0.582000 20 44 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031379 79031379 + Missense_Mutation SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:79031379A>T ENST00000446378.2 + 2 6822 c.6791A>T c.(6790-6792)gAa>gTa p.E2264V NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2264 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACGTTAAAGAAAAATCCATG 0.348000 26 62 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88986917 88986917 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:88986917G>A ENST00000237596.2 + 12 2310 c.2244G>A c.(2242-2244)aaG>aaA p.K748K PKD2_ENST00000502363.1_Silent_p.K166K|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Silent_p.K166K NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 748 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ATTTCAGGAAGGGCCATACTG 0.433000 57 70 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163029373 163029373 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr2:163029373G>A ENST00000188790.4 - 25 2336 c.2129C>T c.(2128-2130)tCa>tTa p.S710L FAP_ENST00000443424.1_Missense_Mutation_p.S685L|AC007750.5_ENST00000418968.2_RNA NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 710 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 AATCTGTGCTGAGTTTTGAAA 0.398000 22 49 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323247 31323247 + Missense_Mutation SNP G G T rs72558120 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr6:31323247G>T ENST00000412585.2 - 4 770 c.742C>A c.(742-744)Caa>Aaa p.Q248K NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TCCTGAGTTTGGTCCTCGCCA 0.592000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 21 80 1.01871e-10 1.11832e-10 1 1 0 FLRT1 23769 broad.mit.edu 37 11 63884783 63884783 + Silent SNP C C T rs140908634 TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:63884783C>T ENST00000246841.3 + 2 2087 c.1044C>T c.(1042-1044)gcC>gcT p.A348A MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 320 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CACGGGCGGCCGTGGTCAACG 0.627000 11 39 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799050 57799050 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:57799050C>A ENST00000302622.3 + 1 649 c.626C>A c.(625-627)gCt>gAt p.A209D OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GTGTCTCTGGCTGTGCTACTG 0.537000 25 60 4.72057e-08 4.98283e-08 1 1 0 RBM15B 29890 broad.mit.edu 37 3 51429757 51429757 + Silent SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:51429757G>T ENST00000323686.4 + 1 1027 c.927G>T c.(925-927)ctG>ctT p.L309L NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 309 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACTACGGGCTGTACGACGACC 0.697000 19 13 5.03518e-11 5.60221e-11 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195400822 195400822 + RNA SNP G G A rs56170658 by1000genomes TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:195400822G>A ENST00000445430.1 + 0 1418 GTCTGGTCAGGCATGTGCCCT 0.572000 5 96 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7963763 7963763 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:7963763C>T ENST00000306708.6 + 3 457 c.356C>T c.(355-357)cCt>cTt p.P119L AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 119 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 AAGTACTTCCCTTACCTCGTG 0.473000 38 152 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111430632 111430632 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:111430632G>T ENST00000428084.1 - 31 3468 c.3196C>A c.(3196-3198)Ctg>Atg p.L1066M DOCK4_ENST00000437633.1_Missense_Mutation_p.L1066M Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1066 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) GGGCCAATCAGGGCAGGGATA 0.378000 8 14 0.00307968 0.00315635 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686182 125686182 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:125686182C>T ENST00000371126.1 - 1 652 c.410G>A c.(409-411)cGg>cAg p.R137Q NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 137 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTCACTGTCCCGCAAGAGGGG 0.632000 20 37 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102442588 102442588 + Silent SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:102442588T>C ENST00000399004.2 - 3 259 c.165A>G c.(163-165)aaA>aaG p.K55K GIN1_ENST00000508629.1_Silent_p.K55K NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 55 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) GTTTTCTGTCTTTTCCAACAT 0.313000 8 18 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92929488 92929488 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:92929488C>T ENST00000327111.3 + 3 2899 c.1212C>T c.(1210-1212)cgC>cgT p.R404R NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 404 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.R404R(1) NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTCTCATCCGCGATATGTTAC 0.582000 57 114 0 0 1 0 0 TCF7 6932 broad.mit.edu 37 5 133451660 133451660 + Missense_Mutation SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:133451660A>T ENST00000395029.1 + 3 572 c.377A>T c.(376-378)aAt>aTt p.N126I TCF7_ENST00000378564.1_Missense_Mutation_p.N126I|TCF7_ENST00000520958.1_Missense_Mutation_p.N11I|TCF7_ENST00000432532.2_Missense_Mutation_p.N11I|TCF7_ENST00000342854.5_Missense_Mutation_p.N126I|TCF7_ENST00000321584.4_Missense_Mutation_p.N126I|TCF7_ENST00000518915.1_Missense_Mutation_p.N11I|TCF7_ENST00000321603.6_Missense_Mutation_p.N126I|TCF7_ENST00000395023.1_Missense_Mutation_p.N11I|TCF7_ENST00000378560.4_Missense_Mutation_p.N11I P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 126 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCGCCTTCAATCTGCTCATG 0.652000 13 36 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909365 32909365 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr7:32909365G>A ENST00000304056.4 - 4 2163 c.1464C>T c.(1462-1464)ccC>ccT p.P488P AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 488 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) CAGTGCCAGAGGGGAGTCTTA 0.428000 26 140 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292832 102292832 + RNA SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr15:102292832G>C ENST00000561463.1 + 0 878 GAAGACACTCGTGGAGGCGTC 0.597000 6 51 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21334349 21334349 + Missense_Mutation SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr22:21334349C>A ENST00000399167.2 + 19 1933 c.1693C>A c.(1693-1695)Ccc>Acc p.P565T LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.P565T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.P553T|AIFM3_ENST00000333607.6_Missense_Mutation_p.P565T|AIFM3_ENST00000399163.2_Missense_Mutation_p.P565T|AIFM3_ENST00000405089.1_Missense_Mutation_p.P571T NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GAACTACGATCCCATTGTGTC 0.622000 11 41 3.07112e-06 3.2007e-06 1 1 0 MYH3 4621 broad.mit.edu 37 17 10543023 10543023 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr17:10543023C>T ENST00000583535.1 - 23 2866 c.2779G>A c.(2779-2781)Gct>Act p.A927T MYH3_ENST00000226209.7_Missense_Mutation_p.A927T NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 927 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCATCTTCAGCTCTCTCTGTC 0.468000 68 196 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861572 14861572 + Missense_Mutation SNP A A T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:14861572A>T ENST00000285046.5 + 1 1104 c.994A>T c.(994-996)Aat>Tat p.N332Y FGD5_ENST00000543601.1_Missense_Mutation_p.N91Y NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 332 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCCTTTTGAGAATGACTGCAT 0.547000 156 28 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86132112 86132112 + Missense_Mutation SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr10:86132112C>T ENST00000224756.8 + 2 1489 c.1304C>T c.(1303-1305)tCt>tTt p.S435F CCSER2_ENST00000359979.4_Missense_Mutation_p.S435F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S435F NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 GAGGAAATGTCTCTCAAAGAA 0.348000 55 64 0 0 1 0 0 TRPT1 83707 broad.mit.edu 37 11 63992034 63992034 + Silent SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:63992034T>C ENST00000394546.2 - 5 702 c.489A>G c.(487-489)ggA>ggG p.G163G TRPT1_ENST00000546133.1_Silent_p.G35G|TRPT1_ENST00000546089.1_Silent_p.G112G|TRPT1_ENST00000541278.1_Silent_p.G161G|TRPT1_ENST00000394547.3_Silent_p.G112G|TRPT1_ENST00000317459.6_Silent_p.G161G NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1 NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1 Q86TN4 TRPT1_HUMAN tRNA phosphotransferase 1 161 tRNA 2'-phosphotransferase activity lung(2)|skin(1) 3 TACCGGGGTCTCCAGGCAGTC 0.577000 17 23 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22017938 22017938 + Missense_Mutation SNP A A G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr18:22017938A>G ENST00000284202.4 + 5 442 c.301A>G c.(301-303)Att>Gtt p.I101V RP11-178F10.1_ENST00000579049.1_RNA NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 101 RWD. endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) CGGTGAAAGTATTCTTTACCT 0.299000 46 47 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26915930 26915930 + Missense_Mutation SNP G G C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:26915930G>C ENST00000231021.4 - 3 503 c.331C>G c.(331-333)Cat>Gat p.H111D NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 111 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTGCAGCATGAATGTCTCCT 0.413000 7 158 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307218 140307218 + Silent SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr5:140307218C>A ENST00000253807.2 + 1 741 c.741C>A c.(739-741)ccC>ccA p.P247P PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P247P|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACTGCACCCAATGGGACTG 0.532000 15 39 1.3612e-06 1.42465e-06 1 1 0 THAP6 152815 broad.mit.edu 37 4 76442057 76442057 + Missense_Mutation SNP T T G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr4:76442057T>G ENST00000311638.3 + 3 224 c.156T>G c.(154-156)atT>atG p.I52M THAP6_ENST00000380837.3_Missense_Mutation_p.I52M|THAP6_ENST00000502620.1_Missense_Mutation_p.I11M|THAP6_ENST00000504190.1_Missense_Mutation_p.I11M|THAP6_ENST00000514480.1_Missense_Mutation_p.I52M|THAP6_ENST00000507556.1_Missense_Mutation_p.I52M|THAP6_ENST00000507557.1_Missense_Mutation_p.I11M|THAP6_ENST00000508105.1_Missense_Mutation_p.I11M|THAP6_ENST00000507885.1_Missense_Mutation_p.I11M NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 52 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CAGCCGGCATTTGGGAGCCTA 0.363000 27 90 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16256784 16256784 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr1:16256784G>A ENST00000375759.3 + 11 4253 c.4049G>A c.(4048-4050)aGa>aAa p.R1350K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1350 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GATGCTGGCAGATTTGATGTG 0.418000 24 49 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100962998 100962998 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr3:100962998G>A ENST00000193391.7 - 13 2364 c.2177C>T c.(2176-2178)tCt>tTt p.S726F NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 726 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GATTGCTACAGATGTCAGTAT 0.433000 35 70 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181725 120181725 + Missense_Mutation SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:120181725G>A ENST00000328078.1 + 1 264 c.187G>A c.(187-189)Gac>Aac p.D63N NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 63 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) CCGCGAGGACGACCCCAACTT 0.692000 61 18 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62259277 62259277 + Silent SNP T T C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr11:62259277T>C ENST00000257247.7 - 5 604 c.369A>G c.(367-369)gaA>gaG p.E123E AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR NM_024060.2 NP_076965.2 Q09666 AHNK_HUMAN AHNAK nucleoprotein 0 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGTCTTTGCATTCCAGTGCTG 0.468000 7 14 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124991011 124991011 + Frame_Shift_Del DEL C C - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr9:124991011delC ENST00000394319.4 - 1 113 c.9delG c.(7-9)tgfs p.W3fs LHX6_ENST00000340587.3_Frame_Shift_Del_p.W3fs|LHX6_ENST00000559529.1_5'UTR NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 0 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 TCTCATGCTTCCAGTACATGG 0.751 2 4 --- --- --- --- ORMDL2 29095 broad.mit.edu 37 12 56212928 56212928 + Frame_Shift_Del DEL T T - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr12:56212928delT ENST00000243045.5 + 2 340 c.145delT c.(145-147)ggfs p.W49fs ORMDL2_ENST00000548974.1_Frame_Shift_Del_p.W49fs|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000552672.1_Frame_Shift_Del_p.W15fs|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000550836.1_Intron NM_014182.4 NP_054901.1 Q53FV1 ORML2_HUMAN ORM1-like 2 (S. cerevisiae) 49 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane kidney(1)|lung(3) 4 TCCTGTTGTCTGGACCCTGAC 0.488 47 62 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546877 3546878 + RNA INS - - C TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:3546877_3546878insC ENST00000574423.2 + 0 111 tcttttcttttttttttttttt 0.391 2 4 --- --- --- --- FBXL19 54620 broad.mit.edu 37 16 30939204 30939204 + Frame_Shift_Del DEL C C - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr16:30939204delC ENST00000338343.4 + 5 934 c.547delC c.(547-549)ccfs p.P185fs FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 205 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 GCCTGCCGGGCCCCCCCCGGA 0.711 2 4 --- --- --- --- KLC3 147700 broad.mit.edu 37 19 45851393 45851394 + Frame_Shift_Ins INS - - T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr19:45851393_45851394insT ENST00000470402.1 + 4 896_897 c.796_797insT c.(796-798)caafs p.Q266fs KLC3_ENST00000391946.2_Frame_Shift_Ins_p.Q252fs|KLC3_ENST00000585434.1_Frame_Shift_Ins_p.Q251fs Q6P597 KLC3_HUMAN kinesin light chain 3 252 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GGCCACCATGCTCAACATCCTG 0.683 11 10 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 211 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 53 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115574951 115574951 + Frame_Shift_Del DEL T T - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea5270a7-5d42-45eb-908f-601fe20a6b64 5395fbc0-613d-4058-8147-dba0db379899 g.chrX:115574951delT ENST00000371900.4 + 5 737 c.649delT c.(649-651)atfs p.Y217fs NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 217 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CAGTGAACAATATTGGAAGTA 0.338 23 47 --- --- --- ---