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 CYHR1 50626 broad.mit.edu 37 8 145690204 145690204 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr8:145690204C>T ENST00000438911.2 - 1 214 c.81G>A c.(79-81)gtG>gtA p.V27V CYHR1_ENST00000306145.5_Silent_p.V27V|CYHR1_ENST00000403000.2_Silent_p.V27V|CYHR1_ENST00000424149.2_Silent_p.V27V|CTD-2517M22.16_ENST00000525461.1_RNA NM_138496.1 NP_612505.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 27 perinuclear region of cytoplasm zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2) 7 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CGGCTGTGCTCACGGCTGCGT 0.632000 17 33 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136071137 136071137 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:136071137C>T ENST00000401392.1 - 8 1100 c.888G>A c.(886-888)atG>atA p.M296I ZRANB3_ENST00000536680.1_Missense_Mutation_p.M296I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.M296I Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 296 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TTGGAGTTCTCATTATTTTTT 0.378000 43 65 0 0 1 0 0 SNX1 6642 broad.mit.edu 37 15 64418350 64418350 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:64418350G>A ENST00000353874.4 + 6 619 c.583G>A c.(583-585)Gag>Aag p.E195K SNX1_ENST00000560829.1_Intron|SNX1_ENST00000261889.5_Missense_Mutation_p.E195K|SNX1_ENST00000561026.1_Missense_Mutation_p.E130K|SNX1_ENST00000559844.1_Missense_Mutation_p.E195K Q13596 SNX1_HUMAN sorting nexin 1 195 PX. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GGGTCTTTATGAGAAGCTTTC 0.453000 27 53 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93202150 93202150 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:93202150G>T ENST00000370331.1 - 2 95 c.86C>A c.(85-87)tCt>tAt p.S29Y EVI5_ENST00000540033.1_Missense_Mutation_p.S29Y|EVI5_ENST00000543509.1_Missense_Mutation_p.S29Y NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 29 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TGAGAGAGTAGAGCTCAGCTT 0.408000 46 92 4.10826e-27 4.57445e-27 1 1 0 RTN2 6253 broad.mit.edu 37 19 45997882 45997882 + Translation_Start_Site SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:45997882G>A ENST00000590526.1 - 0 765 RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.T154M|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.T154M O75298 RTN2_HUMAN reticulon 2 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CCCGGATCCCGTTCCCCGGGC 0.642000 47 107 0 0 1 0 0 STH 246744 broad.mit.edu 37 17 44076766 44076766 + Nonsense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:44076766C>T ENST00000537309.1 + 1 151 c.121C>T c.(121-123)Cag>Tag p.Q41* MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 41 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GTGGATGATTCAGGTTGCCAG 0.522000 35 45 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824761 8824761 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr18:8824761G>A ENST00000359865.3 + 15 3395 c.3253G>A c.(3253-3255)Gag>Aag p.E1085K SOGA2_ENST00000518815.1_Missense_Mutation_p.E410K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1404K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1395 CTTCCTGCCTGAGAAGGGCCT 0.577000 7 44 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332828 70332828 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:70332828C>G ENST00000373644.4 + 2 942 c.733C>G c.(733-735)Cag>Gag p.Q245E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 245 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AATGTTTGCTCAGGACACAGT 0.488000 12 33 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49965835 49965835 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:49965835C>T ENST00000293350.4 + 8 1084 c.921C>T c.(919-921)ctC>ctT p.L307L ALDH16A1_ENST00000540132.1_Silent_p.L144L|ALDH16A1_ENST00000455361.2_Silent_p.L256L|ALDH16A1_ENST00000433981.2_Silent_p.L142L NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 307 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) AGGGTGGCCTCAGGCTCCTCA 0.592000 76 115 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822465 103822465 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:103822465C>T ENST00000296422.7 - 12 1498 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR NM_139173.3 NP_631912 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 453 integral to membrane solute:hydrogen antiporter activity CTTGCTGTTTCTAGAGCCAGA 0.418000 28 125 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892651 11892651 + Missense_Mutation SNP A A G rs138221659 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:11892651A>G ENST00000357901.4 + 4 2114 c.2012A>G c.(2011-2013)tAt>tGt p.Y671C ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGAAACCCTATAAGTGTAAA 0.398000 20 35 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73505317 73505317 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:73505317G>C ENST00000326291.6 + 14 2083 c.1745G>C c.(1744-1746)aGa>aCa p.R582T NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 582 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CACTTGGCAAGAAGAGTGCTT 0.318000 6 26 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600518 27600518 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:27600518G>T ENST00000323703.6 - 4 1718 c.1520C>A c.(1519-1521)tCt>tAt p.S507Y ZNF513_ENST00000407879.1_Missense_Mutation_p.S445Y NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 507 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGCCCTCAGAGGCAGAGAG 0.662000 50 103 1.23713e-20 1.36781e-20 1 1 0 CCL28 56477 broad.mit.edu 37 5 43412358 43412358 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:43412358C>T ENST00000361115.4 - 1 135 c.61G>A c.(61-63)Gaa>Aaa p.E21K CCL28_ENST00000537013.1_Missense_Mutation_p.E21K NM_148672.2 NP_683513.1 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 21 chemotaxis|immune response extracellular space chemokine activity kidney(3)|lung(3)|ovary(1) 7 CACTCACCTTCTGAGGCATGT 0.562000 6 11 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86122824 86122824 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:86122824G>C ENST00000394518.2 + 7 1620 c.1525G>C c.(1525-1527)Gag>Cag p.E509Q AKAP13_ENST00000361243.2_Missense_Mutation_p.E509Q|RP11-815J21.2_ENST00000561409.1_RNA NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 509 RII-binding. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GGAAAGATTTGAGAACTCTAA 0.498000 7 91 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54871248 54871248 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:54871248G>A ENST00000474759.1 + 15 1509 c.1461G>A c.(1459-1461)caG>caA p.Q487Q CACNA2D3_ENST00000490478.1_Silent_p.Q393Q|CACNA2D3_ENST00000415676.2_Silent_p.Q487Q|CACNA2D3_ENST00000288197.5_Silent_p.Q487Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 487 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTAGTAAGCAGAACGAAACCG 0.522000 63 159 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138478044 138478044 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:138478044G>A ENST00000477593.1 - 2 215 c.142C>T c.(142-144)Cgg>Tgg p.R48W PIK3CB_ENST00000289153.2_Missense_Mutation_p.R48W P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 48 PI3K-ABD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GTAGCTTCCCGAGGTACCTCC 0.408000 17 34 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48622718 48622718 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:48622718G>A ENST00000358350.4 - 6 856 c.252C>T c.(250-252)cgC>cgT p.R84R FRYL_ENST00000503238.1_Silent_p.R84R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.R84R|FRYL_ENST00000537810.1_Silent_p.R84R NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TTCCATTTTGGCGTCTGTACC 0.418000 30 135 0 0 1 0 0 MVB12A 93343 broad.mit.edu 37 19 17534562 17534562 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17534562G>A ENST00000528515.1 + 5 521 c.467G>A c.(466-468)gGa>gAa p.G156E MVB12A_ENST00000317040.7_Silent_p.R198R|MVB12A_ENST00000392702.2_Silent_p.R158R|MVB12A_ENST00000543795.1_Silent_p.R198R|MVB12A_ENST00000529939.1_Silent_p.R198R multivesicular body subunit 12A CCACTCTGCGGAGGAATGACT 0.602000 34 87 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27092748 27092748 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:27092748G>A ENST00000324856.7 + 9 3140 c.2769G>A c.(2767-2769)atG>atA p.M923I ARID1A_ENST00000457599.2_Missense_Mutation_p.M923I|ARID1A_ENST00000374152.2_Missense_Mutation_p.M540I NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 923 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AAGGGGGCATGATGGGAACTG 0.488000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 26 36 0 0 1 0 0 APH1B 83464 broad.mit.edu 37 15 63594548 63594548 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:63594548C>T ENST00000261879.5 + 5 553 c.483C>T c.(481-483)ttC>ttT p.F161F APH1B_ENST00000560716.1_3'UTR|APH1B_ENST00000380343.4_Silent_p.F120F NM_001145646.1|NM_031301.3 NP_001139118.1|NP_112591.2 Q8WW43 APH1B_HUMAN APH1B gamma secretase subunit 161 apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing integral to membrane|plasma membrane|transport vesicle peptidase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 12 TTTCAGCTTTCATGACGCTGG 0.507000 93 190 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086749 92086749 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:92086749G>A ENST00000298047.6 + 1 1488 c.1471G>A c.(1471-1473)Gtt>Att p.V491I FAT3_ENST00000409404.2_Missense_Mutation_p.V491I|FAT3_ENST00000541502.1_Missense_Mutation_p.V491I|FAT3_ENST00000525166.1_Missense_Mutation_p.V341I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 491 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V491I(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGAACCAGCGTTCTAACAGT 0.413000 TCGA Ovarian(4;0.039) 14 37 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178986032 178986032 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:178986032A>G ENST00000286070.5 + 5 891 c.799A>G c.(799-801)Ata>Gta p.I267V NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 269 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CATTTTTGATATAGTACCAGG 0.328000 18 26 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154295554 154295554 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:154295554C>T ENST00000484864.1 + 3 365 c.329C>T c.(328-330)tCt>tTt p.S110F AQP10_ENST00000324978.3_Missense_Mutation_p.S110F|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 110 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGTTGCTGTCTGCTTTCTGT 0.592000 41 140 0 0 1 0 0 CPLX1 10815 broad.mit.edu 37 4 780459 780459 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:780459C>T ENST00000304062.6 - 4 466 c.235G>A c.(235-237)Gag>Aag p.E79K CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K NM_006651.3 NP_006642.1 O14810 CPLX1_HUMAN complexin 1 79 glutamate secretion cytosol kidney(1)|lung(2) 3 Colorectal(103;0.187) GCCTCGGCCTCGCGCTCCTCC 0.756000 5 69 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921257 148921257 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:148921257G>T ENST00000262085.3 + 8 1639 c.1534G>T c.(1534-1536)Ggc>Tgc p.G512C ZNF282_ENST00000479907.1_Intron NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 512 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CCTCCTGCACGGCGCCCGCAG 0.761000 7 18 0.00198382 0.00200942 1 1 0 C17orf47 284083 broad.mit.edu 37 17 56619989 56619989 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:56619989A>G ENST00000321691.3 - 1 1740 c.1559T>C c.(1558-1560)cTg>cCg p.L520P RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 520 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACATACCCAGGAAGAAAGC 0.527000 52 215 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595173 55595173 + Missense_Mutation SNP C C T rs148523172 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55595173C>T ENST00000378397.1 + 1 479 c.479C>T c.(478-480)tCg>tTg p.S160L NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTGATTCACTCGTCCTTAGCT 0.483000 HNSCC(27;0.073) 31 160 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30948416 30948416 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr8:30948416C>G ENST00000298139.5 + 15 2036 c.1787C>G c.(1786-1788)tCt>tGt p.S596C NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 596 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTGTTATCTCTCCCCTTATT 0.358000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 77 0 0 1 0 0 MIF 4282 broad.mit.edu 37 22 24236670 24236670 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr22:24236670G>A ENST00000215754.7 + 1 480 c.9G>A c.(7-9)atG>atA p.M3I AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron NM_002415.1 NP_002406.1 P14174 MIF_HUMAN macrophage migration inhibitory factor (glycosylation-inhibiting factor) 3 cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation cell surface|cytoplasm|extracellular space cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity urinary_tract(1) 1 TCATGCCGATGTTCATCGTAA 0.687000 27 63 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48559773 48559773 + Missense_Mutation SNP G G A rs142190158 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:48559773G>A ENST00000258955.2 + 4 881 c.796G>A c.(796-798)Gag>Aag p.E266K NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 266 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TGTCCTTCGGGAGGCTGGCTT 0.642000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 59 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144922570 144922570 + Silent SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:144922570T>C ENST00000529945.1 - 3 1765 c.1326A>G c.(1324-1326)caA>caG p.Q442Q PDE4DIP_ENST00000479408.2_Silent_p.Q66Q|PDE4DIP_ENST00000530740.1_Silent_p.Q416Q|PDE4DIP_ENST00000313431.9_Silent_p.Q442Q|PDE4DIP_ENST00000369354.3_Silent_p.Q279Q|PDE4DIP_ENST00000369351.3_Silent_p.Q279Q|PDE4DIP_ENST00000369349.3_Silent_p.Q279Q|PDE4DIP_ENST00000369359.4_Silent_p.Q416Q|PDE4DIP_ENST00000369356.4_Silent_p.Q279Q|PDE4DIP_ENST00000313382.9_Silent_p.Q345Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 279 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTACCATCTTGCTTTTGAG 0.388000 T PDGFRB MPD 19 343 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65113142 65113142 + Nonsense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:65113142G>T ENST00000528416.1 + 7 776 c.643G>T c.(643-645)Gga>Tga p.G215* DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Nonsense_Mutation_p.G229*|DPF2_ENST00000532264.1_3'UTR NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 215 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 CTCAGTTTGTGGAAAACGTTA 0.552000 27 57 7.01153e-11 7.5918e-11 1 1 0 ADCY6 112 broad.mit.edu 37 12 49165644 49165644 + Missense_Mutation SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:49165644T>C ENST00000307885.4 - 18 3594 c.2900A>G c.(2899-2901)aAt>aGt p.N967S ADCY6_ENST00000357869.3_Missense_Mutation_p.N914S|ADCY6_ENST00000550422.1_Missense_Mutation_p.N914S NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 967 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GAGTTCATCATTGCGGCGCTC 0.542000 50 81 0 0 1 0 0 PRAMEF14 729528 broad.mit.edu 37 1 13669152 13669152 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:13669152G>A ENST00000344998.3 - 4 1216 c.1034C>T c.(1033-1035)gCc>gTc p.A345V PRAMEF14_ENST00000334600.6_Missense_Mutation_p.A393V|PRAMEF14_ENST00000602491.1_5'UTR Q5SWL7 PRA14_HUMAN PRAME family member 14 345 large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCCTTCAGGGCACCCATAGA 0.542000 24 98 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28259945 28259945 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:28259945C>T ENST00000354638.3 - 9 1176 c.1021G>A c.(1021-1023)Gtc>Atc p.V341I OCA2_ENST00000353809.5_Missense_Mutation_p.V341I|OCA2_ENST00000382996.2_Missense_Mutation_p.V341I NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 341 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGCGCGTAGACGCCCGCGAGG 0.582000 Oculocutaneous Albinism 7 37 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265453 198265453 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:198265453C>T ENST00000335508.6 - 18 2795 c.2704G>A c.(2704-2706)Gaa>Aaa p.E902K NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.E902K(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTAGTCTGTTCTTGGAAAGCA 0.318000 Mis myelodysplastic syndrome 20 38 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179520471 179520471 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:179520471A>G ENST00000367615.4 - 8 1057 c.989T>C c.(988-990)cTg>cCg p.L330P NPHS2_ENST00000367616.4_Missense_Mutation_p.L262P|AXDND1_ENST00000367618.3_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 330 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CTCTGTGGACAGAGACTGAAG 0.542000 79 49 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15730085 15730085 + Nonsense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:15730085G>A ENST00000396368.3 - 3 465 c.259C>T c.(259-261)Cag>Tag p.Q87* KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q87* NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 86 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TTAGGCTGCTGAAGAGAACGA 0.478000 21 83 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17954210 17954210 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17954210G>C ENST00000458235.1 - 4 498 c.399C>G c.(397-399)gtC>gtG p.V133V JAK3_ENST00000534444.1_Silent_p.V133V|JAK3_ENST00000527670.1_Silent_p.V133V|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 133 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGTGCTCCAGGACTGGCAGGT 0.592000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 8 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89388875 89388875 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:89388875G>A ENST00000439576.2 + 7 1565 c.1191G>A c.(1189-1191)gtG>gtA p.V397V ACAN_ENST00000558207.1_Silent_p.V397V|ACAN_ENST00000561243.1_Silent_p.V397V|ACAN_ENST00000559004.1_Silent_p.V397V|ACAN_ENST00000352105.7_Silent_p.V397V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 397 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGGCAGCGTGATCCTTACCG 0.612000 28 69 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29163002 29163002 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:29163002G>C ENST00000321990.4 + 2 2281 c.1903G>C c.(1903-1905)Gaa>Caa p.E635Q CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 635 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CAACTTATCGGAAAAGCACAG 0.373000 27 69 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11213450 11213450 + Missense_Mutation SNP G G A rs144172724 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:11213450G>A ENST00000558518.1 + 3 488 c.301G>A c.(301-303)Gag>Aag p.E101K LDLR_ENST00000558013.1_Missense_Mutation_p.E101K|LDLR_ENST00000545707.1_Missense_Mutation_p.E101K|LDLR_ENST00000455727.2_Missense_Mutation_p.E101K|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.E101K NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 101 LDL-receptor class A 2. E -> K (in FH; Lancashire; 6% of American English). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGGCTCAGACGAGCAAGGCTG 0.592000 34 102 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17953940 17953940 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17953940G>A ENST00000458235.1 - 5 561 c.462C>T c.(460-462)ctC>ctT p.L154L JAK3_ENST00000534444.1_Silent_p.L154L|JAK3_ENST00000527670.1_Silent_p.L154L|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 154 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CCTTGAGACTGAGGCCCACGG 0.672000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 9 35 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38447539 38447539 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:38447539G>C ENST00000209728.4 + 3 879 c.408G>C c.(406-408)caG>caC p.Q136H NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 136 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 ATTCTGAGCAGAGATGTCCAC 0.383000 22 82 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64119635 64119635 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:64119635G>C ENST00000356786.5 + 19 3177 c.3133G>C c.(3133-3135)Gag>Cag p.E1045Q CCDC88B_ENST00000359902.2_Missense_Mutation_p.E197Q|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1045 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAGGGCCAGGAGCTGCACCG 0.677000 21 62 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31086619 31086619 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:31086619G>T ENST00000597505.1 - 17 2379 c.2380C>A c.(2380-2382)Cat>Aat p.H794N DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAGGCACCATGGTGAATGTGA 0.448000 16 10 1.5739e-10 1.6867e-10 1 1 0 JAK3 3718 broad.mit.edu 37 19 17954684 17954684 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17954684G>C ENST00000458235.1 - 3 309 c.210C>G c.(208-210)ctC>ctG p.L70L JAK3_ENST00000534444.1_Silent_p.L70L|JAK3_ENST00000527670.1_Silent_p.L70L|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 70 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CCAGAGCAAAGAGGGAGTGGT 0.607000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 20 32 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44756975 44756975 + Missense_Mutation SNP T T G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr20:44756975T>G ENST00000372285.3 + 8 725 c.653T>G c.(652-654)gTg>gGg p.V218G CD40_ENST00000372276.3_Silent_p.G197G|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 218 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) ttAGAAAAGGTGGCCAAGAAG 0.498000 Immune Deficiency with Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38548350 38548350 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:38548350C>G ENST00000423485.1 - 32 4260 c.4102G>C c.(4102-4104)Gaa>Caa p.E1368Q NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1368 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GGTTTCAGTTCTTTGTTACTA 0.338000 10 31 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48673145 48673145 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:48673145G>C ENST00000334136.5 + 12 1175 c.997G>C c.(997-999)Gag>Cag p.E333Q HDAC6_ENST00000376619.2_Missense_Mutation_p.E333Q|HDAC6_ENST00000413163.2_Missense_Mutation_p.E278Q|HDAC6_ENST00000444343.2_Missense_Mutation_p.E347Q Q9UBN7 HDAC6_HUMAN histone deacetylase 6 333 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGTCGCCCTCGAGGTCCTGGG 0.592000 15 10 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86917259 86917259 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:86917259C>T ENST00000376238.4 - 5 429 c.380G>A c.(379-381)aGa>aAa p.R127K SLC28A3_ENST00000537648.1_Missense_Mutation_p.R58K NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 127 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 AGGAAGGGCTCTGTGAAAGTT 0.478000 28 16 0 0 1 0 0 ENTPD7 57089 broad.mit.edu 37 10 101445571 101445571 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:101445571G>A ENST00000370489.4 + 6 749 c.571G>A c.(571-573)Gac>Aac p.D191N NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 191 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TATCTTGGCTGACCTAGTGAA 0.438000 13 32 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27208921 27208921 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:27208921G>C ENST00000394906.2 - 10 1067 c.990C>G c.(988-990)atC>atG p.I330M FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.I275M|FLOT2_ENST00000585169.1_Missense_Mutation_p.I275M Q14254 FLOT2_HUMAN flotillin 2 275 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCGTACGCAGGATCTCCTGTG 0.612000 31 110 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691728 30691728 + Missense_Mutation SNP G G T rs141103266 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr22:30691728G>T ENST00000215790.7 - 4 686 c.522C>A c.(520-522)caC>caA p.H174Q RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.H48Q|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H181Q|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H86Q NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 174 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTGCTCACCCGTGGCCCCCCC 0.607000 18 43 9.7654e-05 0.000100207 1 1 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011633 46011633 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr21:46011633C>T ENST00000400368.1 - 1 753 c.733G>A c.(733-735)Gag>Aag p.E245K TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 245 29 X 5 AA repeats of C-C-X(3). keratin filament p.E245Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GAGGAATCCTCAGAGCAGGTG 0.662000 61 229 0 0 1 0 0 TUFT1 7286 broad.mit.edu 37 1 151546838 151546838 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:151546838C>T ENST00000368849.3 + 8 749 c.687C>T c.(685-687)gtC>gtT p.V229V TUFT1_ENST00000353024.3_Silent_p.V170V|TUFT1_ENST00000538902.1_Silent_p.V248V|TUFT1_ENST00000392712.3_Silent_p.V174V|TUFT1_ENST00000368848.2_Silent_p.V204V NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 229 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGCAGAAGTCGGAGAGCTGC 0.572000 OREG0003906 type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 55 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38447572 38447572 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:38447572G>C ENST00000209728.4 + 3 912 c.441G>C c.(439-441)gtG>gtC p.V147V NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 147 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 CTGCATGTGTGAGACTATTCA 0.398000 26 102 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717352 73717352 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:73717352G>C ENST00000264448.6 + 10 8374 c.8263G>C c.(8263-8265)Gaa>Caa p.E2755Q ALMS1_ENST00000409009.1_Missense_Mutation_p.E2713Q NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2755 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCATTTCACTGAAGAACAAAA 0.368000 18 93 0 0 1 0 0 OR5K2 402135 broad.mit.edu 37 3 98217295 98217295 + Missense_Mutation SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:98217295C>A ENST00000427338.1 + 1 848 c.771C>A c.(769-771)ttC>ttA p.F257L CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CTATTTTTTTCCTATACATTA 0.333000 18 38 3.41278e-10 3.64494e-10 1 1 0 GALC 2581 broad.mit.edu 37 14 88459483 88459483 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr14:88459483G>T ENST00000261304.2 - 1 132 c.26C>A c.(25-27)tCc>tAc p.S9Y GALC_ENST00000393568.4_Missense_Mutation_p.S9Y|GALC_ENST00000393569.2_Intron NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 9 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCGTTGCCAGGAAGCCGAGAG 0.721000 6 7 0.0293803 0.0295687 1 1 0 RGS1 5996 broad.mit.edu 37 1 192545939 192545939 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:192545939C>T ENST00000367459.3 + 3 320 c.254C>T c.(253-255)tCt>tTt p.S85F RGS1_ENST00000469578.2_Missense_Mutation_p.S85F NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 85 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) TGGTCTCAATCTCTGGAAAAA 0.323000 9 61 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38449839 38449839 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:38449839G>A ENST00000209728.4 + 5 1263 c.792G>A c.(790-792)atG>atA p.M264I NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 264 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 AGGACATGATGAGGAAATTGG 0.473000 20 78 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123979266 123979266 + Nonsense_Mutation SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:123979266C>A ENST00000306315.5 - 6 4669 c.4234G>T c.(4234-4236)Gaa>Taa p.E1412* ZNF608_ENST00000504926.1_Nonsense_Mutation_p.E985*|ZNF608_ENST00000513985.1_5'UTR NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1412 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCTTTAGATTCAGTGGTTGTT 0.438000 19 59 5.3912e-06 5.58692e-06 1 1 0 SIGLEC12 89858 broad.mit.edu 37 19 52003566 52003566 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:52003566C>T ENST00000598614.1 - 1 61 c.62G>A c.(61-63)cGt>cAt p.R21H SIGLEC12_ENST00000291707.3_Intron NM_033329.1 NP_201586.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 0 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTGGAGAAACGAGGGTCAGC 0.607000 28 64 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74271917 74271917 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:74271917G>A ENST00000262765.5 - 18 5146 c.4967C>T c.(4966-4968)tCg>tTg p.S1656L NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1656 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTTGCCAGCCGAAATCTGGGC 0.672000 14 59 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790076 133790076 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:133790076G>A ENST00000321016.8 - 18 3774 c.3544C>T c.(3544-3546)Cgg>Tgg p.R1182W IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1182 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGGCCTGCCGAGGGCTAGGC 0.716000 48 77 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17953365 17953365 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17953365G>T ENST00000458235.1 - 6 720 c.621C>A c.(619-621)ttC>ttA p.F207L JAK3_ENST00000534444.1_Missense_Mutation_p.F207L|JAK3_ENST00000527670.1_Missense_Mutation_p.F207L|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 207 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 TCCGCGTCACGAAGCTCAGGC 0.697000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 9 9 4.68919e-08 4.95759e-08 1 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140347071 140347071 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:140347071G>A ENST00000289269.5 + 1 1252 c.720G>A c.(718-720)acG>acA p.T240T PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 240 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCGGGTACGGCACAGATCT 0.622000 42 83 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88954989 88954989 + Silent SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:88954989A>G ENST00000375961.2 - 8 1384 c.1170T>C c.(1168-1170)caT>caC p.H390H ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Silent_p.H28H|ZCCHC6_ENST00000375963.3_Silent_p.H390H Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 390 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GCACCCTAGCATGGAAGTCTG 0.353000 62 48 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987909 182987909 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:182987909G>C ENST00000326505.3 + 2 853 c.323G>C c.(322-324)aGa>aCa p.R108T MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R108T|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R108T|MCF2L2_ENST00000328913.3_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 108 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TCCGGAATTAGAAGGACGTGG 0.423000 29 51 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43414797 43414797 + Missense_Mutation SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:43414797T>C ENST00000187910.2 - 3 706 c.641A>G c.(640-642)tAt>tGt p.Y214C PSG6_ENST00000292125.2_Missense_Mutation_p.Y214C|PSG6_ENST00000402603.4_Missense_Mutation_p.Y214C NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TTCACATTCATAGGGTCCTGC 0.507000 137 313 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923996 158923996 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:158923996G>C ENST00000367097.3 + 13 4658 c.3301G>C c.(3301-3303)Gag>Cag p.E1101Q TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1101 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTGTCAGCTTGAGAAGCCCTT 0.647000 35 53 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579375 55579375 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55579375G>A ENST00000333973.2 + 1 522 c.433G>A c.(433-435)Gct>Act p.A145T NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGTGGAGCTGGCTTCTTGCTG 0.483000 5 131 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15729912 15729912 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:15729912G>A ENST00000396368.3 - 3 638 c.432C>T c.(430-432)atC>atT p.I144I KIAA0430_ENST00000540441.2_Silent_p.I144I|KIAA0430_ENST00000548025.1_Silent_p.I144I|KIAA0430_ENST00000602337.1_Silent_p.I144I|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.I144I NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 143 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CCTGACACGTGATTGTCCTGG 0.537000 43 166 0 0 1 0 0 HMGN2 3151 broad.mit.edu 37 1 26800009 26800009 + Silent SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:26800009G>T ENST00000361427.5 + 2 145 c.51G>T c.(49-51)gtG>gtT p.V17V HMGN2_ENST00000493418.1_3'UTR NM_005517.3 NP_005508.1 P05204 HMGN2_HUMAN high mobility group nucleosomal binding domain 2 17 chromatin organization|regulation of transcription, DNA-dependent chromatin|cytoplasm|nucleus DNA binding|protein binding breast(1)|lung(2) 3 all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) AAGCAAAGGTGAAGGACGAAG 0.423000 11 39 4.36969e-10 4.63541e-10 1 1 0 LOC645752 645752 broad.mit.edu 37 15 78213884 78213884 + RNA SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:78213884C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTCCCACCTTCGAAGTGTCGG 0.488000 41 91 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29815962 29815962 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:29815962G>C ENST00000375398.2 - 15 2719 c.2270C>G c.(2269-2271)tCt>tGt p.S757C SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.S757C O95425 SVIL_HUMAN supervillin 757 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGTGCCCCCAGAACACGAAGC 0.498000 6 22 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28895667 28895667 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:28895667A>G ENST00000282397.4 - 23 3358 c.3107T>C c.(3106-3108)gTg>gCg p.V1036A FLT1_ENST00000540678.1_Missense_Mutation_p.V254A|FLT1_ENST00000543394.1_Missense_Mutation_p.V59A NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1036 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACAAATCTTCACCACGTTGTT 0.383000 35 42 0 0 1 0 0 PTPMT1 114971 broad.mit.edu 37 11 47593116 47593116 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:47593116G>C ENST00000326656.8 + 3 373 c.349G>C c.(349-351)Gag>Cag p.E117Q PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.E181Q|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 181 Tyrosine-protein phosphatase. inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 6 TGTTCTTAAAGAGTTCCACAA 0.478000 19 87 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128178930 128178930 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:128178930G>C ENST00000453608.2 + 3 213 c.205G>C c.(205-207)Gag>Cag p.E69Q PROC_ENST00000409048.1_Missense_Mutation_p.E48Q|PROC_ENST00000234071.3_Missense_Mutation_p.E48Q|PROC_ENST00000422777.3_Missense_Mutation_p.E48Q P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 48 Gla. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) CTCCTTCCTGGAGGAGCTCCG 0.572000 6 100 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987589 182987589 + Translation_Start_Site SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:182987589G>C ENST00000326505.3 + 2 533 c.3G>C c.(1-3)atG>atC p.M1I MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Start_Codon_SNP_p.M1I|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Start_Codon_SNP_p.M1I|MCF2L2_ENST00000328913.3_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 1 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GAGTGGATATGAGAATGTTGG 0.388000 23 64 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48674019 48674019 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:48674019G>C ENST00000334136.5 + 16 1472 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q HDAC6_ENST00000376619.2_Missense_Mutation_p.E432Q|HDAC6_ENST00000444343.2_Missense_Mutation_p.E446Q Q9UBN7 HDAC6_HUMAN histone deacetylase 6 432 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GGAAGCCCTTGAGCCCTTCTG 0.587000 31 23 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17953149 17953149 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17953149G>A ENST00000458235.1 - 6 936 c.837C>T c.(835-837)atC>atT p.I279I JAK3_ENST00000534444.1_Silent_p.I279I|JAK3_ENST00000527670.1_Silent_p.I279I|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 279 FERM. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGGTCCAGGCGATGCCGCCGT 0.756000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 13 17 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211301003 211301003 + Silent SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:211301003G>T ENST00000443314.1 - 7 1329 c.987C>A c.(985-987)gcC>gcA p.A329A LANCL1_ENST00000450366.2_Silent_p.A329A|LANCL1_ENST00000441020.3_Silent_p.A329A|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Silent_p.A329A|LANCL1_ENST00000431941.2_Silent_p.A329A O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 329 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) GGAAGGCATAGGCATTCCCTG 0.488000 8 86 1.06961e-07 1.11953e-07 1 1 0 OR5M8 219484 broad.mit.edu 37 11 56258311 56258311 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:56258311G>A ENST00000327216.2 - 1 560 c.536C>T c.(535-537)gCg>gTg p.A179V NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TGGTGGGTCCGCACAGTAGAA 0.478000 32 88 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009298 9009298 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:9009298G>A ENST00000397910.4 - 40 39378 c.39175C>T c.(39175-39177)Ctg>Ttg p.L13059L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13061 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGAGTACAGAGGGCCGACA 0.512000 23 79 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3748006 3748006 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:3748006C>T ENST00000541714.2 + 19 2999 c.2537C>T c.(2536-2538)tCg>tTg p.S846L TJP3_ENST00000539908.2_Missense_Mutation_p.S810L|TJP3_ENST00000382008.3_Missense_Mutation_p.S860L|TJP3_ENST00000587686.1_Missense_Mutation_p.S865L|TJP3_ENST00000589378.1_Missense_Mutation_p.S855L|TJP3_ENST00000262968.9_Missense_Mutation_p.S879L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 860 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCGGTCCTCGGAGCCCGTG 0.706000 7 24 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197987389 197987389 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:197987389C>T ENST00000328737.2 - 7 679 c.603G>A c.(601-603)ctG>ctA p.L201L ANKRD44_ENST00000450567.1_Silent_p.L201L|ANKRD44_ENST00000409153.1_Silent_p.L226L|ANKRD44_ENST00000282272.8_Silent_p.L218L|ANKRD44_ENST00000409919.1_Silent_p.L226L|ANKRD44_ENST00000337207.5_Silent_p.L201L|ANKRD44_ENST00000539527.1_Silent_p.L154L Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 226 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCCCCAGGTTCAGGAGATGCT 0.433000 28 55 0 0 1 0 0 CLDN1 9076 broad.mit.edu 37 3 190026116 190026116 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:190026116G>A ENST00000295522.3 - 4 854 c.586C>T c.(586-588)Cca>Tca p.P196S NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 196 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TAGGGCCTTGGTGTTGGGTAA 0.507000 63 107 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187086 152187086 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:152187086C>T ENST00000368801.2 - 3 7094 c.7019G>A c.(7018-7020)gGa>gAa p.G2340E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2340 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCAAATCCAGAAGACTG 0.582000 44 1668 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482020 140482020 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:140482020C>T ENST00000231130.2 + 1 1787 c.1787C>T c.(1786-1788)tCg>tTg p.S596L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 596 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCGACTCGGGCCAGAAC 0.716000 69 85 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92985312 92985312 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:92985312G>C ENST00000544910.1 + 28 2825 c.2605G>C c.(2605-2607)Gat>Cat p.D869H CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.D899H|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.D619H NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 899 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACCCATTCCTGATAAAGAATT 0.358000 13 22 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 26029193 26029193 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:26029193G>A ENST00000435504.4 - 4 450 c.157C>T c.(157-159)Ctt>Ttt p.L53F ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.L25F|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCATGCAAGAGGAGAAGTC 0.373000 7 19 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 4 26 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64680517 64680517 + Missense_Mutation SNP T T G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:64680517T>G ENST00000371076.3 + 5 603 c.359T>G c.(358-360)gTg>gGg p.V120G NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 120 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 TCTAATCCAGTGCTAGAGAAT 0.333000 10 55 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231379921 231379921 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:231379921G>C ENST00000264052.5 + 25 2561 c.2206G>C c.(2206-2208)Gat>Cat p.D736H SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 736 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAAATTTGAAGATATGGCAAA 0.398000 24 24 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695312 64695312 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:64695312G>A ENST00000164133.2 + 4 1057 c.435G>A c.(433-435)gaG>gaA p.E145E NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 145 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CGCCCAGTGAGAACCCTGAAT 0.522000 32 61 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157406139 157406139 + Translation_Start_Site SNP G G A rs114580509 by1000genomes TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:157406139G>A ENST00000409125.4 + 0 156 GPD2_ENST00000438166.2_Silent_p.R227R|GPD2_ENST00000540309.1_Silent_p.R227R|GPD2_ENST00000310454.6_Silent_p.R227R|GPD2_ENST00000409674.1_Silent_p.R227R P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 ACGATGCACGGATGAACCTTG 0.547000 20 70 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56047643 56047643 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:56047643C>T ENST00000413299.1 - 2 56 c.19G>A c.(19-21)Gag>Aag p.E7K SBK2_ENST00000344158.3_Missense_Mutation_p.E7K NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 7 ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGCCCTTCCTCAGACTGTTTG 0.687000 17 44 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45399046 45399046 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:45399046G>A ENST00000389039.6 - 15 2200 c.1815C>T c.(1813-1815)ctC>ctT p.L605L DUOX2_ENST00000603300.1_Silent_p.L605L Q9NRD8 DUOX2_HUMAN dual oxidase 2 605 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GAAGGCAGCAGAGAGCAATGA 0.577000 5 13 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139918598 139918598 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:139918598A>G ENST00000297183.6 + 33 7623 c.7499A>G c.(7498-7500)aAt>aGt p.N2500S ANKHD1_ENST00000360839.2_Missense_Mutation_p.N2500S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.N824S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N2500S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACTTCACAATCCAGATCCT 0.428000 11 33 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532129 84532129 + RNA SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:84532129C>T ENST00000527857.1 + 0 2151 NR_026851.1 TGGGGCCTGCCCCGCAGAATC 0.473000 27 18 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51747077 51747077 + Nonsense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:51747077G>T ENST00000395052.3 + 3 1273 c.1039G>T c.(1039-1041)Gaa>Taa p.E347* GRM2_ENST00000442933.2_Nonsense_Mutation_p.E347*|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 347 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CTGGTTCCGTGAATTCTGGGA 0.592000 11 73 0.000673444 0.000688799 1 1 0 FTSJ3 117246 broad.mit.edu 37 17 61902046 61902046 + Missense_Mutation SNP T T A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:61902046T>A ENST00000427159.2 - 10 1513 c.868A>T c.(868-870)Ata>Tta p.I290L NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 290 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CACACCCGTATGTCCTCAGTG 0.572000 105 184 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184688343 184688343 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:184688343G>C ENST00000318130.8 - 11 1380 c.1114C>G c.(1114-1116)Cat>Gat p.H372D EDEM3_ENST00000367512.3_Missense_Mutation_p.H329D NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 372 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AACATTTCATGAGTTTCAATA 0.299000 19 104 0 0 1 0 0 FOXL2 668 broad.mit.edu 37 3 138665213 138665213 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:138665213C>T ENST00000330315.3 - 1 769 c.352G>A c.(352-354)Gag>Aag p.E118K NM_023067.3 NP_075555.1 P58012 FOXL2_HUMAN forkhead box L2 118 convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding large_intestine(1)|lung(1)|ovary(333)|skin(1) 336 CCGCCGCCCTCGCGCGGCACC 0.612000 Mis granulosa-cell tumour of the ovary """Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III""" 31 27 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2930073 2930073 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:2930073C>T ENST00000264758.7 + 15 2318 c.2130C>T c.(2128-2130)ccC>ccT p.P710P ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P679P|ADD1_ENST00000446856.1_Silent_p.P679P|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000513328.2_3'UTR NM_014189.3 NP_054908.2 P35611 ADDA_HUMAN adducin 1 (alpha) 679 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGGCCAGCCCCGAGCCAGCCC 0.667000 50 123 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11207490 11207490 + Nonsense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:11207490C>G ENST00000379261.4 + 2 187 c.95C>G c.(94-96)tCa>tGa p.S32* CELF2_ENST00000416382.2_Nonsense_Mutation_p.S32*|CELF2_ENST00000450189.1_Nonsense_Mutation_p.S39*|CELF2_ENST00000417956.2_Nonsense_Mutation_p.S8*|CELF2_ENST00000354440.2_Nonsense_Mutation_p.S8*|CELF2_ENST00000354897.3_Nonsense_Mutation_p.S8*|CELF2_ENST00000427450.1_Nonsense_Mutation_p.S8*|CELF2_ENST00000399850.3_Nonsense_Mutation_p.S8*|CELF2_ENST00000608830.1_Nonsense_Mutation_p.S8*|CELF2_ENST00000542579.1_Nonsense_Mutation_p.S39*|CELF2_ENST00000315874.4_Nonsense_Mutation_p.S8*|CELF2_ENST00000537122.1_5'Flank|CELF2_ENST00000609692.1_Nonsense_Mutation_p.S8* NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 32 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 TTGGATCACTCAGACCAACCA 0.522000 48 165 0 0 1 0 0 CTD-3099C6.5 0 broad.mit.edu 37 19 53015515 53015515 + RNA SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:53015515A>G ENST00000599143.1 - 0 80 GAGAAACCTTACAAGTGTAAT 0.403000 17 34 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200376491 200376491 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:200376491G>C ENST00000294740.3 - 2 2467 c.2343C>G c.(2341-2343)ttC>ttG p.F781L ZNF281_ENST00000367353.1_Missense_Mutation_p.F781L|ZNF281_ENST00000367352.3_Missense_Mutation_p.F745L NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 ATGAGGACTGGAAGGCTGATG 0.438000 9 73 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150512664 150512664 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:150512664G>C ENST00000354546.5 - 9 858 c.631C>G c.(631-633)Ctt>Gtt p.L211V ANXA6_ENST00000523714.1_Missense_Mutation_p.L179V|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.L211V|ANXA6_ENST00000521512.1_Intron NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 211 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCAACCGAAGATGCTGCTTG 0.468000 6 8 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 3 39450193 39450193 + Missense_Mutation SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:39450193T>C ENST00000301821.6 + 3 339 c.230T>C c.(229-231)aTa>aCa p.I77T RPSA_ENST00000443003.1_Missense_Mutation_p.I77T|RPSA_ENST00000478027.1_3'UTR NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 77 Interaction with PPP1R16B. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) GTCAGTGTTATATCCTCCAGG 0.398000 28 43 0 0 1 0 0 CRELD1 78987 broad.mit.edu 37 3 9976246 9976246 + Nonsense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:9976246C>T ENST00000383811.3 + 1 723 c.124C>T c.(124-126)Cag>Tag p.Q42* CRELD1_ENST00000452070.1_Nonsense_Mutation_p.Q42*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.Q42*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.Q42* NM_015513.4 NP_056328 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 42 Pro-rich. cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 TCCCCCGCCTCAGCCCCATCC 0.612000 23 42 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733475 152733475 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:152733475G>A ENST00000368773.1 + 2 1469 c.1411G>A c.(1411-1413)Gag>Aag p.E471K KPRP_ENST00000606109.1_Missense_Mutation_p.E471K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 471 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGCACCCAGAGCCTTGTCC 0.682000 75 175 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43498484 43498484 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:43498484G>A ENST00000265351.7 - 23 2829 c.2619C>T c.(2617-2619)ctC>ctT p.L873L NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 873 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGGCTGAGCTGAGAAGCTGGG 0.448000 35 37 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74060234 74060234 + Silent SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:74060234C>G ENST00000307877.2 - 4 545 c.384G>C c.(382-384)ctG>ctC p.L128L SRP68_ENST00000355113.5_Silent_p.L27L|SRP68_ENST00000539137.1_Silent_p.L90L NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 128 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CAGCATCCATCAGAACCAGAA 0.488000 49 137 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 40978640 40978640 + Missense_Mutation SNP G G A rs73931308 byFrequency TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:40978640G>A ENST00000352632.3 + 2 198 c.112G>A c.(112-114)Gct>Act p.A38T SPTBN4_ENST00000595535.1_Missense_Mutation_p.A38T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A38T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A38T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A38T Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 38 Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.A38T(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGCAGCCGGCTGCGTCCAC 0.672000 9 9 0 0 1 0 0 PNMA1 9240 broad.mit.edu 37 14 74179296 74179296 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr14:74179296C>T ENST00000316836.3 - 1 1832 c.1047G>A c.(1045-1047)ctG>ctA p.L349L NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 349 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) AGTGCCCTTCCAGGCCTAACT 0.557000 11 35 0 0 1 0 0 ISPD 729920 broad.mit.edu 37 7 16255786 16255786 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:16255786G>C ENST00000407010.2 - 9 1155 c.1156C>G c.(1156-1158)Cag>Gag p.Q386E ISPD_ENST00000399310.3_Missense_Mutation_p.Q336E|ISPD-AS1_ENST00000457112.1_RNA|ISPD-AS1_ENST00000579293.1_RNA|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000582683.1_RNA NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing 386 isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 TCCATTTTCTGACTGGGAGGT 0.323000 Multiple Myeloma(15;0.18) 3 20 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46728987 46728987 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:46728987C>T ENST00000398576.2 - 9 914 c.526G>A c.(526-528)Gat>Aat p.D176N LCP1_ENST00000323076.2_Missense_Mutation_p.D176N P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 176 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GTTCTTTCATCAATTGTGTCT 0.373000 T BCL6 NHL 23 25 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516525 140516525 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:140516525C>T ENST00000231134.5 + 1 1726 c.1509C>T c.(1507-1509)gtC>gtT p.V503V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 503 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCCTGGTCTCCATCAACG 0.667000 92 250 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68612528 68612528 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:68612528G>C ENST00000423218.2 - 20 2706 c.2611C>G c.(2611-2613)Cag>Gag p.Q871E ITGA11_ENST00000315757.7_Missense_Mutation_p.Q871E Q9UKX5 ITA11_HUMAN integrin, alpha 11 871 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CTTACCTTCTGGATCAAGCTG 0.567000 19 39 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52657481 52657481 + Nonsense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:52657481G>C ENST00000355568.4 - 17 1626 c.1487C>G c.(1486-1488)tCa>tGa p.S496* NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 496 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ACTTATTTTTGAGTTCTCCTT 0.428000 21 34 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88052191 88052191 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:88052191G>A ENST00000393207.1 + 7 1010 c.789G>A c.(787-789)gaG>gaA p.E263E BANP_ENST00000479780.2_Silent_p.E232E|BANP_ENST00000355022.4_Silent_p.E232E|BANP_ENST00000538234.1_Silent_p.E271E|BANP_ENST00000393208.2_Silent_p.E232E|BANP_ENST00000355163.5_Silent_p.E238E|BANP_ENST00000286122.7_Silent_p.E263E NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 263 BEN.|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) TCCACCGCGAGGTGCAGGCTG 0.652000 3 17 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50335588 50335588 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:50335588G>C ENST00000312865.6 + 13 1451 c.1398G>C c.(1396-1398)cgG>cgC p.R466R MED25_ENST00000538643.1_Silent_p.R253R NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 466 Interaction with CREBBP.|Interaction with VP16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CTTTGTTCCGGAACTCAAGGA 0.602000 10 20 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14517366 14517366 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:14517366G>C ENST00000242786.5 + 15 2125 c.2045G>C c.(2044-2046)aGa>aCa p.R682T CD97_ENST00000358600.3_Missense_Mutation_p.R589T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.R633T NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 682 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGCCGCCCCAGATAGTGAGTG 0.677000 OREG0025312 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28519521 28519521 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:28519521G>A ENST00000261609.7 - 7 824 c.716C>T c.(715-717)tCg>tTg p.S239L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 239 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) GTCAAAGAGCGAGGCCTCGGG 0.637000 22 28 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140409905 140409905 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:140409905C>T ENST00000286349.3 + 4 2147 c.1956C>T c.(1954-1956)ctC>ctT p.L652L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 652 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAATGGAGCTCTGTGGACAAA 0.428000 35 76 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009269 9009269 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:9009269G>C ENST00000397910.4 - 40 39407 c.39204C>G c.(39202-39204)ctC>ctG p.L13068L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13070 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCCTCACCTGAGAGAGATCA 0.512000 20 74 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994141 53994141 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:53994141G>A ENST00000396403.4 + 4 783 c.655G>A c.(655-657)Gag>Aag p.E219K ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCAATGTAATGAGAGTGGCAA 0.343000 38 75 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17953978 17953978 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:17953978G>A ENST00000458235.1 - 5 523 c.424C>T c.(424-426)Cgc>Tgc p.R142C JAK3_ENST00000534444.1_Missense_Mutation_p.R142C|JAK3_ENST00000527670.1_Missense_Mutation_p.R142C|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 142 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGTCACTGCGGTGCTGGGGG 0.677000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 23 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144892714 144892714 + Missense_Mutation SNP C C T rs137872634 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr8:144892714C>T ENST00000356994.2 - 13 1471 c.1465G>A c.(1465-1467)Gag>Aag p.E489K SCRIB_ENST00000320476.3_Missense_Mutation_p.E489K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E408K NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 489 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGCCGCCCCTCGATGCTCCTC 0.682000 63 155 0 0 1 0 0 APBB3 10307 broad.mit.edu 37 5 139943359 139943359 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:139943359C>G ENST00000357560.4 - 2 634 c.191G>C c.(190-192)gGa>gCa p.G64A APBB3_ENST00000356738.2_Missense_Mutation_p.G64A|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.G64A|APBB3_ENST00000354402.5_Missense_Mutation_p.G64A|APBB3_ENST00000412920.3_Missense_Mutation_p.G64A|APBB3_ENST00000358580.5_Missense_Mutation_p.G64A|APBB3_ENST00000507279.1_5'UTR NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 64 actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGCATCTCCTAGTTCCCA 0.572000 16 45 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263356 39263356 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:39263356C>T ENST00000280481.7 + 1 2091 c.1875C>T c.(1873-1875)ctC>ctT p.L625L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 625 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGGAACTTCTCAGAGGCCTTT 0.522000 18 29 0 0 1 0 0 C12orf60 144608 broad.mit.edu 37 12 14976461 14976461 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:14976461G>A ENST00000330828.2 + 2 796 c.592G>A c.(592-594)Gag>Aag p.E198K C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 198 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 ACTAAAAACTGAGGATTCCAA 0.413000 26 25 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124522320 124522320 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:124522320G>A ENST00000408936.3 + 6 954 c.772G>A c.(772-774)Gag>Aag p.E258K DAB2IP_ENST00000309989.1_Missense_Mutation_p.E134K|DAB2IP_ENST00000259371.2_Missense_Mutation_p.E230K Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 258 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 TTTCTGGGGCGAGCACTTCGA 0.577000 43 33 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4796971 4796971 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:4796971G>C ENST00000299320.5 + 8 1703 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q C16orf71_ENST00000590191.1_Missense_Mutation_p.E426Q|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGAGGAGGAAGAGATGGCAGC 0.612000 4 4 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87133567 87133567 + Missense_Mutation SNP G G A rs137996914 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:87133567G>A ENST00000265724.3 - 29 4252 c.3835C>T c.(3835-3837)Cgc>Tgc p.R1279C ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215C NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1279 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTTCACTGGCGCTTTGTTCCA 0.388000 8 71 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170108171 170108171 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:170108171C>T ENST00000458537.3 + 4 2299 c.1590C>T c.(1588-1590)atC>atT p.I530I SKIL_ENST00000413427.2_Silent_p.I484I|SKIL_ENST00000259119.4_Silent_p.I530I|SKIL_ENST00000426052.2_Silent_p.I510I NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 530 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGGGAAAAATCATGGAAGAAG 0.348000 13 46 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15984008 15984008 + Nonsense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:15984008G>A ENST00000268712.3 - 24 3468 c.3211C>T c.(3211-3213)Cag>Tag p.Q1071* NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1087* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1071 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TAGGAAGCCTGATTATGAGAA 0.388000 19 22 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36636770 36636770 + Missense_Mutation SNP C C T rs138447994 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:36636770C>T ENST00000316156.4 + 2 698 c.245C>T c.(244-246)cCg>cTg p.P82L MAP7D1_ENST00000373151.2_Missense_Mutation_p.P82L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P82L Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 82 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CCAGCCCCCCCGCAGGAAGAG 0.652000 43 59 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1453084 1453084 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:1453084G>A ENST00000535453.1 + 1 1797 c.84G>A c.(82-84)gaG>gaA p.E28E APC2_ENST00000238483.4_Silent_p.E28E|APC2_ENST00000233607.2_Silent_p.E28E O95996 APC2_HUMAN adenomatosis polyposis coli 2 28 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 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) TGAGGCAGGAGCTAAGGGACA 0.647000 12 21 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 212959 212959 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:212959G>A ENST00000526104.1 + 8 2677 c.1333G>A c.(1333-1335)Gag>Aag p.E445K RIC8A_ENST00000527696.1_Missense_Mutation_p.E439K|RIC8A_ENST00000325207.5_Missense_Mutation_p.E451K Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 445 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGACACAGATGAGTACAAGGA 0.612000 20 14 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46774567 46774567 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr22:46774567G>C ENST00000262738.3 - 23 7303 c.7304C>G c.(7303-7305)tCc>tGc p.S2435C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2435 GPS. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCGGTTCCTGGACAGGAGCTC 0.652000 7 17 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1094084 1094084 + Nonsense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:1094084G>T ENST00000308624.5 + 4 442 c.313G>T c.(313-315)Gaa>Taa p.E105* SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 105 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAAAATATTCGAAGACCAAGC 0.388000 22 39 9.57634e-11 1.03332e-10 1 1 0 AP1S2 8905 broad.mit.edu 37 X 15864095 15864095 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:15864095C>T ENST00000380291.1 - 3 335 c.219G>A c.(217-219)caG>caA p.Q73Q AP1S2_ENST00000421527.2_Silent_p.Q115Q|AP1S2_ENST00000545766.1_Silent_p.Q115Q|AP1S2_ENST00000329235.2_Silent_p.Q73Q P56377 AP1S2_HUMAN adaptor-related protein complex 1, sigma 2 subunit 73 DQD -> ESRN (in Ref. 5; AAC72946). endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein transporter activity large_intestine(1) 1 Hepatocellular(33;0.183) GTTCATTGTCCTGATCCTCAA 0.299000 19 42 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100853905 100853905 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:100853905C>T ENST00000223127.3 - 13 1806 c.1408G>A c.(1408-1410)Gat>Aat p.D470N NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 470 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CGCAGGGTATCACCCCGGATC 0.602000 22 51 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824763 8824763 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr18:8824763G>A ENST00000359865.3 + 15 3397 c.3255G>A c.(3253-3255)gaG>gaA p.E1085E SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000517570.1_Silent_p.E1044E NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1395 TCCTGCCTGAGAAGGGCCTGC 0.572000 7 44 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A rs121913286 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:178936094C>A ENST00000263967.3 + 10 1793 c.1636C>A c.(1636-1638)Cag>Aag p.Q546K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546K(89)|p.Q546E(12) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATCACTGAGCAGGAGAAAGA 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 23 0.00074312 0.000757597 1 1 0 DPF2 5977 broad.mit.edu 37 11 65113143 65113143 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:65113143G>T ENST00000528416.1 + 7 777 c.644G>T c.(643-645)gGa>gTa p.G215V DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.G229V|DPF2_ENST00000532264.1_3'UTR NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 215 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 TCAGTTTGTGGAAAACGTTAC 0.547000 26 57 4.22769e-11 4.59341e-11 1 1 0 PCDHA12 56137 broad.mit.edu 37 5 140257163 140257163 + Silent SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:140257163C>A ENST00000398631.2 + 1 2106 c.2106C>A c.(2104-2106)atC>atA p.I702I PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTCATCATCGCCATCTGTG 0.662000 21 67 8.04996e-18 8.86908e-18 1 1 0 KIF18A 81930 broad.mit.edu 37 11 28113000 28113000 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:28113000C>G ENST00000263181.6 - 4 834 c.544G>C c.(544-546)Gat>Cat p.D182H NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 182 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTTTGGGTATCTTCCCGGACA 0.353000 28 34 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159517867 159517867 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:159517867G>A ENST00000389757.3 + 13 2241 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.E706K NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 706 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CGCGGGGGAAGAAGCTCGGAA 0.542000 HNSCC(62;0.18) 20 37 0 0 1 0 0 ECHDC3 79746 broad.mit.edu 37 10 11805396 11805396 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:11805396C>G ENST00000379215.4 + 5 976 c.765C>G c.(763-765)ttC>ttG p.F255L ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 255 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 AAGCCACCTTCTACAAGCAGC 0.657000 4 61 0 0 1 0 0 PSMC3 5702 broad.mit.edu 37 11 47445700 47445700 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:47445700G>A ENST00000298852.3 - 6 645 c.488C>T c.(487-489)aCg>aTg p.T163M PSMC3_ENST00000602866.1_Missense_Mutation_p.T147M|PSMC3_ENST00000530912.1_Missense_Mutation_p.T121M NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 163 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGTGGGCAGCGTCTCCAGGAT 0.562000 72 78 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45574867 45574867 + Missense_Mutation SNP C C T rs139536353 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:45574867C>T ENST00000303809.2 - 3 1634 c.1420G>A c.(1420-1422)Gag>Aag p.E474K NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 474 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 GCTCAGGCCTCGCCGGCCGCC 0.642000 45 88 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46945130 46945130 + Nonsense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:46945130G>A ENST00000449590.1 + 16 1969 c.1766G>A c.(1765-1767)tGg>tAg p.W589* PTH1R_ENST00000418619.1_Nonsense_Mutation_p.W589*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.W589*|PTH1R_ENST00000430002.2_Nonsense_Mutation_p.W589* NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 589 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CAGGAAGAGTGGGAGACAGTC 0.607000 73 173 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183388884 183388884 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:183388884C>T ENST00000454652.2 + 7 1673 c.1287C>T c.(1285-1287)tcC>tcT p.S429S KLHL24_ENST00000242810.6_Silent_p.S429S|KLHL24_ENST00000476808.1_Silent_p.S429S NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GTTATGATTCCTTTTCAAATC 0.408000 35 98 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71232231 71232231 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:71232231G>A ENST00000418814.2 + 13 1659 c.1045G>A c.(1045-1047)Gag>Aag p.E349K FAM135A_ENST00000370479.3_Missense_Mutation_p.E332K|FAM135A_ENST00000505769.1_Missense_Mutation_p.E349K|FAM135A_ENST00000457062.2_Missense_Mutation_p.E332K|FAM135A_ENST00000505868.1_Missense_Mutation_p.E349K|FAM135A_ENST00000361499.3_Missense_Mutation_p.E349K NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 349 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 CAGATTTTCTGAGGCATTCTT 0.348000 33 63 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681265 55681265 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55681265G>A ENST00000344514.1 - 1 793 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TAGAGAATAGGAAGAACTTGG 0.438000 21 54 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80256563 80256563 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:80256563G>C ENST00000265080.4 + 1 73 c.6G>C c.(4-6)caG>caC p.Q2H CTC-459I6.1_ENST00000505694.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 2 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCACCATGCAGAAGAGCGTGC 0.706000 4 21 0 0 1 0 0 DOK4 55715 broad.mit.edu 37 16 57507884 57507884 + Missense_Mutation SNP C C T rs146675149 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:57507884C>T ENST00000566936.1 - 6 964 c.667G>A c.(667-669)Gtc>Atc p.V223I DOK4_ENST00000340099.4_Missense_Mutation_p.V223I|DOK4_ENST00000569548.1_Missense_Mutation_p.V223I Q8TEW6 DOK4_HUMAN docking protein 4 223 IRS-type PTB. insulin receptor binding kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 GCACTGTGGACGCGCTGGTAA 0.597000 28 80 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285053 223285053 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:223285053G>C ENST00000540964.1 - 4 1782 c.1321C>G c.(1321-1323)Ctc>Gtc p.L441V TLR5_ENST00000342210.6_Missense_Mutation_p.L441V O60602 TLR5_HUMAN toll-like receptor 5 441 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGAAAGTAGAGAATATCTAGA 0.408000 32 82 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779144 156779144 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:156779144C>T ENST00000392306.2 - 7 1022 c.883G>A c.(883-885)Gaa>Aaa p.E295K SH2D2A_ENST00000368198.3_Missense_Mutation_p.E267K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E285K NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 285 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTATGGGTTCATCAGGCTCA 0.602000 26 279 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91261808 91261808 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:91261808G>A ENST00000369329.3 - 8 988 c.827C>T c.(826-828)tCa>tTa p.S276L MAP3K7_ENST00000369327.3_Missense_Mutation_p.S276L|MAP3K7_ENST00000369332.3_Missense_Mutation_p.S276L|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.S276L NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 276 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCCTCCATTGAAGGGCGCTG 0.408000 13 53 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595171 55595171 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55595171C>T ENST00000378397.1 + 1 477 c.477C>T c.(475-477)caC>caT p.H159H NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTCTGATTCACTCGTCCTTAG 0.483000 HNSCC(27;0.073) 33 162 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39839765 39839765 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:39839765C>T ENST00000303538.8 - 32 4260 c.3721G>A c.(3721-3723)Gta>Ata p.V1241I NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 1241 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GCTGCTGTTACTGTTCTTTTC 0.443000 10 16 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36215397 36215397 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:36215397G>C ENST00000251195.5 - 11 2140 c.2044C>G c.(2044-2046)Ctt>Gtt p.L682V CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000373220.3_Missense_Mutation_p.L618V|CLSPN_ENST00000318121.3_Missense_Mutation_p.L682V Q9HAW4 CLSPN_HUMAN claspin 682 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCACTACTAAGAAGGAATTCT 0.353000 5 19 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904012 5904012 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr20:5904012G>C ENST00000378961.4 + 4 1426 c.1222G>C c.(1222-1224)Gag>Cag p.E408Q NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 408 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AAGTGAGGAAGAGAGGGGCCT 0.522000 46 113 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47276486 47276486 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr20:47276486C>T ENST00000396220.1 - 16 1874 c.1852G>A c.(1852-1854)Gtg>Atg p.V618M PREX1_ENST00000371941.3_Missense_Mutation_p.V618M Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 618 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATGTTCTCCACCAGCTTGAAG 0.587000 30 58 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 212753 212753 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:212753G>A ENST00000526104.1 + 7 2548 c.1204G>A c.(1204-1206)Gag>Aag p.E402K RIC8A_ENST00000527696.1_Missense_Mutation_p.E396K|RIC8A_ENST00000325207.5_Missense_Mutation_p.E408K Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 402 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CCTGTGCTCTGAGAGTGGTGA 0.587000 21 27 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49912476 49912476 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:49912476G>C ENST00000447857.3 + 14 1287 c.1082G>C c.(1081-1083)aGa>aCa p.R361T NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 361 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GCCCAGCTGAGAAGAGTGGGC 0.627000 16 33 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56584534 56584534 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:56584534G>A ENST00000323456.5 - 9 936 c.812C>T c.(811-813)tCc>tTc p.S271F MTMR4_ENST00000579925.1_Missense_Mutation_p.S271F NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 271 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGTGCTGAGGGAGCCCCCAGT 0.607000 34 116 0 0 1 0 0 DDX50 79009 broad.mit.edu 37 10 70666665 70666665 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:70666665C>G ENST00000373585.3 + 2 393 c.286C>G c.(286-288)Cta>Gta p.L96V NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 96 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AAGAAAAGATCTACCAAATGG 0.299000 14 57 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84438775 84438775 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:84438775G>C ENST00000416219.2 + 3 341 c.252G>C c.(250-252)caG>caC p.Q84H ATP2C2_ENST00000262429.4_Missense_Mutation_p.Q84H O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 84 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CGGTGACGCAGCGCCGGCTGG 0.557000 12 42 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111519792 111519792 + Missense_Mutation SNP A A T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:111519792A>T ENST00000261486.5 - 18 1819 c.1543T>A c.(1543-1545)Tgg>Agg p.W515R EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 515 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) ACAGCTTCCCACTGAGGCGCT 0.448000 25 62 0 0 1 0 0 COG1 9382 broad.mit.edu 37 17 71196744 71196744 + Silent SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:71196744C>G ENST00000299886.4 + 6 1190 c.1110C>G c.(1108-1110)ctC>ctG p.L370L NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 370 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CCAACCTGCTCATGTACGTGA 0.473000 45 116 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77409626 77409626 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:77409626G>A ENST00000308488.6 - 7 2923 c.2621C>T c.(2620-2622)tCa>tTa p.S874L RSF1_ENST00000360355.2_Missense_Mutation_p.S843L|RSF1_ENST00000480887.1_Missense_Mutation_p.S622L Q96T23 RSF1_HUMAN remodeling and spacing factor 1 874 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCCTCTTCTGAAGCTGCAGA 0.453000 43 75 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13135864 13135864 + Translation_Start_Site SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:13135864G>A ENST00000588228.1 + 0 134 NFIX_ENST00000587260.1_Silent_p.L18L|NFIX_ENST00000397661.2_Silent_p.L19L|NFIX_ENST00000585575.1_Silent_p.L11L|NFIX_ENST00000592199.1_Silent_p.L19L|NFIX_ENST00000360105.4_Silent_p.L22L|NFIX_ENST00000587760.1_Silent_p.L11L|NFIX_ENST00000358552.3_Silent_p.L18L NM_001271043.1 NP_001257972.1 Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TCGAGGCACTGCTGCCTCACG 0.622000 11 20 0 0 1 0 0 MRPL45 84311 broad.mit.edu 37 17 36476627 36476627 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:36476627C>T ENST00000312513.5 + 6 797 c.636C>T c.(634-636)atC>atT p.I212I NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 212 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACGGCCAGATCACCGTACGCA 0.547000 35 237 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19250976 19250976 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr8:19250976C>G ENST00000265807.3 + 9 1607 c.1196C>G c.(1195-1197)tCt>tGt p.S399C SH2D4A_ENST00000518040.1_Missense_Mutation_p.S354C|SH2D4A_ENST00000519207.1_Missense_Mutation_p.S399C NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 399 SH2. cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) ATCGATGCCTCTGCAGACGCC 0.507000 17 85 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3586817 3586817 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:3586817C>T ENST00000322315.5 + 3 462 c.417C>T c.(415-417)atC>atT p.I139I NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 139 PDZ. breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TGCAGAGAATCAAGGAAGGCA 0.627000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 40 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830827 830827 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:830827G>A ENST00000293892.3 - 3 173 c.174C>T c.(172-174)ttC>ttT p.F58F MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 ACGGGTAGGTGAAAGCTGTGT 0.592000 29 119 0 0 1 0 0 TCTA 6988 broad.mit.edu 37 3 49450518 49450518 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:49450518G>A ENST00000273590.3 + 2 465 c.244G>A c.(244-246)Gat>Aat p.D82N TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 82 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATCCACGCCTGATGGCTCCAC 0.572000 12 39 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118865 4118865 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:4118865C>G ENST00000324333.10 - 3 341 c.148G>C c.(148-150)Gag>Cag p.E50Q GLIS3_ENST00000381971.3_Missense_Mutation_p.E205Q NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 50 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCCAAAGACTCACGCGAAATA 0.498000 21 22 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66856755 66856755 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:66856755C>T ENST00000359742.4 - 9 1231 c.991G>A c.(991-993)Gag>Aag p.E331K GRIP1_ENST00000286445.7_Missense_Mutation_p.E331K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E331K Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 331 PDZ 3. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGAAGGATCTCAAGCTTGACC 0.557000 6 39 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128582327 128582327 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:128582327C>G ENST00000402030.2 + 2 264 c.192C>G c.(190-192)ttC>ttG p.F64L IRF5_ENST00000249375.4_Missense_Mutation_p.F64L|IRF5_ENST00000477535.1_Missense_Mutation_p.F64L|IRF5_ENST00000473745.1_Missense_Mutation_p.F64L|IRF5_ENST00000357234.5_Missense_Mutation_p.F64L NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 64 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 ACACCATCTTCAAGGTAAGCC 0.597000 17 51 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48674935 48674935 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:48674935G>C ENST00000334136.5 + 19 1864 c.1686G>C c.(1684-1686)gaG>gaC p.E562D HDAC6_ENST00000376619.2_Missense_Mutation_p.E562D|HDAC6_ENST00000444343.2_Missense_Mutation_p.E576D Q9UBN7 HDAC6_HUMAN histone deacetylase 6 562 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGCACCGTGAGAGTTCCAACT 0.592000 15 5 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10491189 10491189 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:10491189G>T ENST00000397077.1 - 4 614 c.39C>A c.(37-39)aaC>aaA p.N13K ATP2B2_ENST00000352432.4_Missense_Mutation_p.N13K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.N13K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N13K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.N13K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 13 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CATTTCTTTGGTTTTTGGAGT 0.597000 28 70 7.11191e-15 7.78097e-15 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62294417 62294417 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:62294417C>G ENST00000378024.4 - 5 7746 c.7472G>C c.(7471-7473)gGc>gCc p.G2491A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2491 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) AACTTTGGGGCCCCTGATGTT 0.478000 74 123 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73501658 73501658 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:73501658G>A ENST00000321617.3 - 10 1496 c.910C>T c.(910-912)Cgg>Tgg p.R304W CASKIN2_ENST00000433559.2_Missense_Mutation_p.R222W|CASKIN2_ENST00000581870.1_Missense_Mutation_p.R304W NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 304 SH3. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCCCTGCCCGGACATTGAGA 0.537000 47 168 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49844635 49844635 + Silent SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:49844635G>C ENST00000377214.4 - 11 1661 c.1299C>G c.(1297-1299)gtC>gtG p.V433V TEAD2_ENST00000601519.1_Silent_p.V433V|TEAD2_ENST00000311227.2_Silent_p.V430V|TEAD2_ENST00000539846.1_Silent_p.V302V|TEAD2_ENST00000593945.1_Silent_p.V434V|TEAD2_ENST00000598810.1_Silent_p.V434V Q15562 TEAD2_HUMAN TEA domain family member 2 430 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CGCTGGTGGAGACCTCGAAGA 0.602000 34 82 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874370 31874370 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr21:31874370G>A ENST00000334151.2 - 1 65 c.39C>T c.(37-39)taC>taT p.Y13Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 13 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CTCCGTAGCCGTAGCCCAGGC 0.572000 67 118 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230903427 230903427 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:230903427G>C ENST00000354537.1 + 5 759 c.677G>C c.(676-678)aGa>aCa p.R226T CAPN9_ENST00000366666.2_Missense_Mutation_p.R163T|CAPN9_ENST00000271971.2_Missense_Mutation_p.R226T|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 226 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GCTTTGAAGAGAGGCTCCCTG 0.532000 38 150 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579377 55579377 + Silent SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55579377T>C ENST00000333973.2 + 1 524 c.435T>C c.(433-435)gcT>gcC p.A145A NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGAGCTGGCTTCTTGCTGCT 0.478000 5 132 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41327626 41327626 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:41327626G>A ENST00000551295.2 + 9 1048 c.931G>A c.(931-933)Gag>Aag p.E311K CNTN1_ENST00000348761.2_Missense_Mutation_p.E300K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E311K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E311K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E311K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E311K NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 311 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTATGAATGTGAGGCTGAGAA 0.353000 23 34 0 0 1 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28557058 28557058 + Missense_Mutation SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:28557058A>G ENST00000383768.2 + 8 918 c.730A>G c.(730-732)Aaa>Gaa p.K244E ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K244E Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 244 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 AGCAATTTTAAAATGCTCTTT 0.303000 5 20 0 0 1 0 0 FOXL2 668 broad.mit.edu 37 3 138665358 138665358 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:138665358C>G ENST00000330315.3 - 1 624 c.207G>C c.(205-207)gaG>gaC p.E69D NM_023067.3 NP_075555.1 P58012 FOXL2_HUMAN forkhead box L2 69 E -> K (in BPES; sporadic; nuclear aggregation; normal transactivation activity). convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding large_intestine(1)|lung(1)|ovary(333)|skin(1) 336 TCTCCGCGCTCTCGCGGATCG 0.637000 Mis granulosa-cell tumour of the ovary """Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III""" 27 69 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39230197 39230197 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:39230197G>C ENST00000399820.3 + 17 2023 c.1869G>C c.(1867-1869)caG>caC p.Q623H WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.Q463H NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 623 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GCCAAACACAGAGTGGAAAAG 0.438000 38 102 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157406142 157406142 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:157406142G>A ENST00000310454.6 + 7 1056 c.684G>A c.(682-684)atG>atA p.M228I GPD2_ENST00000409125.4_Start_Codon_SNP_p.M1I|GPD2_ENST00000438166.2_Missense_Mutation_p.M228I|GPD2_ENST00000540309.1_Missense_Mutation_p.M228I|GPD2_ENST00000409674.1_Missense_Mutation_p.M228I NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 228 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 ATGCACGGATGAACCTTGCCA 0.552000 22 71 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47502654 47502654 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:47502654C>T ENST00000404338.3 + 5 4130 c.4130C>T c.(4129-4131)tCt>tTt p.S1377F ARHGAP35_ENST00000598548.1_3'UTR NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1377 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TATGTCATCTCTCACCTAAAC 0.463000 3 9 0 0 1 0 0 NUBP2 10101 broad.mit.edu 37 16 1837699 1837699 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:1837699C>T ENST00000262302.9 + 4 476 c.356C>T c.(355-357)tCc>tTc p.S119F NUBP2_ENST00000565134.1_Missense_Mutation_p.S119F|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000565987.1_Missense_Mutation_p.S59F|NUBP2_ENST00000543305.1_5'UTR NM_001284501.1|NM_012225.2 NP_001271430.1|NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 119 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 CAGTTTGTGTCCGACGTGGCC 0.657000 45 115 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865826 148865826 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:148865826G>A ENST00000367467.3 + 18 3695 c.3220G>A c.(3220-3222)Ggt>Agt p.G1074S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1074 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCAGGAGCACGGTGTGAAGCT 0.637000 9 11 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3081930 3081930 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:3081930C>T ENST00000397461.1 + 19 2757 c.2373C>T c.(2371-2373)acC>acT p.T791T CNTN4_ENST00000358480.3_Silent_p.T572T|CNTN4_ENST00000397459.2_Silent_p.T463T|CNTN4_ENST00000418658.1_Silent_p.T791T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.T463T|CNTN4_ENST00000427331.1_Silent_p.T791T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 791 Fibronectin type-III 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCAGTCCCACCACGGTGGTGT 0.433000 23 51 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106888528 106888528 + Missense_Mutation SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:106888528C>A ENST00000379987.2 + 11 1745 c.1529C>A c.(1528-1530)gCc>gAc p.A510D NPNT_ENST00000453617.2_Missense_Mutation_p.A527D|NPNT_ENST00000427316.2_Missense_Mutation_p.A540D|NPNT_ENST00000514622.1_Missense_Mutation_p.A481D|NPNT_ENST00000506666.1_Missense_Mutation_p.A511D|NPNT_ENST00000305572.8_Missense_Mutation_p.A481D NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 510 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CACGGAGCAGCCCTGTGGGGA 0.572000 14 35 4.36969e-10 4.63541e-10 1 1 0 RTBDN 83546 broad.mit.edu 37 19 12945627 12945627 + Nonsense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:12945627G>T ENST00000589272.1 - 2 379 c.50C>A c.(49-51)tCg>tAg p.S17* RTBDN_ENST00000393233.2_5'UTR|MAST1_ENST00000591495.1_Intron|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.S17* Q9BSG5 RTBDN_HUMAN retbindin 0 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 TTCTGTAGCCGAGAAGCGTCC 0.582000 34 53 9.8876e-21 1.09707e-20 1 1 0 FLT1 2321 broad.mit.edu 37 13 28886179 28886179 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr13:28886179G>A ENST00000282397.4 - 26 3694 c.3443C>T c.(3442-3444)gCa>gTa p.A1148V FLT1_ENST00000540678.1_Missense_Mutation_p.A366V|FLT1_ENST00000543394.1_Missense_Mutation_p.A171V NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1148 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CACAAGTTCTGCAAATCTTGG 0.418000 9 56 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12219889 12219889 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:12219889G>A ENST00000491614.1 - 5 587 c.192C>T c.(190-192)gtC>gtT p.V64V NUDT5_ENST00000378937.3_Silent_p.V77V|NUDT5_ENST00000537776.1_Silent_p.V64V|NUDT5_ENST00000378940.3_Silent_p.V64V|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Silent_p.V64V Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 64 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) GCACGGGGATGACCGCGACAC 0.507000 17 31 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035867 110035867 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:110035867G>C ENST00000453089.2 + 5 2845 c.1964G>C c.(1963-1965)aGa>aCa p.R655T ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R687T|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R686T Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 686 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CCCTTAACCAGAGGGCAAAGT 0.562000 117 297 0 0 1 0 0 SNX21 90203 broad.mit.edu 37 20 44462960 44462960 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr20:44462960G>A ENST00000372542.1 + 1 427 c.115G>A c.(115-117)Gac>Aac p.D39N SNX21_ENST00000491381.1_Missense_Mutation_p.D48N|SNX21_ENST00000342644.5_Missense_Mutation_p.D48N|SNX21_ENST00000462307.1_Missense_Mutation_p.D48N|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Missense_Mutation_p.D39N Q969T3 SNX21_HUMAN sorting nexin family member 21 48 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) GCTGGAGGACGACGACGCCGA 0.726000 9 21 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200978081 200978081 + Splice_Site SNP T T C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:200978081T>C ENST00000332129.2 - 3 581 c.e3-2 KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGCCCCCGTCTGCATTGGCAA 0.607000 17 112 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1516274 1516274 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:1516274G>C ENST00000389470.4 - 38 5679 c.5680C>G c.(5680-5682)Ctg>Gtg p.L1894V INTS1_ENST00000404767.3_Missense_Mutation_p.L1695V Q8N201 INT1_HUMAN integrator complex subunit 1 1695 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGGAAGTCCAGAGAGGCAGAG 0.647000 22 87 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46518680 46518680 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:46518680G>A ENST00000263284.2 + 8 1011 c.1011G>A c.(1009-1011)aaG>aaA p.K337K CCDC61_ENST00000595358.1_Silent_p.K280K|CCDC61_ENST00000536603.1_Intron|CCDC61_ENST00000594087.1_Intron coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CATTGTACAAGAGGGGGTGAG 0.731000 18 25 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150710956 150710956 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr7:150710956G>A ENST00000297494.3 + 26 3757 c.3400G>A c.(3400-3402)Gag>Aag p.E1134K ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.E928K|NOS3_ENST00000477227.1_3'UTR NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 1134 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGGCGACGGAGGGCGACAT 0.692000 9 12 0 0 1 0 0 PFDN2 5202 broad.mit.edu 37 1 161071933 161071933 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:161071933C>T ENST00000368010.3 - 3 277 c.193G>A c.(193-195)Gat>Aat p.D65N PFDN2_ENST00000468311.1_Intron NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 65 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CGAGTTTCATCTACCTCCTTC 0.537000 16 98 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49107002 49107002 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:49107002G>A ENST00000263266.3 - 4 1114 c.925C>T c.(925-927)Cgc>Tgc p.R309C NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 309 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCGGGCTGCGGCCCCGCTGC 0.776000 7 28 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322621 31322621 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:31322621C>T ENST00000580599.1 + 3 431 c.22C>T c.(22-24)Ctg>Ttg p.L8L SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.L77L Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 77 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CCTGGTCTGTCTGCTCAGCTG 0.617000 36 66 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686401 108686401 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:108686401C>G ENST00000397688.2 - 3 702 c.333G>C c.(331-333)aaG>aaC p.K111N CMKLR1_ENST00000312143.7_Missense_Mutation_p.K113N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K113N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K111N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K113N NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 113 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGTTGCTGATCTTGCACATGG 0.532000 33 79 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56477742 56477742 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:56477742C>G ENST00000291971.3 + 5 2448 c.2377C>G c.(2377-2379)Ctc>Gtc p.L793V NLRP8_ENST00000590542.1_Missense_Mutation_p.L793V NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 793 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTGCAGTGTCTCAGGTGAGA 0.542000 29 50 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67077411 67077411 + Nonsense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:67077411C>T ENST00000308127.4 + 12 1559 c.1381C>T c.(1381-1383)Cag>Tag p.Q461* SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Nonsense_Mutation_p.Q461* NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 461 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCGCCAGCTGCAGATCTACCA 0.662000 29 91 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105481796 105481796 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:105481796G>A ENST00000393127.2 + 2 518 c.72G>A c.(70-72)ccG>ccA p.P24P GRIA4_ENST00000428631.2_Silent_p.P24P|GRIA4_ENST00000525187.1_Silent_p.P24P|GRIA4_ENST00000282499.5_Silent_p.P24P|GRIA4_ENST00000527669.1_Silent_p.P24P|GRIA4_ENST00000530497.1_Silent_p.P24P|GRIA4_ENST00000393125.2_Silent_p.P24P NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 24 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GAGCCTTTCCGAGCAGCGTGC 0.483000 14 46 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708255 36708255 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:36708255G>T ENST00000264659.7 - 14 2818 c.2594C>A c.(2593-2595)cCc>cAc p.P865H SRCIN1_ENST00000578925.1_Missense_Mutation_p.P899H|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 737 Pro-rich. exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CGGGGGGCTGGGGGGTGGCAT 0.627000 31 135 1.45844e-13 1.5901e-13 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61615962 61615962 + Silent SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:61615962C>G ENST00000583023.1 + 8 1904 c.1893C>G c.(1891-1893)ctC>ctG p.L631L KCNH6_ENST00000314672.5_Silent_p.L631L|KCNH6_ENST00000581784.1_Silent_p.L578L|KCNH6_ENST00000456941.2_Silent_p.L578L NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 631 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCTCCACCCTCTACTTCATCT 0.672000 18 46 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46792606 46792606 + Silent SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr22:46792606C>A ENST00000262738.3 - 13 5738 c.5739G>T c.(5737-5739)ctG>ctT p.L1913L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1913 EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CGCAGGGGTTCAGGTGACAGG 0.592000 8 14 0.27861 0.27861 1 1 0 OR5L1 219437 broad.mit.edu 37 11 55579442 55579442 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55579442C>T ENST00000333973.2 + 1 589 c.500C>T c.(499-501)cCc>cTc p.P167L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTTAGGATCCCCTTCTATAGA 0.453000 17 216 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125141146 125141146 + Missense_Mutation SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:125141146C>A ENST00000362012.2 + 5 450 c.445C>A c.(445-447)Cgt>Agt p.R149S PTGS1_ENST00000223423.4_Missense_Mutation_p.R149S|PTGS1_ENST00000540753.1_Missense_Mutation_p.R124S|PTGS1_ENST00000373698.5_Missense_Mutation_p.R40S NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 149 R -> L (in dbSNP:rs10306140). cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTATTACACTCGTATTCTGCC 0.542000 3 40 0.150653 0.151135 1 1 0 FYB 2533 broad.mit.edu 37 5 39203000 39203000 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:39203000G>A ENST00000351578.6 - 2 253 c.63C>T c.(61-63)ttC>ttT p.F21F FYB_ENST00000515010.1_Silent_p.F21F|FYB_ENST00000540520.1_Silent_p.F31F|FYB_ENST00000512982.1_Silent_p.F21F|FYB_ENST00000505428.1_Silent_p.F21F NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 21 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CTGTGACTCTGAAGGGTCGGC 0.483000 25 61 0 0 1 0 0 PWWP2A 114825 broad.mit.edu 37 5 159546011 159546011 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:159546011C>T ENST00000456329.3 - 1 419 c.385G>A c.(385-387)Gag>Aag p.E129K PWWP2A_ENST00000523662.1_Missense_Mutation_p.E129K|PWWP2A_ENST00000307063.7_Missense_Mutation_p.E129K NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 129 Pro-rich. kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTCGCGCTCCTCGGGAGCC 0.761000 11 42 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77493065 77493065 + Silent SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr14:77493065C>G ENST00000238647.3 - 1 1969 c.1071G>C c.(1069-1071)ctG>ctC p.L357L NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 357 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GGCTCTCGCTCAGCTCGGCCA 0.687000 11 24 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 22 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834958 61834958 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr20:61834958C>T ENST00000370339.3 - 4 675 c.334G>A c.(334-336)Ggg>Agg p.G112R YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G62R NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 112 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 ATGTTGTTCCCCAGGCCCCCA 0.537000 31 67 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259286 43259286 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:43259286G>A ENST00000404209.4 - 4 938 c.842C>T c.(841-843)cCg>cTg p.P281L PSG8_ENST00000406636.3_Missense_Mutation_p.P159L|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.P188L|PSG8_ENST00000306511.4_Missense_Mutation_p.P281L NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 281 Ig-like C2-type 2. extracellular region p.P281Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGGACTGACCGGGAGGCTCTG 0.453000 64 203 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48677060 48677060 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:48677060C>T ENST00000352832.5 + 16 3833 c.3461C>T c.(3460-3462)aCa>aTa p.T1154I CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1154I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1154I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1154I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T1177I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1177I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1154I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1177I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1177 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTGCCAGACACACTGCAGGTG 0.667000 13 36 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33951982 33951982 + Missense_Mutation SNP T T A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:33951982T>A ENST00000389232.4 + 33 4440 c.4370T>A c.(4369-4371)tTt>tAt p.F1457Y RYR3_ENST00000415757.3_Missense_Mutation_p.F1457Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1457 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACTTCTTTGTTTCAGTTTGAA 0.438000 13 16 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595176 55595176 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:55595176C>G ENST00000378397.1 + 1 482 c.482C>G c.(481-483)tCc>tGc p.S161C NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) ATTCACTCGTCCTTAGCTCTT 0.488000 HNSCC(27;0.073) 31 158 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27204206 27204206 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:27204206G>A ENST00000429845.2 - 31 3217 c.2855C>T c.(2854-2856)tCa>tTa p.S952L NEK10_ENST00000383771.4_Missense_Mutation_p.S264L|NEK10_ENST00000357467.2_Missense_Mutation_p.S349L|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.S264L|NEK10_ENST00000295720.6_Missense_Mutation_p.S264L Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 952 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCTTGGTCTTGATCCTGTTCC 0.368000 26 41 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48559722 48559722 + Missense_Mutation SNP G G A rs137932823 byFrequency TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:48559722G>A ENST00000258955.2 + 4 830 c.745G>A c.(745-747)Gac>Aac p.D249N NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 249 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TCCAGCCCCTGACCCGGAGCT 0.647000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 92 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10084784 10084784 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:10084784G>A ENST00000382452.2 - 10 1340 c.1058C>T c.(1057-1059)aCg>aTg p.T353M WDR1_ENST00000382451.2_Missense_Mutation_p.T213M|WDR1_ENST00000499869.2_Missense_Mutation_p.T353M|WDR1_ENST00000502702.1_Missense_Mutation_p.T213M|WDR1_ENST00000515743.1_5'UTR NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 353 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) GTTCTCCCCCGTCTCTGAATC 0.572000 4 35 0 0 1 0 0 FBXO9 26268 broad.mit.edu 37 6 52957257 52957257 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:52957257G>A ENST00000244426.6 + 7 886 c.714G>A c.(712-714)ttG>ttA p.L238L FBXO9_ENST00000323557.7_Silent_p.L228L|FBXO9_ENST00000370939.3_Silent_p.L194L NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 238 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) TGGCCTGCTTGAAAGTTTGGG 0.403000 29 92 0 0 1 0 0 C9orf117 286207 broad.mit.edu 37 9 130471920 130471920 + Silent SNP C C A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:130471920C>A ENST00000373295.2 + 2 421 c.381C>A c.(379-381)cgC>cgA p.R127R NM_001012502.2 NP_001012520.2 Q5JU67 CI117_HUMAN chromosome 9 open reading frame 117 127 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 CCCAGGTGCGCCACGAGTTCC 0.592000 32 20 8.16721e-17 8.96679e-17 1 1 0 AACS 65985 broad.mit.edu 37 12 125626720 125626720 + Missense_Mutation SNP C C G rs150578262 byFrequency TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:125626720C>G ENST00000545511.1 + 7 5487 c.500C>G c.(499-501)tCg>tGg p.S167W AACS_ENST00000543665.1_Missense_Mutation_p.S87W|AACS_ENST00000316543.10_Missense_Mutation_p.S253W|AACS_ENST00000316519.6_Missense_Mutation_p.S655W|AACS_ENST00000261686.6_Silent_p.L587L Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 655 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GGTGCTTTCTCGAACCCCGAG 0.572000 37 111 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45783673 45783673 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:45783673G>C ENST00000300843.4 + 11 1345 c.1048G>C c.(1048-1050)Gag>Cag p.E350Q MARK4_ENST00000262891.4_Missense_Mutation_p.E350Q NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 350 UBA. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGAAATCAAAGAGTCCTTGAC 0.572000 74 188 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68246973 68246973 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr14:68246973C>G ENST00000347230.4 - 23 4797 c.4659G>C c.(4657-4659)atG>atC p.M1553I ZFYVE26_ENST00000555452.1_Missense_Mutation_p.M1553I NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1553 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTTCTAGAATCATGTTCATGA 0.498000 12 23 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475031 140475031 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:140475031C>T ENST00000194155.4 + 1 805 c.657C>T c.(655-657)ggC>ggT p.G219G NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 219 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTAGATGGCGGGAGTCCAC 0.552000 14 26 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133478068 133478068 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:133478068G>A ENST00000402696.3 + 9 1583 c.1098G>A c.(1096-1098)ctG>ctA p.L366L TF_ENST00000264998.3_Silent_p.L239L NM_001063.3 NP_001054 P02787 TRFE_HUMAN transferrin 366 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGTGTGCGCTGAGCCACCACG 0.507000 59 145 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826346 13826346 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr18:13826346C>T ENST00000324750.3 + 1 804 c.582C>T c.(580-582)ttC>ttT p.F194F NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 194 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCTCCATGTTCTTCGCTATGC 0.582000 252 423 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78197355 78197355 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr14:78197355C>T ENST00000261531.7 - 10 1071 c.1009G>A c.(1009-1011)Ggg>Agg p.G337R SNW1_ENST00000555761.1_Missense_Mutation_p.G337R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.G175R NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 337 SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GTTTTGATCCCAGCTCTTCTC 0.358000 24 63 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25136168 25136168 + Missense_Mutation SNP G G A rs143551268 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr8:25136168G>A ENST00000276440.7 + 5 352 c.308G>A c.(307-309)cGa>cAa p.R103Q DOCK5_ENST00000481100.1_Missense_Mutation_p.R103Q NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 103 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GTCATCTGGCGAAAGCTCTAC 0.582000 15 10 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136071154 136071154 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:136071154C>G ENST00000401392.1 - 8 1083 c.871G>C c.(871-873)Gag>Cag p.E291Q ZRANB3_ENST00000536680.1_Missense_Mutation_p.E291Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E291Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 291 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TTTTCCCACTCTTCAAAGCTG 0.363000 31 53 0 0 1 0 0 SUPT3H 8464 broad.mit.edu 37 6 44921139 44921139 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr6:44921139G>A ENST00000371460.1 - 11 1059 c.742C>T c.(742-744)Ctt>Ttt p.L248F SUPT3H_ENST00000371461.2_Missense_Mutation_p.L248F|SUPT3H_ENST00000371459.1_Missense_Mutation_p.L237F|SUPT3H_ENST00000371458.1_Missense_Mutation_p.L20F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L237F NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 319 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 CTCACAAGAAGAGCCAGATCC 0.438000 12 36 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48676746 48676746 + Nonsense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:48676746G>A ENST00000334136.5 + 22 2292 c.2114G>A c.(2113-2115)tGg>tAg p.W705* HDAC6_ENST00000376619.2_Nonsense_Mutation_p.W705*|HDAC6_ENST00000444343.2_Nonsense_Mutation_p.W719* Q9UBN7 HDAC6_HUMAN histone deacetylase 6 705 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AACGTGGCATGGAACGGGCCC 0.627000 11 4 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332900 70332900 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:70332900C>G ENST00000373644.4 + 2 1014 c.805C>G c.(805-807)Cag>Gag p.Q269E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 269 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCCCAGCATTCAGTTAGAAGA 0.453000 20 52 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46000914 46000914 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:46000914G>A ENST00000296137.2 - 12 3763 c.3558C>T c.(3556-3558)ttC>ttT p.F1186F FYCO1_ENST00000535325.1_Silent_p.F1186F NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1186 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CCATCCAGCTGAACTCCCGCT 0.602000 68 109 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5756257 5756257 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:5756257C>T ENST00000414202.2 + 16 1929 c.1738C>T c.(1738-1740)Cat>Tat p.H580Y KIAA1432_ENST00000251879.6_Missense_Mutation_p.H580Y|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H501Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H501Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H464Y NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 580 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGCCTTTGCTCATGTCACCAA 0.353000 27 28 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56051894 56051894 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:56051894C>T ENST00000584396.1 - 6 1567 c.1479G>A c.(1477-1479)atG>atA p.M493I VEZF1_ENST00000581208.1_Missense_Mutation_p.M502I Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 502 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 CTACAGGTCTCATTGCTATAT 0.438000 32 107 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100105771 100105771 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr9:100105771C>T ENST00000375202.2 + 33 3908 c.2556C>T c.(2554-2556)atC>atT p.I852I CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Silent_p.I849I|CCDC180_ENST00000357054.1_Silent_p.I991I|CCDC180_ENST00000529487.1_Silent_p.I852I|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 CCATGTTCATCAACGACACTT 0.383000 25 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179643746 179643746 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:179643746G>A ENST00000589042.1 - 24 4287 c.4063C>T c.(4063-4065)Ctt>Ttt p.L1355F TTN_ENST00000342175.6_Missense_Mutation_p.L1309F|TTN_ENST00000591111.1_Missense_Mutation_p.L1355F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L1309F|TTN_ENST00000460472.2_Missense_Mutation_p.L1309F|TTN_ENST00000360870.5_Missense_Mutation_p.L1355F|TTN_ENST00000342992.6_Missense_Mutation_p.L1355F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1355 Ig-like 5. 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) TCTTCTGGAAGAACAACAGGT 0.433000 21 36 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128711982 128711982 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr3:128711982C>G ENST00000265068.5 - 2 333 c.166G>C c.(166-168)Gag>Cag p.E56Q KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56Q NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 56 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GATGAGGACTCGATGCTGCTG 0.592000 44 104 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20530628 20530628 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:20530628C>T ENST00000504154.1 + 16 1771 c.1519C>T c.(1519-1521)Cct>Tct p.P507S SLIT2_ENST00000503837.1_Missense_Mutation_p.P503S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P511S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P499S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 507 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCTGGCTTGCCCTGAAAAGTG 0.413000 29 39 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57126654 57126654 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr17:57126654G>A ENST00000376149.3 - 15 1858 c.1049C>T c.(1048-1050)gCt>gTt p.A350V TRIM37_ENST00000393066.3_Missense_Mutation_p.A472V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A438V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A472V O94972 TRI37_HUMAN tripartite motif containing 37 472 MATH. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AGACTTCTTAGCTCGTGTCTC 0.458000 Mulibrey Nanism 23 67 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48631763 48631763 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chrX:48631763G>A ENST00000303227.6 + 4 436 c.395G>A c.(394-396)aGa>aAa p.R132K GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 CCAGTCCCCAGAACAGGGGCA 0.488000 19 18 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43969688 43969688 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:43969688C>T ENST00000244333.3 - 1 124 c.36G>A c.(34-36)atG>atA p.M12I NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 12 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) CAGTCCAGATCATGGCCTGGG 0.687000 58 115 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657143 40657143 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:40657143G>C ENST00000406785.2 - 2 467 c.278C>G c.(277-279)tCt>tGt p.S93C SLC8A1_ENST00000332839.4_Missense_Mutation_p.S93C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S93C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S93C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S93C P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGCTATGATAGAGACTCCAAG 0.413000 23 74 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 82892035 82892035 + Missense_Mutation SNP C C G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr16:82892035C>G ENST00000566620.1 + 2 404 c.114C>G c.(112-114)atC>atG p.I38M CDH13_ENST00000446376.2_Missense_Mutation_p.I38M|CDH13_ENST00000428848.3_Missense_Mutation_p.I38M|CDH13_ENST00000268613.10_Missense_Mutation_p.I85M|CDH13_ENST00000431540.3_Missense_Mutation_p.I38M|CDH13_ENST00000565636.1_Missense_Mutation_p.I38M|CDH13_ENST00000567445.1_Missense_Mutation_p.I38M NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 38 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.I38M(3) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGTTCCATATCAATCAGCCAG 0.373000 16 32 0 0 1 0 0 PWWP2A 114825 broad.mit.edu 37 5 159546012 159546012 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:159546012C>T ENST00000456329.3 - 1 418 c.384G>A c.(382-384)gaG>gaA p.E128E PWWP2A_ENST00000523662.1_Silent_p.E128E|PWWP2A_ENST00000307063.7_Silent_p.E128E NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 128 Pro-rich. kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTCGCGCTCCTCGGGAGCCG 0.761000 11 42 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71125195 71125195 + Silent SNP A A G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr15:71125195A>G ENST00000299213.8 - 3 742 c.672T>C c.(670-672)ttT>ttC p.F224F NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 224 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 AGATGACTCCAAAAGTCCCAA 0.562000 12 32 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64680524 64680524 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:64680524G>A ENST00000371076.3 + 5 610 c.366G>A c.(364-366)gaG>gaA p.E122E NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 122 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 CAGTGCTAGAGAATCCAGTGA 0.333000 10 53 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50335360 50335360 + Missense_Mutation SNP G G T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:50335360G>T ENST00000312865.6 + 12 1373 c.1320G>T c.(1318-1320)aaG>aaT p.K440N MED25_ENST00000538643.1_Missense_Mutation_p.K227N NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 440 Interaction with CREBBP.|Interaction with VP16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CCCCCAGGAAGACGGAGCAGT 0.672000 18 54 1.01871e-10 1.09546e-10 1 1 0 EPHA8 2046 broad.mit.edu 37 1 22919901 22919901 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:22919901G>A ENST00000166244.3 + 6 1470 c.1398G>A c.(1396-1398)ccG>ccA p.P466P NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 466 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCGAGCAGCCGAACGGCATCA 0.677000 4 15 0 0 1 0 0 C10orf88 80007 broad.mit.edu 37 10 124697411 124697411 + Missense_Mutation SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr10:124697411C>T ENST00000481909.1 - 5 1137 c.913G>A c.(913-915)Gaa>Aaa p.E305K C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 305 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AGATCATTTTCAAGAAAGGAA 0.368000 22 34 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65486200 65486200 + Missense_Mutation SNP G G C TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr11:65486200G>C ENST00000341318.4 + 11 1638 c.1404G>C c.(1402-1404)gaG>gaC p.E468D KAT5_ENST00000534650.1_Missense_Mutation_p.E224D|KAT5_ENST00000377046.3_Missense_Mutation_p.E435D|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.E383D|KAT5_ENST00000530446.1_Missense_Mutation_p.E416D NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 435 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 AGAGCGGGGAGAGGCCACAGA 0.592000 46 131 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5110722 5110722 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:5110722C>T ENST00000159111.4 + 10 1226 c.1008C>T c.(1006-1008)ggC>ggT p.G336G KDM4B_ENST00000381759.4_Silent_p.G336G|KDM4B_ENST00000536461.1_Silent_p.G336G NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 336 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GGAAGCAGGGCAAGGACCTCA 0.672000 4 45 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45783664 45783664 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:45783664G>A ENST00000300843.4 + 11 1336 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K MARK4_ENST00000262891.4_Missense_Mutation_p.E347K NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 347 UBA. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CACACGGGAAGAAATCAAAGA 0.542000 74 190 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(43-45)ctg>CTGctg p.15_15L>LL PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 15 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 6 1 --- --- --- --- MRPS9 64965 broad.mit.edu 37 2 105705511 105705512 + Frame_Shift_Ins INS - - A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr2:105705511_105705512insA ENST00000258455.3 + 6 669_670 c.559_560insA c.(559-561)gaafs p.E187fs NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 187 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCTGCTCCCAGAAAAAACTGTA 0.317 9 41 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(166-168)ggc>GGCggc p.56_56G>GG AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 56 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 5 3 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422512 139422514 + In_Frame_Del DEL CTG CTG - TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr5:139422512_139422514delCTG ENST00000541337.1 - 1 370_372 c.141_143delCAG c.(139-144)agcagg>agg p.S47del NRG2_ENST00000289422.7_In_Frame_Del_p.S47del|NRG2_ENST00000289409.4_In_Frame_Del_p.S47del|NRG2_ENST00000361474.1_In_Frame_Del_p.S47del|NRG2_ENST00000545385.1_In_Frame_Del_p.S47del|NRG2_ENST00000394770.1_In_Frame_Del_p.S47del|NRG2_ENST00000358522.3_In_Frame_Del_p.S47del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 47 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gctgctgctcctgctgctgctgc 0.700 2 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49433723 49433738 + Frame_Shift_Del DEL TAGTGGGGACAGCCCA TAGTGGGGACAGCCCA - TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:49433723_49433738delTAGTGGGGACAGCCCA ENST00000301067.7 - 31 7814_7829 c.7815_7830delTGGGCTGTCCCCACTA c.(7813-7830)tatgggctgtccccactafs p.YGLSPL2605fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.L2340P(1) ACGGAGGGCGTAGTGGGGACAGCCCATAGCTCTCCC 0.634 18 33 --- --- --- --- RARG 5916 broad.mit.edu 37 12 53608320 53608321 + Frame_Shift_Ins INS - - A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr12:53608320_53608321insA ENST00000425354.2 - 6 1032_1033 c.545_546insT c.(544-546)ctgfs p.L182fs RARG_ENST00000543726.1_Frame_Shift_Ins_p.L160fs|RARG_ENST00000394426.1_Frame_Shift_Ins_p.L182fs|RARG_ENST00000327550.3_Frame_Shift_Ins_p.L110fs|RARG_ENST00000338561.5_Frame_Shift_Ins_p.L171fs|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 182 Hinge. 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) ACTGAGGGCTCAGCTCATAGCT 0.545 24 69 --- --- --- --- SIGLEC6 946 broad.mit.edu 37 19 52023435 52023439 + Frame_Shift_Del DEL CTCAT CTCAT - TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fcca0b3-932e-4e46-b6cc-7df28303c90a 79c3f584-3f68-46cf-bf8d-3cb6806f80b1 g.chr19:52023435_52023439delCTCAT ENST00000346477.3 - 7 1279_1283 c.1211_1215delATGAG c.(1210-1215)gatgagfs p.DE404fs CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.DE368fs|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.DE420fs|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 420 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GGAGCTCCTGCTCATCTTCTGAGAT 0.502 70 213 --- --- --- ---