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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KIF18B 146909 broad.mit.edu 37 17 43008985 43008985 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:43008985C>T uc010wji.2 - 10 1639 c.1538G>A c.(1537-1539)gGg>gAg p.G513E KIF18B_uc002iht.3_Missense_Mutation_p.G513E|KIF18B_uc010wjh.2_Missense_Mutation_p.G501E NM_001080443 NP_001073912 Homo sapiens kinesin family member 18B (KIF18B), mRNA. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) AGAACGGTCCCCATCCAGTTC 0.572000 49 14 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30006059 30006059 + Nonsense_Mutation SNP G C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:30006059G>C uc002dve.3 - 3 898 c.407C>G c.(406-408)tCa>tGa p.S136* BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA. 136 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 AACTGCCTTTGAGGCTCGCCT 0.597000 110 8 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109049257 109049257 + Missense_Mutation SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:109049257T>G uc003kou.1 + 1 1135 c.172T>G c.(172-174)Ttg>Gtg p.L58V NM_002372 NP_002363 Q16706 MA2A1_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA. 58 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AATAGACCATTTGGAGCGTTT 0.378000 48 16 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105420799 105420799 + Missense_Mutation SNP G C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr10:105420799G>C uc010qqu.1 - 4 358 c.291C>G c.(289-291)aaC>aaG p.N97K SH3PXD2A_uc010qqr.2_Missense_Mutation_p.N44K|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.N17K|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.N59K|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.N17K|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.N182K NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA. 182 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.P96P(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TCAGCTCCGAGTTCTCCTGCT 0.627000 133 32 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57134361 57134361 + Missense_Mutation SNP A T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:57134361A>T uc002iwy.4 - 12 1518 c.1074T>A c.(1072-1074)aaT>aaA p.N358K TRIM37_uc002iwz.4_Missense_Mutation_p.N358K|TRIM37_uc002ixa.4_Missense_Mutation_p.N236K|TRIM37_uc010woc.2_Missense_Mutation_p.N324K NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 358 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) CTCGAATGATATTTTTTGTAG 0.343000 Mulibrey Nanism 40 10 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045434 53045434 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:53045434C>T uc001sat.3 - 0 526 c.493G>A c.(493-495)Gtg>Atg p.V165M NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 165 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TCAACTTTCACGTTGAGAGGC 0.522000 79 26 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150076186 150076186 + Missense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:150076186G>A uc003lst.3 - 5 576 c.454C>T c.(454-456)Cgg>Tgg p.R152W NM_018047 NP_060517 Q9NW64 RBM22_HUMAN Homo sapiens RNA binding motif protein 22 (RBM22), mRNA. 152 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding p.R152Q(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGTGGTCCGGGCCAGTTTG 0.507000 43 12 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154133231 154133231 + Missense_Mutation SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chrX:154133231T>C uc004fmt.3 - 15 5612 c.5441A>G c.(5440-5442)gAt>gGt p.D1814G F8_uc010nvi.1_5'UTR NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1814 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGCCTCTGATCTTCCTCATA 0.373000 45 7 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49971706 49971706 + Silent SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:49971706G>A uc002pnt.3 + 14 2123 c.2007G>A c.(2005-2007)ccG>ccA p.P669P ALDH16A1_uc010yar.2_Silent_p.P618P|ALDH16A1_uc010yas.2_Silent_p.P504P|ALDH16A1_uc010yat.2_Silent_p.P506P NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA. 669 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) TGGTGTGTCCGGACGAGTGGC 0.697000 186 19 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18207632 18207632 + Missense_Mutation SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:18207632T>C uc003nco.1 + 8 1129 c.1054T>C c.(1054-1056)Tct>Cct p.S352P KDM1B_uc003ncn.1_Missense_Mutation_p.S323P NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA. 555 SWIRM. multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TTCCCAGGTATCTGCTCGCTC 0.522000 63 6 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43831006 43831006 + Missense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr22:43831006G>A uc011apz.2 + 2 717 c.376G>A c.(376-378)Gtc>Atc p.V126I MPPED1_uc011apv.2_Missense_Mutation_p.V93I|MPPED1_uc011apw.2_5'UTR|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.V93I NM_001044370 NP_001037835 O15442 MPPD1_HUMAN Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA. 93 hydrolase activity p.P125P(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CACCCGCTTCGTCTGCGTCTC 0.652000 117 22 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219100 8219100 + Silent SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:8219100G>A uc002glc.3 + 7 1604 c.1449G>A c.(1447-1449)gtG>gtA p.V483V ARHGEF15_uc002gld.3_Silent_p.V483V|ARHGEF15_uc010vuw.2_Silent_p.V372V NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 483 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TGTCCCGTGTGCGCTCTTCCC 0.572000 27 3 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53664186 53664186 + Nonsense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:53664186C>T uc001sck.2 + 3 1259 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* ESPL1_uc001scj.2_Nonsense_Mutation_p.Q65* NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 390 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTCCAAGCAACAGCAGTCTTT 0.512000 102 26 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58287686 58287686 + Missense_Mutation SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:58287686T>G uc003jsa.2 - 7 1333 c.1161A>C c.(1159-1161)aaA>aaC p.K387N PDE4D_uc003jrx.2_Missense_Mutation_p.K251N|PDE4D_uc003jry.3_Missense_Mutation_p.K85N|PDE4D_uc003jrz.3_Missense_Mutation_p.K323N|PDE4D_uc003jsb.3_Missense_Mutation_p.K326N|PDE4D_uc003jrt.2_Missense_Mutation_p.K85N|PDE4D_uc003jru.3_Missense_Mutation_p.K163N|PDE4D_uc003jrv.2_Missense_Mutation_p.K257N|PDE4D_uc003jrw.2_Missense_Mutation_p.K265N|PDE4D_uc003jrs.2_Missense_Mutation_p.K96N NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA. 387 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CTTGTTCAGTTTTAACTCCAA 0.358000 8 7 0 0 1 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086466 46086466 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:46086466A>G uc002zfu.3 - 0 379 c.338T>C c.(337-339)gTc>gCc p.V113A TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA. 113 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CGCATACACGACAGGCCTGCA 0.632000 72 14 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49511038 49511038 + Silent SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:49511038T>C uc002xvt.1 - 4 558 c.213A>G c.(211-213)acA>acG p.T71T ADNP_uc002xvu.1_Silent_p.T71T NM_015339 NP_852107 Q9H2P0 ADNP_HUMAN Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA. 71 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AGAAAGGTTTTGTCCGATAGT 0.393000 42 8 0 0 1 0 0 ATP6V1G1 9550 broad.mit.edu 37 9 117359956 117359956 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:117359956A>G uc004bjc.3 + 2 415 c.290A>G c.(289-291)gAc>gGc p.D97G NM_004888 NP_004879 O75348 VATG1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1), mRNA. 97 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances endometrium(1)|lung(2)|prostate(1)|skin(1) 5 GAAGTCTTGGACAACCTCTTG 0.502000 30 9 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23933851 23933851 + Missense_Mutation SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chrX:23933851T>C uc004daz.1 + 3 595 c.251T>C c.(250-252)gTg>gCg p.V84A CXorf58_uc011mju.1_Missense_Mutation_p.V84A NM_152761 NP_689974 Q96LI9 CX058_HUMAN Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA. 84 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 CTGAAGAAAGTGGCCCCCTTA 0.358000 22 6 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133491 22133491 + Silent SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:22133491T>C uc010tmd.2 + 0 195 c.195T>C c.(193-195)aaT>aaC p.N65N NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCCTGAGCAATCTGTCCTTTA 0.423000 201 46 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109273432 109273432 + Silent SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:109273432T>G uc001dvx.3 + 8 1761 c.1761T>G c.(1759-1761)acT>acG p.T587T FNDC7_uc010ova.2_Silent_p.T354T NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 588 Fibronectin type-III 7. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGTGTCACACTCATCAAAACC 0.478000 47 12 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47580376 47580376 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:47580376A>G uc002xtx.4 + 6 1000 c.848A>G c.(847-849)gAc>gGc p.D283G NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 283 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGGACTGATGACGGAGCCCAG 0.448000 26 5 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44941192 44941192 + Missense_Mutation SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr15:44941192T>C uc001ztx.3 - 6 1505 c.1474A>G c.(1474-1476)Att>Gtt p.I492V SPG11_uc010ueh.2_Missense_Mutation_p.I492V|SPG11_uc010uei.2_Missense_Mutation_p.I492V|SPG11_uc001zua.1_Missense_Mutation_p.I492V NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 492 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCAAACAAAATCAGAGAGAGT 0.338000 17 7 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45749907 45749907 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr22:45749907A>G uc003bgc.3 - 20 3276 c.3224T>C c.(3223-3225)aTc>aCc p.I1075T SMC1B_uc003bgd.3_Missense_Mutation_p.I1075T NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 1075 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATCAATTGAGATTGAGACATG 0.433000 106 19 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114299424 114299424 + Missense_Mutation SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:114299424C>G uc003vhb.3 + 11 1856 c.1482C>G c.(1480-1482)aaC>aaG p.N494K FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.N519K|FOXP2_uc003vha.3_Missense_Mutation_p.N402K|FOXP2_uc011kmv.2_Missense_Mutation_p.N493K|FOXP2_uc011kmu.2_Missense_Mutation_p.N511K|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Missense_Mutation_p.N64K NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 494 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTGCCCCAAACTATGAATTTT 0.274000 47 12 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134878103 134878103 + Silent SNP C T T rs148472782 byFrequency TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:134878103C>T uc003vsp.2 - 10 1601 c.1539G>A c.(1537-1539)tcG>tcA p.S513S WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.S102S NM_014149 NP_054868 A4D1P6 WDR91_HUMAN Homo sapiens WD repeat domain 91 (WDR91), mRNA. 513 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GAGCTGCTGCCGAACAGACGA 0.622000 52 5 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144220807 144220807 + Missense_Mutation SNP A C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:144220807A>C uc010oxn.1 + 14 1833 c.1793A>C c.(1792-1794)gAt>gCt p.D598A NBPF10_uc010oxo.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Missense_Mutation_p.D515A|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.D271A|NBPF10_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc010oyd.1_Missense_Mutation_p.D27A|NBPF10_uc021otp.1_Missense_Mutation_p.D515A|NBPF10_uc021otu.1_Missense_Mutation_p.D271A NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 869 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGCTGCTGGATGAGAAAGAG 0.483000 85 18 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56487562 56487562 + Missense_Mutation SNP T A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:56487562T>A uc002qmh.3 + 7 2840 c.2769T>A c.(2767-2769)aaT>aaA p.N923K NLRP8_uc010etg.3_Missense_Mutation_p.N904K NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 923 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) TCTGTAAAAATAAAACCCTGA 0.413000 56 9 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121426830 121426830 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:121426830C>T uc001tzg.3 + 1 544 c.521C>T c.(520-522)gCg>gTg p.A174V HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.A174V|HNF1A_uc001tzf.3_Missense_Mutation_p.A174V|HNF1A_uc010szn.2_Missense_Mutation_p.A174V|HNF1A_uc021rfa.1_Missense_Mutation_p.A174V|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 174 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.A174V(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGAGAGGTGGCGCAGCGTAAG 0.612000 Hepatic Adenoma, Familial Clustering of 30 7 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83778132 83778132 + Silent SNP G A A rs149546168 byFrequency TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:83778132G>A uc003hnh.3 - 15 2034 c.1854C>T c.(1852-1854)ttC>ttT p.F618F SEC31A_uc003hne.3_Silent_p.F351F|SEC31A_uc011ccl.2_Silent_p.F579F|SEC31A_uc003hnl.3_Silent_p.F579F|SEC31A_uc003hng.3_Silent_p.F618F|SEC31A_uc011ccm.2_Silent_p.F613F|SEC31A_uc003hni.3_Silent_p.F618F|SEC31A_uc003hnk.3_Silent_p.F579F|SEC31A_uc003hnf.3_Silent_p.F618F|SEC31A_uc011ccn.2_Silent_p.F618F|SEC31A_uc003hnm.3_Silent_p.F618F|SEC31A_uc003hnn.2_Silent_p.F618F NM_014933 NP_055748 O94979 SC31A_HUMAN Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA. 618 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.F618F(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GGGATTTTGCGAAGTATTTTT 0.343000 21 23 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474605 228474605 + Missense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:228474605G>A uc009xez.1 + 34 9453 c.9409G>A c.(9409-9411)Ggg>Agg p.G3137R OBSCN_uc001hsn.3_Missense_Mutation_p.G3137R|OBSCN_uc001hsq.1_Missense_Mutation_p.G393R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3137 Ig-like 31. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACCCTGCGGGGGTCTGCCCG 0.642000 31 5 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240549 39240549 + Missense_Mutation SNP C G G rs151117992 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:39240549C>G uc010wfn.2 + 0 91 c.91C>G c.(91-93)Cag>Gag p.Q31E NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CAGCTGCTGTCAGACCACCTG 0.632000 44 4 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7830986 7830986 + Missense_Mutation SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:7830986T>G uc002gjm.1 - 2 313 c.313A>C c.(313-315)Atc>Ctc p.I105L KCNAB3_uc010vul.1_Non-coding_Transcript NM_004732 NP_004723 O43448 KCAB3_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA. 105 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TCATCTGAGATCTGAGAACCA 0.493000 208 67 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53619556 53619556 + Missense_Mutation SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:53619556C>G uc001xai.3 - 0 491 c.261G>C c.(259-261)gaG>gaC p.E87D DDHD1_uc001xaj.3_Missense_Mutation_p.E87D|DDHD1_uc001xah.3_Missense_Mutation_p.E87D NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA. 87 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AGTCATAGTTCTCGTCACTGA 0.706000 26 3 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131937080 131937080 + Silent SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:131937080A>G uc003qcs.1 - 9 1017 c.843T>C c.(841-843)gaT>gaC p.D281D MED23_uc003qcq.3_Silent_p.D281D|MED23_uc003qct.1_Silent_p.D281D|MED23_uc011ecb.1_Non-coding_Transcript NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 281 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TGCAGACCATATCCCTGGAAT 0.353000 39 3 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16974585 16974585 + RNA SNP C T T rs142060675 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:16974585C>T uc009vow.2 + 4 c.1395C>T MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GAACTTCTGCCGGAACCCCGA 0.662000 73 5 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079275 15079275 + Missense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:15079275G>A uc002naa.1 - 2 395 c.388C>T c.(388-390)Cgg>Tgg p.R130W SLC1A6_uc010dzu.1_Missense_Mutation_p.R130W|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.R130W|SLC1A6_uc002nac.3_Missense_Mutation_p.R130W|SLC1A6_uc002nad.1_Missense_Mutation_p.R130W NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 130 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R130Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ACAGCTGCCCGCATCCCCATC 0.607000 16 6 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38152483 38152483 + Silent SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:38152483C>G uc002htn.1 + 9 1532 c.1368C>G c.(1366-1368)ggC>ggG p.G456G PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.G357G NM_002809 NP_002800 O43242 PSMD3_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA. 456 PCI. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|regulation of protein catabolic process|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) ACGAGAAGGGCTATGTCCAAT 0.527000 114 37 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48594763 48594763 + Silent SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:48594763T>C uc002efp.3 - 1 2028 c.1791A>G c.(1789-1791)cgA>cgG p.R597R NM_153029 NP_694574 O75113 N4BP1_HUMAN Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA. 597 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination PML body|nucleolus breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TTAGAGTATCTCGAAACCTTT 0.428000 50 10 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55284920 55284920 + Missense_Mutation SNP C A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:55284920C>A uc010erz.1 + 2 244 c.206C>A c.(205-207)aCt>aAt p.T69N KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.T69N NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 69 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TTTAACGACACTTTGCGCCTC 0.517000 79 12 2.61681e-11 2.77074e-11 1 1 0 SLC25A3 5250 broad.mit.edu 37 12 98992445 98992445 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:98992445C>T uc001tfo.3 + 4 728 c.608C>T c.(607-609)gCa>gTa p.A203V SLC25A3_uc001tfm.3_Missense_Mutation_p.A202V|SLC25A3_uc001tfn.3_Missense_Mutation_p.A202V|SLC25A3_uc001tfp.3_Missense_Mutation_p.A202V|SLC25A3_uc001tfq.3_Missense_Mutation_p.A72V|SLC25A3_uc001tfr.3_Missense_Mutation_p.A203V|SLC25A3_uc001tfs.3_Missense_Mutation_p.A159V|SNORA53_uc001tfu.1_5'Flank NM_005888 NP_005879 Q00325 MPCP_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 203 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) TTGAGGGATGCAGCTCCCAAA 0.388000 22 8 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681869 69681869 + Silent SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:69681869A>G uc003hee.3 + 0 157 c.132A>G c.(130-132)gaA>gaG p.E44E UGT2B10_uc011cam.2_Silent_p.E44E NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 44 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCCTGAAAGAACTTGTTCAGA 0.423000 91 4 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240111 27240111 + Missense_Mutation SNP A T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:27240111A>T uc001bnf.3 - 0 457 c.321T>A c.(319-321)ttT>ttA p.F107L BC016143_uc021ojq.1_Intron NM_021969 NP_068804 Q15466 NR0B2_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA. 107 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CAGCCACCTCAAAGGTCACAG 0.647000 21 6 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751332 19751332 + Missense_Mutation SNP C A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr13:19751332C>A uc009zzj.3 - 3 896 c.791G>T c.(790-792)cGc>cTc p.R264L NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 264 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.R264H(2) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAAGTGGATGCGGGGGTACGG 0.612000 48 29 7.11191e-15 7.71171e-15 1 1 0 HS3ST3A1 9955 broad.mit.edu 37 17 13503870 13503870 + Missense_Mutation SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:13503870C>G uc002gob.1 - 0 1375 c.577G>C c.(577-579)Gac>Cac p.D193H NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA. 193 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGGCCCTTGTCGTAGCTGCGG 0.726000 4 3 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95479763 95479763 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:95479763C>T uc003ygk.3 - 1 136 c.5G>A c.(4-6)aGa>aAa p.R2K RAD54B_uc003ygl.2_Non-coding_Transcript|RAD54B_uc003ygn.2_Missense_Mutation_p.R2K NM_012415 NP_001192192 O95073 FSBP_HUMAN Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA. 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.M1I(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TGCAGATCGTCTCATATTCAG 0.378000 Direct reversal of damage;Homologous recombination 140 8 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12292703 12292703 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:12292703A>G uc003nae.4 + 1 528 c.194A>G c.(193-195)tAc>tGc p.Y65C EDN1_uc010jpb.3_Missense_Mutation_p.Y65C|EDN1_uc003nad.3_Missense_Mutation_p.Y65C|EDN1_uc003naf.4_Missense_Mutation_p.Y64C NM_001955 NP_001946 P05305 EDN1_HUMAN Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA. 65 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GAGTGTGTCTACTTCTGCCAC 0.582000 73 21 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46262832 46262832 + Silent SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:46262832C>T uc002xtk.3 + 9 1266 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NCOA3_uc002xtl.3_Silent_p.F335F|NCOA3_uc002xtn.3_Silent_p.F335F|NCOA3_uc010ght.2_Silent_p.F345F|NCOA3_uc002xtm.3_Silent_p.F335F|NCOA3_uc010zyc.2_Silent_p.F130F NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 335 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATATCGATTCTCGTTGGCTG 0.413000 94 20 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:29625941A>T uc010ztl.1 + 1 127 c.95A>T c.(94-96)gAt>gTt p.D32V FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.D62V(2)|p.A32T(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 61 4 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43321836 43321836 + Silent SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:43321836C>T uc002yzw.3 - 11 1697 c.1455G>A c.(1453-1455)tcG>tcA p.S485S C2CD2_uc002yzs.3_5'UTR|C2CD2_uc002yzt.3_Silent_p.S101S|C2CD2_uc002yzu.3_Silent_p.S317S|C2CD2_uc002yzv.3_Silent_p.S330S|C2CD2_uc002yzx.1_Silent_p.S330S NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 485 cytosol|extracellular region|nucleus p.S485P(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CCACTGGATCCGAACCATTCA 0.428000 44 8 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123339674 123339674 + Splice_Site SNP A C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:123339674A>C uc001udj.1 + 10 911 c.852_splice c.e10+1 p.E284_splice HIP1R_uc001udg.1_Splice_Site_p.E272_splice|HIP1R_uc001udi.1_Splice_Site_p.E284_splice|HIP1R_uc001udk.1_5'Flank NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 284 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CGGCTGCCCGAGGTACCACCC 0.637000 64 24 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726072 53726072 + Silent SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:53726072G>A uc002ehp.3 - 3 499 c.435C>T c.(433-435)taC>taT p.Y145Y RPGRIP1L_uc002eho.4_Silent_p.Y145Y|RPGRIP1L_uc010vgy.2_Silent_p.Y145Y|RPGRIP1L_uc010cbx.3_Silent_p.Y145Y|RPGRIP1L_uc010vgz.1_Silent_p.Y145Y|RPGRIP1L_uc002ehq.1_Silent_p.Y145Y NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 145 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GAGTTTGCCTGTAACCCTGGG 0.398000 104 50 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150468960 150468960 + Missense_Mutation SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:150468960C>G uc001euq.3 + 7 784 c.777C>G c.(775-777)aaC>aaG p.N259K TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 259 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TCACACAGAACTCATCATCCT 0.493000 143 21 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90311961 90311961 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:90311961C>T uc004apc.3 + 21 2591 c.2453C>T c.(2452-2454)cCt>cTt p.P818L DAPK1_uc004apd.3_Missense_Mutation_p.P818L|DAPK1_uc011ltg.2_Intron|DAPK1_uc011lth.2_Missense_Mutation_p.P555L NM_004938 NP_004929 P53355 DAPK1_HUMAN Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA. 818 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCTGGAAATCCTGTGTATTTC 0.393000 Chronic Lymphocytic Leukemia, Familial Clustering of 127 12 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29207480 29207480 + Missense_Mutation SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:29207480T>C uc003xhm.3 - 0 788 c.316A>G c.(316-318)Atc>Gtc p.I106V DUSP4_uc003xhl.3_5'Flank NM_001394 NP_001385 Q13115 DUS4_HUMAN Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA. 106 Rhodanese. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TCGTAGACGATGACCGCCGAG 0.736000 6 4 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103867814 103867814 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:103867814A>G uc003hww.3 - 4 657 c.515T>C c.(514-516)cTc>cCc p.L172P SLC9B1_uc003hwu.3_Missense_Mutation_p.L172P|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 172 integral to membrane solute:hydrogen antiporter activity CTGTGGATCGAGTCCAAGCCC 0.348000 52 22 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136269951 136269951 + Missense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:136269951G>A uc004cdk.3 + 16 1832 c.1771G>A c.(1771-1773)Ggc>Agc p.G591S C9orf96_uc004cdl.3_Non-coding_Transcript NM_153710 NP_714921 Q8NE28 SGK71_HUMAN Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA. 591 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGAGGAGGGCGGCAGTGGCCT 0.632000 91 19 0 0 1 0 0 NDUFS8 4728 broad.mit.edu 37 11 67803764 67803764 + Silent SNP G T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr11:67803764G>T uc001onc.3 + 5 534 c.417G>T c.(415-417)cgG>cgT p.R139R NDUFS8_uc009ysb.2_Non-coding_Transcript|TCIRG1_uc001ond.2_5'Flank|TCIRG1_uc001one.3_5'Flank NM_002496 NP_002487 O00217 NDUS8_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) (NDUFS8), nuclear gene encoding mitochondrial protein, mRNA. 139 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) GCAGCCGCCGGACCACCCGCT 0.662000 13 4 0.000602214 0.000615901 1 1 0 C2CD2 25966 broad.mit.edu 37 21 43319241 43319241 + Silent SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:43319241G>A uc002yzw.3 - 12 2033 c.1791C>T c.(1789-1791)gtC>gtT p.V597V C2CD2_uc002yzs.3_Silent_p.V66V|C2CD2_uc002yzt.3_Silent_p.V213V|C2CD2_uc002yzu.3_Silent_p.V429V|C2CD2_uc002yzv.3_Silent_p.V442V NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 597 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 GGTCCAGCAGGACCTGGCTGC 0.637000 74 4 0 0 1 0 0 ABHD5 51099 broad.mit.edu 37 3 43756543 43756543 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr3:43756543A>G uc003cmx.3 + 4 876 c.766A>G c.(766-768)Act>Gct p.T256A NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA. 256 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TAATGTGCAGACTCCAAGGTG 0.393000 68 13 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784630 82784630 + Nonsense_Mutation SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:82784630G>A uc003uhx.2 - 1 1616 c.1327C>T c.(1327-1329)Cag>Tag p.Q443* PCLO_uc003uhv.2_Nonsense_Mutation_p.Q443* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 394 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. A -> T (in Ref. 4; CAB60727). cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCCCAGGCTGCTGAACTGGA 0.592000 74 15 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918233 65918233 + Silent SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr15:65918233T>C uc010ujf.2 + 1 2102 c.1815T>C c.(1813-1815)caT>caC p.H605H SLC24A1_uc010ujd.1_Silent_p.H605H|SLC24A1_uc010uje.1_Silent_p.H605H|SLC24A1_uc010ujg.2_Silent_p.H605H|SLC24A1_uc010ujh.2_Silent_p.H605H NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 605 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGAACAAGCATATCGAGGTCT 0.542000 99 6 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:66499680C>A uc004aee.1 + 0 490 c.490C>A c.(490-492)Ccc>Acc p.P164T X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). TCATGTTAACCCCTTCCCAGG 0.582000 23 5 0.184627 0.184627 1 1 0 STK16 8576 broad.mit.edu 37 2 220112399 220112399 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:220112399C>T uc002vko.2 + 5 734 c.577C>T c.(577-579)Cgg>Tgg p.R193W GLB1L_uc002vkm.3_5'Flank|GLB1L_uc002vkn.3_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.R75W|STK16_uc010zky.2_3'UTR|STK16_uc010fwf.3_Missense_Mutation_p.R193W|STK16_uc002vkp.2_Missense_Mutation_p.R193W NM_001008910 NP_001008910 O75716 STK16_HUMAN Homo sapiens serine/threonine kinase 16 (STK16), transcript variant 1, mRNA. 193 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGCCCAGCGGTGCACCAT 0.587000 11 4 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151785727 151785727 + Missense_Mutation SNP A G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:151785727A>G uc001ezh.3 - 7 1270 c.1162T>C c.(1162-1164)Ttc>Ctc p.F388L RORC_uc001ezg.3_Missense_Mutation_p.F367L|RORC_uc010pdo.2_Missense_Mutation_p.F442L|RORC_uc010pdp.2_Intron NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 388 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAGGCTCGGAACAGCTCCATG 0.562000 398 7 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847482 83847482 + Missense_Mutation SNP A T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:83847482A>T uc011dyy.2 + 20 3954 c.3694A>T c.(3694-3696)Att>Ttt p.I1232F DOPEY1_uc003pjs.1_Missense_Mutation_p.I1241F|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1232F|DOPEY1_uc003pjt.3_Non-coding_Transcript NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 1241 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTCACCTTGTATTTCAGGAAC 0.428000 65 14 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240560 39240560 + Silent SNP T C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:39240560T>C uc010wfn.2 + 0 102 c.102T>C c.(100-102)tgT>tgC p.C34C NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. p.C34C(3) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 AGACCACCTGTTGCAGGACCA 0.647000 46 4 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4017708 4017708 + Missense_Mutation SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:4017708T>G uc002fxe.3 - 3 815 c.751A>C c.(751-753)Aag>Cag p.K251Q ZZEF1_uc002fxk.1_Missense_Mutation_p.K251Q NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 251 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCATAGCACTTTGCTACTGAC 0.438000 50 23 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239253162 239253162 + Nonsense_Mutation SNP C G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:239253162C>G uc002vye.3 + 8 1303 c.1184C>G c.(1183-1185)tCa>tGa p.S395* TRAF3IP1_uc002vyf.3_Intron NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA. 395 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AATATTAACTCAACTAGTATT 0.403000 22 8 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520479 33520479 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:33520479C>T uc002hjd.2 - 0 934 c.848G>A c.(847-849)tGc>tAc p.C283Y NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 283 DUF6 2. integral to membrane TAGGACAGCGCACACCAGGGC 0.582000 88 29 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164781303 164781303 + Missense_Mutation SNP T G G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr3:164781303T>G uc003fei.3 - 7 897 c.834A>C c.(832-834)caA>caC p.Q278H NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 278 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAAGAATGTTTGATGGCCGT 0.239000 HNSCC(35;0.089) 66 14 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132166 15132166 + Splice_Site SNP G A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:15132166G>A uc002nae.2 + 4 974 c.875_splice c.e4-1 p.A292_splice NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 292 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CATTTGCAGCGTGCGCCTTGG 0.617000 31 4 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209102 71209102 + Missense_Mutation SNP C A A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:71209102C>A uc001xmm.3 - 5 1533 c.1533G>T c.(1531-1533)aaG>aaT p.K511N MAP3K9_uc010ttk.2_Missense_Mutation_p.K248N|MAP3K9_uc001xmk.3_Missense_Mutation_p.K205N|MAP3K9_uc001xml.3_Missense_Mutation_p.K511N NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 511 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CATCCTTGAGCTTCAGCCGGC 0.592000 90 19 4.35082e-09 4.50084e-09 1 1 0 DDAH2 23564 broad.mit.edu 37 6 31696023 31696023 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:31696023C>T uc003nwp.3 - 3 1149 c.518G>A c.(517-519)cGc>cAc p.R173H DDAH2_uc003nwq.3_Missense_Mutation_p.R173H NM_013974 NP_039268 O95865 DDAH2_HUMAN Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA. 173 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) GCAGAGACCGCGCAGGTGGGA 0.672000 39 7 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523393 100523393 + Missense_Mutation SNP C A A rs146761003 TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:100523393C>A uc003yiv.3 + 28 4472 c.4361C>A c.(4360-4362)aCa>aAa p.T1454K VPS13B_uc003yiw.3_Missense_Mutation_p.T1429K|VPS13B_uc003yix.1_Missense_Mutation_p.T924K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1454 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGACATACACAAAAGCTGTA 0.378000 83 14 9.05144e-12 9.69797e-12 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518628 113518628 + Missense_Mutation SNP C T T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:113518628C>T uc010ljy.1 - 3 2550 c.2519G>A c.(2518-2520)gGa>gAa p.G840E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 840 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTTATATTTCCAGTGCCACA 0.373000 128 27 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133732769 133732769 + Missense_Mutation SNP A C C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:133732769A>C uc009zzb.3 + 4 1384 c.937A>C c.(937-939)Aag>Cag p.K313Q ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.K313Q NM_015394 NP_056209 P21506 ZNF10_HUMAN Homo sapiens zinc finger protein 10 (ZNF10), mRNA. 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGGACATCAAAAGACCCATAC 0.418000 54 16 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3313064 3313064 + Frame_Shift_Del DEL A - - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:3313064delA uc001akf.3 + 4 665 c.583delA c.(583-585)aaafs p.K195fs PRDM16_uc001ake.3_Frame_Shift_Del_p.K195fs|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Frame_Shift_Del_p.K195fs NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 195 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.Y194C(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GATTTACTATAAAGTCATTAA 0.557 T EVI1 """MDS, AML""" --- 4 --- --- 2 --- TAF1B 9014 broad.mit.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A - - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:9989571delA uc002qzz.3 + 2 287 c.187delA c.(187-189)aaafs p.K63fs TAF1B_uc010exc.2_Frame_Shift_Del_p.K63fs|TAF1B_uc002qzy.4_Frame_Shift_Del_p.K63fs|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA. 63 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.K63fs*1(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCGGGGGCTTAAAAAAAAAAA 0.333 --- 8 --- --- 4 --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC - - rs11277659 TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:131241030_131241035delGGCGAC uc003vqw.4 - 0 342_347 c.84_89delGTCGCC c.(82-90)ccgtcgccc>ccc p.28_30PSP>P PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(4) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 --- 4 --- --- 2 --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G - - rs78710112 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:29628226delG uc010ztl.1 + 3 171 c.139_splice c.e3-1 p.G47_splice FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 --- 127 --- --- 7 --- RPS26P11 441502 broad.mit.edu 37 X 71264810 71264810 + Splice_Site DEL A - - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chrX:71264810delA uc004eai.3 + 1 c.553_splice c.e1+1 NHSL2_uc011mqa.2_Intron Homo sapiens ribosomal protein S26 pseudogene 11 (RPS26P11), non-coding RNA. endometrium(1)|lung(1)|prostate(2) 4 AATTGTACTTAAAAAAAAAAA 0.448 --- 4 --- --- 2 ---