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 GJB4 127534 broad.mit.edu 37 1 35226994 35226994 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:35226994G>A ENST00000339480.1 + 2 509 c.139G>A c.(139-141)Gag>Aag p.E47K NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 47 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GTGGGACGATGAGCAGAAGGA 0.592000 7 15 0 0 0.003080 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870214 51870214 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:51870214C>G ENST00000371497.5 + 2 1104 c.217C>G c.(217-219)Cat>Gat p.H73D TSHZ2_ENST00000329613.6_Missense_Mutation_p.H70D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H70D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 73 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCAGGAAGTCATTTGTCCAA 0.547000 21 53 0 0 0.003330 0 0 FSTL5 56884 broad.mit.edu 37 4 162376239 162376239 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:162376239G>C ENST00000306100.5 - 15 2194 c.1758C>G c.(1756-1758)atC>atG p.I586M FSTL5_ENST00000536695.1_Missense_Mutation_p.I585M|FSTL5_ENST00000427802.2_Missense_Mutation_p.I576M|FSTL5_ENST00000379164.4_Missense_Mutation_p.I585M NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 586 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GTTGGGTGTGGATCGTGTGGT 0.443000 12 20 0 0 0.002450 0 0 HNF4G 3174 broad.mit.edu 37 8 76465285 76465285 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:76465285C>T ENST00000396423.2 + 5 592 c.468C>T c.(466-468)gtC>gtT p.V156V HNF4G_ENST00000354370.1_Silent_p.V119V NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 119 endocrine pancreas development|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 breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGATCTCAGTCTCAAGCCCTG 0.348000 9 39 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179606343 179606343 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:179606343C>T ENST00000589042.1 - 48 11841 c.11617G>A c.(11617-11619)Gat>Aat p.D3873N TTN_ENST00000342175.6_Missense_Mutation_p.D3702N|TTN_ENST00000591111.1_Missense_Mutation_p.D3556N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3510N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3635N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3556 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) CTATGATCATCACCGTCAAAA 0.403000 26 70 0 0 0.003330 0 0 SIM1 6492 broad.mit.edu 37 6 100838847 100838847 + Missense_Mutation SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:100838847A>C ENST00000369208.3 - 12 2473 c.1691T>G c.(1690-1692)aTt>aGt p.I564S SIM1_ENST00000262901.4_Missense_Mutation_p.I564S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 564 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAGAGTTTCAATTTTGCTGGG 0.463000 16 99 0 0 0.006122 0 0 OR2A2 442361 broad.mit.edu 37 7 143807379 143807379 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:143807379A>T ENST00000408979.2 + 1 773 c.704A>T c.(703-705)aAg>aTg p.K235M NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGCCGCATAAAGGCCTTCTCC 0.522000 31 116 0 0 0.008361 0 0 PDZD4 57595 broad.mit.edu 37 X 153070073 153070073 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:153070073G>T ENST00000164640.4 - 8 1236 c.1045C>A c.(1045-1047)Ctc>Atc p.L349I PDZD4_ENST00000544474.1_Missense_Mutation_p.L240I|PDZD4_ENST00000393758.2_Missense_Mutation_p.L274I NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 349 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCATCCGTGAGGCCCGGGACG 0.677000 8 38 0.000274275 0.000370035 0.004482 1 0 CNGB1 1258 broad.mit.edu 37 16 57954428 57954428 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:57954428G>A ENST00000564448.1 - 19 1706 c.1646C>T c.(1645-1647)tCc>tTc p.S549F CNGB1_ENST00000251102.8_Missense_Mutation_p.S555F Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 555 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCTGGCCGTGGAGGCCGCACG 0.607000 18 37 0 0 0.008871 0 0 AKT1S1 84335 broad.mit.edu 37 19 50375081 50375081 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:50375081C>T ENST00000391833.1 - 2 2434 c.445G>A c.(445-447)Gag>Aag p.E149K AKT1S1_ENST00000391831.1_Missense_Mutation_p.E149K|AKT1S1_ENST00000391835.1_Missense_Mutation_p.E169K|AKT1S1_ENST00000391834.2_Missense_Mutation_p.E149K|AKT1S1_ENST00000344175.5_Missense_Mutation_p.E149K|AKT1S1_ENST00000391832.3_Missense_Mutation_p.E149K NM_001278160.1 NP_001265089.1 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 149 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TCTGTACTCTCGGGGTCTGAC 0.617000 29 91 0 0 0.002836 0 0 MARCH7 64844 broad.mit.edu 37 2 160605020 160605020 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:160605020G>C ENST00000259050.3 + 5 1341 c.1219G>C c.(1219-1221)Gat>Cat p.D407H MARCH7_ENST00000539065.1_Missense_Mutation_p.D351H|MARCH7_ENST00000409591.1_Missense_Mutation_p.D369H|MARCH7_ENST00000409175.1_Missense_Mutation_p.D407H NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 407 Ser-rich. ligase activity|zinc ion binding p.D407Y(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AGAGGGAAGAGATGAATCTTC 0.393000 16 51 0 0 0.003163 0 0 APOL1 8542 broad.mit.edu 37 22 36661519 36661519 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr22:36661519G>C ENST00000319136.4 + 7 952 c.685G>C c.(685-687)Gag>Cag p.E229Q APOL1_ENST00000397278.3_Missense_Mutation_p.E213Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.E213Q|APOL1_ENST00000426053.1_Missense_Mutation_p.E195Q|APOL1_ENST00000397279.4_Missense_Mutation_p.E213Q|APOL1_ENST00000347595.7_Missense_Mutation_p.E92Q NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 213 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ACCTGGGATGGAGTTGGGAAT 0.567000 27 63 0 0 0.005443 0 0 TG 7038 broad.mit.edu 37 8 133909924 133909924 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:133909924C>T ENST00000220616.4 + 12 3072 c.3032C>T c.(3031-3033)tCc>tTc p.S1011F TG_ENST00000377869.1_Missense_Mutation_p.S1011F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1011 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CGCCGCTTTTCCCCGGACGAC 0.577000 35 263 0 0 0.003271 0 0 OR4K17 390436 broad.mit.edu 37 14 20586261 20586261 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:20586261C>T ENST00000315543.4 + 1 696 c.696C>T c.(694-696)gcC>gcT p.A232A NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TCATTGTTGCCAACAGTGGCA 0.408000 22 53 0 0 0.001523 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6114572 6114572 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:6114572C>T ENST00000409021.3 - 2 455 c.6G>A c.(4-6)tcG>tcA p.S2S JAKMIP1_ENST00000409371.3_Silent_p.S2S|JAKMIP1_ENST00000282924.5_Silent_p.S2S|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Silent_p.S2S|JAKMIP1_ENST00000409831.1_Silent_p.S2S NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 2 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGCCTTTCTTCGACATGCTTC 0.632000 11 36 0 0 0.000978 0 0 STXBP4 252983 broad.mit.edu 37 17 53218710 53218710 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:53218710G>A ENST00000376352.2 + 17 1736 c.1529G>A c.(1528-1530)gGa>gAa p.G510E STXBP4_ENST00000434978.2_Missense_Mutation_p.G488E NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 510 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 ACAGCAGATGGAATCAAGTAC 0.358000 36 47 0 0 0.003610 0 0 ZNF70 7621 broad.mit.edu 37 22 24087275 24087275 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr22:24087275C>A ENST00000341976.3 - 2 513 c.53G>T c.(52-54)aGg>aTg p.R18M NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 18 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TGACTCTAACCTGTTCTCAAA 0.458000 18 41 5.35267e-07 7.81065e-07 0.007413 1 0 KIAA1524 57650 broad.mit.edu 37 3 108308151 108308151 + Silent SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:108308151C>G ENST00000295746.8 - 1 148 c.72G>C c.(70-72)gcG>gcC p.A24A KIAA1524_ENST00000487834.1_5'UTR NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 24 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGTGGCGTTCGCCTCTGACT 0.587000 6 53 0 0 0.004482 0 0 PAX8 7849 broad.mit.edu 37 2 113999249 113999249 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:113999249G>T ENST00000429538.3 - 7 850 c.656C>A c.(655-657)cCc>cAc p.P219H AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.P219H|PAX8_ENST00000263335.7_Missense_Mutation_p.P219H|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P219H|PAX8_ENST00000397647.3_Missense_Mutation_p.P219H|AC016683.6_ENST00000451179.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 219 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 GTGCTTTCGGGGTCCGCTGCT 0.597000 T PPARG follicular thyroid Thyroid dysgenesis 13 48 0.00185496 0.0024293 0.001855 1 0 INPP4B 8821 broad.mit.edu 37 4 143324110 143324110 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:143324110T>A ENST00000513000.1 - 8 786 c.353A>T c.(352-354)aAg>aTg p.K118M INPP4B_ENST00000308502.4_Missense_Mutation_p.K118M|INPP4B_ENST00000506217.1_Missense_Mutation_p.K118M|INPP4B_ENST00000262992.4_Missense_Mutation_p.K118M|INPP4B_ENST00000508116.1_Missense_Mutation_p.K118M|INPP4B_ENST00000509777.1_Missense_Mutation_p.K118M NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 118 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AGACTTATCCTTGACATCATA 0.393000 8 48 0 0 0.004482 0 0 CCM2 83605 broad.mit.edu 37 7 45113931 45113931 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:45113931C>A ENST00000475551.1 + 9 1720 c.960C>A c.(958-960)cgC>cgA p.R320R CCM2_ENST00000258781.6_Silent_p.R326R|CCM2_ENST00000544363.1_Silent_p.R235R|CCM2_ENST00000474617.1_Silent_p.R229R|CCM2_ENST00000381112.3_Silent_p.R347R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Silent_p.R268R Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 326 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 ACGAGTACCGCAATGGGGCCT 0.602000 27 22 2.48779e-11 3.96275e-11 0.005443 1 0 GPR63 81491 broad.mit.edu 37 6 97246991 97246991 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:97246991G>A ENST00000229955.3 - 2 962 c.617C>T c.(616-618)tCc>tTc p.S206F GPR63_ENST00000417980.1_Missense_Mutation_p.S206F NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 206 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) TACACAAAAGGAAGTTGCCCA 0.463000 28 104 0 0 0.004656 0 0 OR5P2 120065 broad.mit.edu 37 11 7818472 7818472 + Silent SNP G G A rs140666195 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:7818472G>A ENST00000329434.2 - 1 48 c.18C>T c.(16-18)gaC>gaT p.D6D RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGTGATTCCCGTCCTTCAGGG 0.418000 5 44 0 0 0.001984 0 0 RET 5979 broad.mit.edu 37 10 43596062 43596062 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:43596062C>T ENST00000355710.3 + 2 461 c.229C>T c.(229-231)Cgc>Tgc p.R77C RET_ENST00000340058.5_Missense_Mutation_p.R77C NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 77 R -> C (in HSCR1). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CGGCACGTACCGCACACGGCT 0.647000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 12 38 0 0 0.001368 0 0 SALL4 57167 broad.mit.edu 37 20 50408136 50408136 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:50408136G>A ENST00000217086.4 - 2 997 c.886C>T c.(886-888)Cac>Tac p.H296Y SALL4_ENST00000395997.3_Missense_Mutation_p.H296Y|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 296 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGTTGGCGTGAGGTAGCTTG 0.597000 23 14 0 0 0.004656 0 0 AARD 441376 broad.mit.edu 37 8 117950508 117950508 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:117950508G>T ENST00000378279.3 + 1 71 c.26G>T c.(25-27)tGc>tTc p.C9F NM_001025357.2 NP_001020528.1 Q4LEZ3 AARD_HUMAN alanine and arginine rich domain containing protein 9 TTCCGCCGCTGCAGAGAGAGA 0.622000 6 60 3.59834e-05 5.01683e-05 0.001168 1 0 ABCA10 10349 broad.mit.edu 37 17 67218773 67218773 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:67218773C>T ENST00000269081.4 - 5 1009 c.100G>A c.(100-102)Gaa>Aaa p.E34K ABCA10_ENST00000432313.2_Missense_Mutation_p.E34K|ABCA10_ENST00000423818.2_Missense_Mutation_p.E34K|ABCA10_ENST00000416101.2_Missense_Mutation_p.E34K NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 34 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CCCACCATTTCATGGTATTTT 0.353000 45 127 0 0 0.003610 0 0 HTR7 3363 broad.mit.edu 37 10 92617025 92617025 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:92617025A>T ENST00000371721.3 - 1 646 c.404T>A c.(403-405)aTg>aAg p.M135K HTR7_ENST00000371719.2_Missense_Mutation_p.M135K|HTR7_ENST00000277874.6_Missense_Mutation_p.M135K|HTR7_ENST00000336152.3_Missense_Mutation_p.M135K P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 135 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GACGAAGGGCATGACCGCCAC 0.597000 8 52 0 0 0.004482 0 0 IGSF10 285313 broad.mit.edu 37 3 151161220 151161220 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:151161220C>A ENST00000282466.3 - 5 5514 c.5515G>T c.(5515-5517)Gca>Tca p.A1839S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1839 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGGTGCTGCAATGACTTGT 0.473000 39 16 4.92203e-23 8.93098e-23 0.006230 1 0 DNAH3 55567 broad.mit.edu 37 16 20996594 20996594 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:20996594G>A ENST00000261383.3 - 48 7469 c.7470C>T c.(7468-7470)ctC>ctT p.L2490L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2490 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTCGGCGAAGAGGAACACGG 0.502000 9 36 0 0 0.006214 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28116421 28116421 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:28116421G>T ENST00000330236.6 + 2 420 c.236G>T c.(235-237)tGg>tTg p.W79L ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W79L NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 TGCCATCAGTGGCTGAGGCCA 0.562000 41 41 2.2871e-25 4.29946e-25 0.007835 1 0 MPPED1 758 broad.mit.edu 37 22 43901455 43901455 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr22:43901455C>A ENST00000417669.1 + 7 1384 c.940C>A c.(940-942)Ccg>Acg p.P314T MPPED1_ENST00000414469.2_Missense_Mutation_p.P208T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P347T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P314T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P156T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P314T O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 314 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCCGTGAACCCGCCCATAGT 0.627000 8 9 0.00307968 0.00399975 0.003080 1 0 GDPD5 81544 broad.mit.edu 37 11 75146633 75146633 + Silent SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:75146633A>G ENST00000526177.1 - 13 3201 c.1323T>C c.(1321-1323)taT>taC p.Y441Y GDPD5_ENST00000529721.1_Silent_p.Y579Y|GDPD5_ENST00000336898.3_Silent_p.Y579Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.Y460Y|GDPD5_ENST00000533805.1_Silent_p.Y334Y|GDPD5_ENST00000376282.3_Silent_p.Y460Y Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 579 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TGCTGTTGGCATATGTGTCAT 0.582000 33 38 0 0 0.002445 0 0 DNAH17 8632 broad.mit.edu 37 17 76557934 76557934 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:76557934C>T ENST00000389840.5 - 12 1822 c.1698G>A c.(1696-1698)caG>caA p.Q566Q DNAH17_ENST00000585328.1_Silent_p.Q566Q dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGCCGCCATCTGGGCATCGT 0.592000 25 26 0 0 0.003954 0 0 TNN 63923 broad.mit.edu 37 1 175086162 175086162 + Missense_Mutation SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:175086162A>G ENST00000239462.4 + 10 2320 c.2207A>G c.(2206-2208)gAc>gGc p.D736G NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 736 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCACCATTGACAGGTATGTG 0.592000 24 46 0 0 0.003330 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444362 5444362 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:5444362T>A ENST00000300778.4 + 1 1022 c.932T>A c.(931-933)cTc>cAc p.L311H AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCCTTTCCCTCAAAAATATG 0.393000 14 22 0 0 0.002450 0 0 BRAP 8315 broad.mit.edu 37 12 112103546 112103546 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:112103546T>C ENST00000419234.4 - 6 986 c.793A>G c.(793-795)Acg>Gcg p.T265A BRAP_ENST00000539060.1_Missense_Mutation_p.T86A|BRAP_ENST00000327551.6_Missense_Mutation_p.T235A NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 265 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 AGACACACCGTGCACTTGGGG 0.527000 25 33 0 0 0.003954 0 0 OR51F2 119694 broad.mit.edu 37 11 4842711 4842711 + Silent SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:4842711A>T ENST00000322110.5 + 1 161 c.96A>T c.(94-96)ccA>ccT p.P32P MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGCATTCCAGGCCTGAAAG 0.478000 43 215 0 0 0.002852 0 0 NAT10 55226 broad.mit.edu 37 11 34144053 34144053 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:34144053G>A ENST00000257829.3 + 9 1034 c.828G>A c.(826-828)ctG>ctA p.L276L NAT10_ENST00000531159.2_Silent_p.L204L|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 276 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AAAAGACCCTGAGGAGTACTG 0.507000 23 74 0 0 0.006320 0 0 IL22RA2 116379 broad.mit.edu 37 6 137468969 137468969 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:137468969G>C ENST00000296980.2 - 6 832 c.532C>G c.(532-534)Ctc>Gtc p.L178V IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Missense_Mutation_p.L146V NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 178 Fibronectin type-III 3. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) GGAGCATGGAGAATTACCAAC 0.294000 30 56 0 0 0.004878 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777145 6777145 + RNA SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:6777145G>A ENST00000486256.1 + 0 1272 NR_002217.1 GGGGACAGGGGCTCGCAGGAA 0.567000 25 90 0 0 0.003954 0 0 CNTN5 53942 broad.mit.edu 37 11 100170065 100170065 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:100170065G>A ENST00000524871.1 + 20 2847 c.2557G>A c.(2557-2559)Gtt>Att p.V853I CNTN5_ENST00000528682.1_Missense_Mutation_p.V853I|CNTN5_ENST00000527185.1_Missense_Mutation_p.V853I|CNTN5_ENST00000279463.3_Missense_Mutation_p.V853I|CNTN5_ENST00000418526.2_Missense_Mutation_p.V779I|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 853 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAAAGTTGGCGTTTATAACAA 0.368000 17 51 0 0 0.001882 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744567 140744567 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140744567G>A ENST00000518069.1 + 1 670 c.670G>A c.(670-672)Ggc>Agc p.G224S PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTACTCTCCGGCACCACGCA 0.577000 18 45 0 0 0.006122 0 0 GRM1 2911 broad.mit.edu 37 6 146351145 146351145 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:146351145C>A ENST00000392299.2 + 2 962 c.492C>A c.(490-492)tcC>tcA p.S164S GRM1_ENST00000507907.1_Silent_p.S164S|GRM1_ENST00000282753.1_Silent_p.S164S|GRM1_ENST00000492807.2_Silent_p.S164S|GRM1_ENST00000361719.2_Silent_p.S164S|GRM1_ENST00000355289.4_Silent_p.S164S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 164 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTCCCGGCTCCAGCTCTGTAG 0.567000 28 53 3.73988e-18 6.57631e-18 0.006320 1 0 OR12D3 81797 broad.mit.edu 37 6 29342228 29342228 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:29342228G>T ENST00000396806.3 - 1 840 c.837C>A c.(835-837)gcC>gcA p.A279A OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CAGGGGTGACGGCGCTATACA 0.453000 34 32 1.36615e-20 2.42957e-20 0.002836 1 0 GJB5 2709 broad.mit.edu 37 1 35222995 35222995 + Missense_Mutation SNP C C A rs116644255 byFrequency TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:35222995C>A ENST00000338513.1 + 2 237 c.64C>A c.(64-66)Cgc>Agc p.R22S NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 22 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) AGCCTTTGGGCGCATCTGGCT 0.562000 8 33 0.000274275 0.000370035 0.004482 1 0 OR5L2 26338 broad.mit.edu 37 11 55595344 55595344 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:55595344C>A ENST00000378397.1 + 1 650 c.650C>A c.(649-651)tCc>tAc p.S217Y NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 217 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) ATCCTCACCTCCTACCTGCTA 0.498000 HNSCC(27;0.073) 39 82 6.29468e-14 1.04245e-13 0.004878 1 0 DMKN 93099 broad.mit.edu 37 19 35990868 35990868 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:35990868G>C ENST00000339686.3 - 13 1527 c.1351C>G c.(1351-1353)Cct>Gct p.P451A DMKN_ENST00000429837.1_Missense_Mutation_p.P424A|DMKN_ENST00000492341.2_Missense_Mutation_p.P98A|DMKN_ENST00000414866.2_Missense_Mutation_p.P164A|DMKN_ENST00000408915.2_Missense_Mutation_p.P65A|DMKN_ENST00000419602.1_Missense_Mutation_p.P440A|DMKN_ENST00000402589.2_Missense_Mutation_p.P178A|DMKN_ENST00000480502.1_Missense_Mutation_p.P159A|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000467637.1_Missense_Mutation_p.P176A|DMKN_ENST00000443640.1_Missense_Mutation_p.P228A|DMKN_ENST00000602781.1_Missense_Mutation_p.P178A|DMKN_ENST00000472252.2_Missense_Mutation_p.P98A|DMKN_ENST00000436012.1_Missense_Mutation_p.P147A NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 451 extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACCTTTGCAGGGGTCTTGACT 0.572000 22 57 0 0 0.001882 0 0 KIF3B 9371 broad.mit.edu 37 20 30898135 30898135 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:30898135G>A ENST00000375712.3 + 2 722 c.555G>A c.(553-555)aaG>aaA p.K185K NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 185 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTGTCACCAAGAGTGTGAAGG 0.483000 33 50 0 0 0.002836 0 0 PIWIL4 143689 broad.mit.edu 37 11 94308235 94308235 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:94308235C>G ENST00000299001.6 + 3 448 c.237C>G c.(235-237)gaC>gaG p.D79E RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 79 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACAAACAGGACTTTATGGATT 0.353000 16 21 0 0 0.003163 0 0 AXDND1 126859 broad.mit.edu 37 1 179460779 179460779 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:179460779G>T ENST00000367618.3 + 19 2585 c.2198G>T c.(2197-2199)aGt>aTt p.S733I AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 733 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GAGGAGGAAAGTGCTGAGAAA 0.418000 26 24 2.79863e-10 4.34726e-10 0.004656 1 0 VCAN 1462 broad.mit.edu 37 5 82817885 82817885 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:82817885T>A ENST00000265077.3 + 7 4325 c.3760T>A c.(3760-3762)Tca>Aca p.S1254T VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S1206T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S1254T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1254 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CATTGGAGAATCAACATCTCA 0.443000 25 50 0 0 0.003954 0 0 TUBA3D 113457 broad.mit.edu 37 2 132236883 132236883 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:132236883G>A ENST00000321253.6 + 3 336 c.229G>A c.(229-231)Gaa>Aaa p.E77K TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 77 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) TTTTGCAGATGAAGTGCGCAC 0.507000 42 116 0 0 0.003214 0 0 FGD5 152273 broad.mit.edu 37 3 14861684 14861684 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:14861684C>A ENST00000285046.5 + 1 1216 c.1106C>A c.(1105-1107)gCg>gAg p.A369E FGD5_ENST00000543601.1_Missense_Mutation_p.A128E NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 369 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCTGAATCAGCGAAAGGTTTA 0.557000 17 36 1.15088e-07 1.71128e-07 0.004007 1 0 SLC6A18 348932 broad.mit.edu 37 5 1243760 1243760 + Missense_Mutation SNP G G T rs138053797 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:1243760G>T ENST00000324642.3 + 9 1345 c.1222G>T c.(1222-1224)Ggg>Tgg p.G408W SLC6A18_ENST00000296821.4_Missense_Mutation_p.G337W NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 408 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCTCTTCTTCGGGATGCTGTT 0.642000 13 58 8.60227e-14 1.41711e-13 0.004007 1 0 GBA 2629 broad.mit.edu 37 1 155205005 155205005 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:155205005C>T ENST00000428024.2 - 9 1727 c.1225G>A c.(1225-1227)Gtt>Att p.V409I GBA_ENST00000427500.2_Missense_Mutation_p.V447I|GBA_ENST00000327247.5_Missense_Mutation_p.V496I|GBA_ENST00000368373.3_Missense_Mutation_p.V496I|GBA_ENST00000536770.1_Missense_Mutation_p.V383I NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 496 N -> S (in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C and membranes and thereby reduces enzyme activity; mild). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) ACGACCACAACAGCAGAGCCA 0.587000 Gaucher disease type I 9 107 0 0 0.006214 0 0 TMEM255B 348013 broad.mit.edu 37 13 114514710 114514710 + Splice_Site SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:114514710C>T ENST00000375353.3 + 9 842 c.813_splice c.e9-1 p.P272_splice TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B TTATTGCAGCCCTGCAGCCGC 0.652000 14 14 0 0 0.004990 0 0 THSD7B 80731 broad.mit.edu 37 2 138330082 138330082 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:138330082G>A ENST00000409968.1 + 17 3557 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K THSD7B_ENST00000413152.2_Missense_Mutation_p.E1099K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1130K|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGTCCCAATGAGTGTGTCAT 0.463000 14 72 0 0 0.002450 0 0 FRG1B 284802 broad.mit.edu 37 20 29632621 29632621 + Nonsense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:29632621C>T ENST00000278882.3 + 8 816 c.436C>T c.(436-438)Cag>Tag p.Q146* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.Q146* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAAGAAATTTCAGAGCTTCCA 0.289000 20 395 0 0 0.003330 0 0 EFNB2 1948 broad.mit.edu 37 13 107165024 107165024 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:107165024C>A ENST00000245323.4 - 2 408 c.259G>T c.(259-261)Gac>Tac p.D87Y NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 87 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GTGCATCTGTCTGCTTGGTCT 0.373000 26 50 3.28513e-13 5.35544e-13 0.003954 1 0 JAG1 182 broad.mit.edu 37 20 10622246 10622246 + Silent SNP G G A rs147793030 byFrequency TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:10622246G>A ENST00000254958.5 - 23 3293 c.2778C>T c.(2776-2778)ttC>ttT p.F926F JAG1_ENST00000423891.2_Silent_p.F767F NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 926 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 AGGGGTGGACGAAGCACTGGT 0.612000 Alagille Syndrome 19 43 0 0 0.006122 0 0 GRIA4 2893 broad.mit.edu 37 11 105775936 105775936 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:105775936G>T ENST00000393127.2 + 9 1513 c.1067G>T c.(1066-1068)gGg>gTg p.G356V GRIA4_ENST00000282499.5_Missense_Mutation_p.G356V|GRIA4_ENST00000525187.1_Missense_Mutation_p.G356V|GRIA4_ENST00000530497.1_Missense_Mutation_p.G356V|GRIA4_ENST00000428631.2_Missense_Mutation_p.G356V|GRIA4_ENST00000393125.2_Missense_Mutation_p.G356V NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 356 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) CGAATTCAAGGGCTGACAGGG 0.403000 16 50 6.49762e-13 1.0565e-12 0.006122 1 0 CACNA1C 775 broad.mit.edu 37 12 2797755 2797755 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:2797755G>T ENST00000399655.1 + 46 6192 c.5927G>T c.(5926-5928)gGg>gTg p.G1976V CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1984V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2001V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1982V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2011V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1984V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2017V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1993V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2047V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1995V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2004V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1995V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G2024V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2047V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1995V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1996V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2011V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1976V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2059 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGGCTTGAGGGGGTCGAGTCC 0.692000 45 63 1.81118e-26 3.45671e-26 0.003610 1 0 ZFPM2 23414 broad.mit.edu 37 8 106811019 106811019 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:106811019G>T ENST00000407775.2 + 7 1057 c.807G>T c.(805-807)ttG>ttT p.L269F RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L137F|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L137F NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 269 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGGCCCATTTGATGTACTACT 0.507000 64 58 3.84483e-29 7.40574e-29 0.003610 1 0 KDM5C 8242 broad.mit.edu 37 X 53245159 53245159 + Splice_Site SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:53245159C>G ENST00000452825.3 - 5 1113 c.e5-1 KDM5C_ENST00000404049.3_Splice_Site|KDM5C_ENST00000375379.3_Splice_Site|KDM5C_ENST00000375383.3_Splice_Site|KDM5C_ENST00000375401.3_Splice_Site NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CCCTCCTTATCTGGGAGAGAG 0.547000 """N, F, S""" clear cell renal carcinoma 31 47 0 0 0.008361 0 0 GPR162 27239 broad.mit.edu 37 12 6933468 6933468 + Missense_Mutation SNP T T G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:6933468T>G ENST00000311268.3 + 2 1191 c.404T>G c.(403-405)cTg>cGg p.L135R GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 135 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 AAGCAGGCACTGCATGCCGTC 0.627000 21 71 0 0 0.002299 0 0 KIAA1715 80856 broad.mit.edu 37 2 176803080 176803080 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:176803080G>T ENST00000272748.4 - 11 1091 c.844C>A c.(844-846)Cat>Aat p.H282N KIAA1715_ENST00000544803.1_Missense_Mutation_p.H313N|KIAA1715_ENST00000535310.1_Missense_Mutation_p.H207N NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 282 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ATGCCATTATGAGAAAAACAC 0.318000 23 120 1.1804e-14 1.97574e-14 0.003954 1 0 CHAMP1 283489 broad.mit.edu 37 13 115090647 115090647 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:115090647G>T ENST00000361283.1 + 3 1639 c.1330G>T c.(1330-1332)Ggg>Tgg p.G444W NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 444 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAAACCCTCAGGGTCACCAGA 0.547000 41 92 2.86225e-05 3.99949e-05 0.005524 1 0 PPM1H 57460 broad.mit.edu 37 12 63042377 63042377 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:63042377C>A ENST00000228705.6 - 10 1737 c.1437G>T c.(1435-1437)cgG>cgT p.R479R PPM1H_ENST00000551214.1_5'UTR NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 479 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TCAGCACACCCCGGGCACGCA 0.517000 19 53 8.00594e-06 1.13903e-05 0.007413 1 0 PTPN21 11099 broad.mit.edu 37 14 88945335 88945335 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:88945335G>A ENST00000556564.1 - 13 2724 c.2440C>T c.(2440-2442)Ctg>Ttg p.L814L PTPN21_ENST00000328736.3_Silent_p.L814L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 814 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTTTTCTTCAGAGAGTCCCTC 0.667000 8 56 0 0 0.006214 0 0 NTRK3 4916 broad.mit.edu 37 15 88669506 88669506 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:88669506C>T ENST00000394480.1 - 13 1713 c.1392G>A c.(1390-1392)atG>atA p.M464I NTRK3_ENST00000360948.2_Missense_Mutation_p.M464I|NTRK3_ENST00000558676.1_Missense_Mutation_p.M456I|NTRK3_ENST00000542733.2_Missense_Mutation_p.M366I|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.M464I|NTRK3_ENST00000540489.2_Missense_Mutation_p.M464I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M456I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M456I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M464I NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 464 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTTACCCTTCATTCCAAATT 0.438000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 10 24 0 0 0.008291 0 0 CDR1 1038 broad.mit.edu 37 X 139866217 139866217 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:139866217G>T ENST00000370532.2 - 1 506 c.315C>A c.(313-315)ttC>ttA p.F105L NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 105 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GGTCTTCCAGGAAATCCGTGT 0.448000 28 126 2.44723e-14 4.08524e-14 0.004656 1 0 NIPAL4 348938 broad.mit.edu 37 5 156895786 156895786 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:156895786G>T ENST00000311946.7 + 4 693 c.577G>T c.(577-579)Gtc>Ttc p.V193F NIPAL4_ENST00000435489.2_Missense_Mutation_p.V174F|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 193 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TGCAACAGTCGTCACGCCTCT 0.507000 34 60 1.36161e-19 2.41465e-19 0.004289 1 0 RECQL 5965 broad.mit.edu 37 12 21636379 21636379 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:21636379T>A ENST00000444129.2 - 6 1099 c.631A>T c.(631-633)Agg>Tgg p.R211W RECQL_ENST00000421138.2_Missense_Mutation_p.R211W NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 211 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 GTAAATCTCCTTGCTTCATAG 0.363000 Other identified genes with known or suspected DNA repair function 22 31 0 0 0.002299 0 0 FGD4 121512 broad.mit.edu 37 12 32764101 32764101 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:32764101G>A ENST00000427716.2 + 10 1646 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K FGD4_ENST00000534526.2_Missense_Mutation_p.E545K|FGD4_ENST00000531134.1_Missense_Mutation_p.E493K|FGD4_ENST00000266482.3_Missense_Mutation_p.E160K|FGD4_ENST00000546442.1_Missense_Mutation_p.E315K|FGD4_ENST00000525053.1_Missense_Mutation_p.E520K|FGD4_ENST00000381025.3_Missense_Mutation_p.E160K NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 408 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AGAGATTTATGAAATGTTGGG 0.368000 15 60 0 0 0.004990 0 0 FAM84A 151354 broad.mit.edu 37 2 14774244 14774244 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:14774244C>A ENST00000295092.2 + 2 429 c.141C>A c.(139-141)cgC>cgA p.R47R FAM84A_ENST00000331243.4_Silent_p.R47R NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 47 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) TGGACGAACGCGGGCAGCCCG 0.667000 8 19 5.18039e-06 7.42088e-06 0.003080 1 0 OR2H1 26716 broad.mit.edu 37 6 29430054 29430054 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:29430054C>A ENST00000377136.1 + 4 973 c.508C>A c.(508-510)Cag>Aag p.Q170K OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.Q170K|OR2H1_ENST00000377132.1_Missense_Mutation_p.Q170K|OR2H1_ENST00000396792.2_Missense_Mutation_p.Q170K|OR2H1_ENST00000442615.1_Missense_Mutation_p.Q170K Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CTGTCCCCACCAGCAGATAGA 0.522000 101 143 4.04957e-52 7.99695e-52 0.003610 1 0 COL22A1 169044 broad.mit.edu 37 8 139890292 139890292 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:139890292G>T ENST00000303045.6 - 3 805 c.359C>A c.(358-360)gCg>gAg p.A120E COL22A1_ENST00000435777.1_Missense_Mutation_p.A120E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 120 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTAGCGGAGCGCGTCTCCCGT 0.706000 HNSCC(7;0.00092) 5 15 0.00116845 0.00154314 0.001168 1 0 NYAP1 222950 broad.mit.edu 37 7 100086413 100086413 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:100086413C>T ENST00000423930.1 + 4 1228 c.1069C>T c.(1069-1071)Cta>Tta p.L357L NYAP1_ENST00000300179.2_Silent_p.L357L|NYAP1_ENST00000454988.1_Silent_p.L300L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 357 Pro-rich. GGTCTCAAGGCTACCTGTCCT 0.697000 93 43 0 0 0.003610 0 0 TOMM20L 387990 broad.mit.edu 37 14 58863044 58863044 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:58863044G>A ENST00000360945.2 + 2 207 c.165G>A c.(163-165)gaG>gaA p.E55E NM_207377.2 NP_997260.1 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast)-like 55 protein targeting integral to membrane|mitochondrial outer membrane translocase complex large_intestine(2)|lung(2) 4 AAAAGGCTGAGGAGCAGGGCA 0.652000 8 19 0 0 0.004482 0 0 PER2 8864 broad.mit.edu 37 2 239186426 239186426 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:239186426C>G ENST00000254657.3 - 2 431 c.152G>C c.(151-153)cGg>cCg p.R51P PER2_ENST00000440245.1_Missense_Mutation_p.R51P|PER2_ENST00000355768.2_Missense_Mutation_p.R51P|PER2_ENST00000254658.3_Missense_Mutation_p.R51P NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 51 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CTGCGAGTCCCGCCCCGTGGA 0.642000 15 58 0 0 0.004990 0 0 OR2G3 81469 broad.mit.edu 37 1 247769570 247769570 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:247769570T>C ENST00000320002.2 + 1 715 c.683T>C c.(682-684)aTc>aCc p.I228T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGCTGAGGATCAAATCAGTA 0.443000 17 27 0 0 0.004990 0 0 FAM214A 56204 broad.mit.edu 37 15 52901305 52901305 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:52901305C>T ENST00000261844.7 - 6 1958 c.1806G>A c.(1804-1806)caG>caA p.Q602Q FAM214A_ENST00000546305.2_Silent_p.Q609Q NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 602 AACTTTTGTTCTGTGTCTCCT 0.328000 36 61 0 0 0.006230 0 0 FSTL5 56884 broad.mit.edu 37 4 162841712 162841712 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:162841712C>T ENST00000306100.5 - 4 689 c.253G>A c.(253-255)Gca>Aca p.A85T FSTL5_ENST00000536695.1_Missense_Mutation_p.A84T|FSTL5_ENST00000427802.2_Missense_Mutation_p.A84T|FSTL5_ENST00000379164.4_Missense_Mutation_p.A84T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 85 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GCACATTCTGCTTGCCCTGTC 0.453000 21 15 0 0 0.002780 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775797 77775797 + Nonsense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:77775797C>T ENST00000521891.2 + 11 10295 c.9847C>T c.(9847-9849)Cag>Tag p.Q3283* ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q3257*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q3234*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q3238* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3234 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGAACAGTGCAGGGGGGATA 0.527000 HNSCC(33;0.089) 20 129 0 0 0.001882 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75737656 75737656 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:75737656G>A ENST00000312442.2 + 2 404 c.358G>A c.(358-360)Gaa>Aaa p.E120K CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.E120K NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 120 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 TTGGTATAATGAAACCCAATT 0.333000 25 17 0 0 0.003954 0 0 CDR1 1038 broad.mit.edu 37 X 139866216 139866216 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:139866216G>T ENST00000370532.2 - 1 507 c.316C>A c.(316-318)Ctg>Atg p.L106M NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 106 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GGGTCTTCCAGGAAATCCGTG 0.448000 29 127 1.77063e-15 2.98764e-15 0.005443 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100491164 100491164 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:100491164G>A ENST00000279907.7 - 6 860 c.648C>T c.(646-648)atC>atT p.I216I UHRF1BP1L_ENST00000356828.3_Silent_p.I216I NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 216 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTGACTCTGATTTTTGATT 0.338000 14 23 0 0 0.001855 0 0 PBK 55872 broad.mit.edu 37 8 27678139 27678139 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:27678139C>G ENST00000301905.4 - 6 1001 c.538G>C c.(538-540)Gaa>Caa p.E180Q PBK_ENST00000522944.1_Missense_Mutation_p.E180Q NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 180 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) TTAATTGTTTCAAAATCGCCT 0.289000 6 61 0 0 0.003080 0 0 F8 2157 broad.mit.edu 37 X 154250791 154250791 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:154250791G>A ENST00000360256.4 - 1 237 c.37C>T c.(37-39)Ctt>Ttt p.L13F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 13 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) AATCGCAAAAGGCACAGAAAG 0.428000 22 120 0 0 0.001882 0 0 ACE 1636 broad.mit.edu 37 17 61562265 61562265 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61562265C>T ENST00000577647.1 + 1 82 c.37C>T c.(37-39)Ctc>Ttc p.L13F ACE_ENST00000490216.2_Missense_Mutation_p.L13F|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Missense_Mutation_p.L13F|ACE_ENST00000290863.6_Missense_Mutation_p.L13F|ACE_ENST00000290866.4_Intron P12821 ACE_HUMAN angiotensin I converting enzyme 0 arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACTTCCCAGCCTCCTCTTCCT 0.647000 4 14 0 0 0.000602 0 0 ROS1 6098 broad.mit.edu 37 6 117609682 117609682 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:117609682G>A ENST00000368508.3 - 43 7215 c.7017C>T c.(7015-7017)caC>caT p.H2339H ROS1_ENST00000368507.3_Silent_p.H2333H NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2339 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CATATCCACTGTGAGTGAGAC 0.433000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 30 13 0 0 0.007291 0 0 C1orf111 284680 broad.mit.edu 37 1 162344230 162344230 + Nonsense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:162344230C>A ENST00000367935.4 - 3 473 c.394G>T c.(394-396)Gag>Tag p.E132* RP11-565P22.6_ENST00000431696.1_Intron NM_182581.3 NP_872387.2 Q5T0L3 CA111_HUMAN chromosome 1 open reading frame 111 132 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) GCCATGTCCTCAGAAAGGCAG 0.552000 56 352 3.76997e-23 6.86046e-23 0.003610 1 0 MAGEC3 139081 broad.mit.edu 37 X 140985061 140985061 + Missense_Mutation SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:140985061A>C ENST00000298296.1 + 7 1517 c.1517A>C c.(1516-1518)gAg>gCg p.E506A MAGEC3_ENST00000443323.2_Missense_Mutation_p.E128A|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E208A|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E208A|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E208A NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 506 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTCATAGAGCTAATTTTT 0.443000 49 189 0 0 0.003610 0 0 OCA2 4948 broad.mit.edu 37 15 28195693 28195693 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:28195693G>C ENST00000382996.2 - 19 2078 c.1969C>G c.(1969-1971)Caa>Gaa p.Q657E OCA2_ENST00000354638.3_Intron|OCA2_ENST00000353809.5_Intron Q04671 P_HUMAN oculocutaneous albinism II 657 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) CTGCCAGCTTGAACCAAGCCC 0.438000 Oculocutaneous Albinism 4 12 0 0 0.000248 0 0 HECTD1 25831 broad.mit.edu 37 14 31613401 31613401 + Silent SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:31613401T>C ENST00000399332.1 - 17 3182 c.2694A>G c.(2692-2694)gtA>gtG p.V898V HECTD1_ENST00000553700.1_Silent_p.V898V NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 898 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCTTCAAAAGTACAATTAGGT 0.313000 10 33 0 0 0.000978 0 0 GPR156 165829 broad.mit.edu 37 3 119912216 119912216 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:119912216G>A ENST00000464295.1 - 4 734 c.289C>T c.(289-291)Ctc>Ttc p.L97F GPR156_ENST00000315843.3_Missense_Mutation_p.L97F|GPR156_ENST00000461057.1_Missense_Mutation_p.L97F Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 97 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CTGTAAGTGAGACAACTGCCC 0.433000 51 26 0 0 0.003610 0 0 LCT 3938 broad.mit.edu 37 2 136575399 136575399 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:136575399C>A ENST00000264162.2 - 6 1229 c.1219G>T c.(1219-1221)Ggg>Tgg p.G407W NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 407 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGCTCACCCCTCTCCCACCC 0.617000 66 78 4.09171e-25 7.66889e-25 0.003610 1 0 KRT39 390792 broad.mit.edu 37 17 39122876 39122876 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:39122876G>C ENST00000355612.2 - 1 268 c.233C>G c.(232-234)gCc>gGc p.A78G AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 78 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGAAAAACGGGCATTGAAGTT 0.512000 38 171 0 0 0.004289 0 0 CSH2 1443 broad.mit.edu 37 17 61949552 61949552 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61949552C>A ENST00000392886.2 - 5 739 c.588G>T c.(586-588)atG>atT p.M196I CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 196 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CGACCTTGTCCATGTCCTTCC 0.562000 245 50 5.15866e-114 1.03173e-113 0.003610 1 0 SRBD1 55133 broad.mit.edu 37 2 45829179 45829179 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:45829179C>T ENST00000263736.4 - 3 186 c.124G>A c.(124-126)Gag>Aag p.E42K NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 42 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TTTTGGGGCTCCCAGGCACTA 0.453000 30 89 0 0 0.002096 0 0 TMEM144 55314 broad.mit.edu 37 4 159162747 159162747 + Missense_Mutation SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:159162747A>G ENST00000296529.6 + 11 1409 c.889A>G c.(889-891)Ata>Gta p.I297V TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 297 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CAGTTTTCCAATAATCACTGC 0.393000 19 78 0 0 0.006122 0 0 NEUROD2 4761 broad.mit.edu 37 17 37762784 37762784 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:37762784G>T ENST00000302584.4 - 2 289 c.69C>A c.(67-69)gaC>gaA p.D23E NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 23 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) CGTCTTCGCCGTCGCCCCAGC 0.771000 4 7 0.00024832 0.000339407 0.000248 1 0 OGT 8473 broad.mit.edu 37 X 70787518 70787518 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:70787518G>A ENST00000373719.3 + 20 2975 c.2758G>A c.(2758-2760)Gtc>Atc p.V920I OGT_ENST00000373701.3_Missense_Mutation_p.V910I NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 920 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCTGGCTGATGTCTGCTTGGA 0.522000 17 19 0 0 0.004007 0 0 CXorf61 203413 broad.mit.edu 37 X 115592960 115592960 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:115592960G>T ENST00000371894.4 - 2 436 c.290C>A c.(289-291)aCt>aAt p.T97N NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 97 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 GCTAAGTAGAGTATGTTCCAG 0.423000 35 103 1.61788e-16 2.77477e-16 0.002445 1 0 LLGL1 3996 broad.mit.edu 37 17 18138449 18138449 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:18138449G>T ENST00000316843.4 + 10 1203 c.1107G>T c.(1105-1107)ctG>ctT p.L369L NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 369 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AAGAGGAGCTGGTGGTGCTGG 0.647000 27 11 2.48779e-11 3.96275e-11 0.005443 1 0 OR10A2 341276 broad.mit.edu 37 11 6891224 6891224 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:6891224C>T ENST00000307322.4 + 1 301 c.239C>T c.(238-240)tCc>tTc p.S80F NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACAACCATCTCCTTCCTTGGC 0.493000 57 86 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90406094 90406094 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:90406094G>A ENST00000369393.3 - 60 9483 c.9368C>T c.(9367-9369)tCa>tTa p.S3123L MDN1_ENST00000428876.1_Missense_Mutation_p.S3123L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3123 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCTGCTACTGAAGAGATAGC 0.493000 10 63 0 0 0.000978 0 0 CYLD 1540 broad.mit.edu 37 16 50815257 50815257 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:50815257G>T ENST00000540145.1 + 10 2034 c.1619G>T c.(1618-1620)aGg>aTg p.R540M CYLD_ENST00000568704.2_Intron|CYLD_ENST00000311559.9_Missense_Mutation_p.R540M|CYLD_ENST00000566206.1_Missense_Mutation_p.R537M|CYLD_ENST00000569418.1_Missense_Mutation_p.R537M|CYLD_ENST00000398568.2_Missense_Mutation_p.R537M|CYLD_ENST00000564326.1_Missense_Mutation_p.R537M|CYLD_ENST00000427738.3_Missense_Mutation_p.R540M Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 540 Interaction with IKBKG/NEMO.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AAGAGCTGCAGGCCTGACTCT 0.478000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 13 33 2.61681e-11 4.14715e-11 0.002450 1 0 GSG1L 146395 broad.mit.edu 37 16 27802705 27802705 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:27802705C>T ENST00000380898.2 - 8 1120 c.571G>A c.(571-573)Ggg>Agg p.G191R GSG1L_ENST00000447459.2_Missense_Mutation_p.G328R|GSG1L_ENST00000380897.3_Missense_Mutation_p.G173R|GSG1L_ENST00000569166.1_Missense_Mutation_p.G191R|GSG1L_ENST00000395724.3_Missense_Mutation_p.G277R Q6UXU4 GSG1L_HUMAN GSG1-like 328 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 ACCCAGTGCCCCAAGACCCAG 0.657000 17 24 0 0 0.006122 0 0 LMF1 64788 broad.mit.edu 37 16 920844 920844 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:920844C>T ENST00000262301.11 - 8 1135 c.1117G>A c.(1117-1119)Gtc>Atc p.V373I LMF1_ENST00000399843.2_Missense_Mutation_p.V373I|LMF1_ENST00000543238.1_Missense_Mutation_p.V136I|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.V156I NM_022773.2 NP_073610.2 Q96S06 LMF1_HUMAN lipase maturation factor 1 373 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) GCCAGCAGGACGCCCAGCGAG 0.642000 4 18 0 0 0.000248 0 0 GATA2 2624 broad.mit.edu 37 3 128205123 128205123 + Silent SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:128205123A>T ENST00000341105.2 - 3 649 c.318T>A c.(316-318)tcT>tcA p.S106S GATA2_ENST00000430265.2_Silent_p.S106S|GATA2_ENST00000487848.1_Silent_p.S106S NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 106 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CCGCAGCGGCAGAGAGGGCTG 0.692000 Mis AML(CML blast transformation) 11 6 0 0 0.008291 0 0 KLHL1 57626 broad.mit.edu 37 13 70293595 70293595 + Nonsense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:70293595C>A ENST00000377844.4 - 9 2680 c.1921G>T c.(1921-1923)Gga>Tga p.G641* KLHL1_ENST00000545028.1_Nonsense_Mutation_p.G448* NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 641 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTGGCCACTCCGACACCCCCT 0.448000 18 45 5.35267e-07 7.81065e-07 0.007413 1 0 MAGEB1 4112 broad.mit.edu 37 X 30268895 30268895 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:30268895G>T ENST00000378981.3 + 4 606 c.285G>T c.(283-285)caG>caT p.Q95H MAGEB1_ENST00000397548.2_Missense_Mutation_p.Q95H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.Q95H NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 95 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 GTTTCTCCCAGGCCACAACAT 0.512000 7 17 8.12818e-05 0.00011183 0.001984 1 0 EFHC1 114327 broad.mit.edu 37 6 52288818 52288818 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:52288818G>C ENST00000371068.5 + 2 241 c.138G>C c.(136-138)ggG>ggC p.G46G EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Silent_p.G27G NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 46 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CAACAGTTGGGATAGGCGGAG 0.498000 17 57 0 0 0.008871 0 0 ZEB1 6935 broad.mit.edu 37 10 31799672 31799672 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:31799672C>A ENST00000446923.2 + 5 896 c.505C>A c.(505-507)Ctg>Atg p.L169M ZEB1_ENST00000542815.3_Missense_Mutation_p.L118M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L186M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L185M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L165M NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 185 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CTTTACCTCTCTGAAAGAACA 0.353000 5 36 0.000602214 0.000805526 0.000602 1 0 APBB3 10307 broad.mit.edu 37 5 139938171 139938171 + Nonstop_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:139938171T>A ENST00000357560.4 - 13 1903 c.1460A>T c.(1459-1461)tAa>tTa p.*487L APBB3_ENST00000354402.5_Nonstop_Mutation_p.*494L|APBB3_ENST00000356738.2_Nonstop_Mutation_p.*492L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Nonstop_Mutation_p.*264L|APBB3_ENST00000412920.3_Nonstop_Mutation_p.*485L 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 0 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) CAGATAAGTTTAGGGCATATG 0.537000 48 101 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 34105703 34105703 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:34105703G>T ENST00000389232.4 + 74 10495 c.10425G>T c.(10423-10425)tgG>tgT p.W3475C RYR3_ENST00000415757.3_Missense_Mutation_p.W3470C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3475 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) AGGCCGTCTGGCACAAACTGT 0.512000 32 61 2.09667e-21 3.73935e-21 0.003755 1 0 TIMD4 91937 broad.mit.edu 37 5 156378711 156378711 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:156378711G>A ENST00000274532.2 - 3 547 c.491C>T c.(490-492)cCa>cTa p.P164L TIMD4_ENST00000407087.3_Missense_Mutation_p.P164L NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 164 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGTGCAGCTGGGGTTGTTGT 0.532000 73 143 0 0 0.003610 0 0 TRPS1 7227 broad.mit.edu 37 8 116426582 116426582 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:116426582C>A ENST00000395715.3 - 7 4131 c.3554G>T c.(3553-3555)aGa>aTa p.R1185I TRPS1_ENST00000220888.5_Missense_Mutation_p.R1172I|TRPS1_ENST00000520276.1_Missense_Mutation_p.R1176I|TRPS1_ENST00000519076.1_Missense_Mutation_p.R926I NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1172 Transcriptional repressor domain (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGCCCAGGTCTGGAATGCTT 0.438000 Langer-Giedion syndrome 13 80 4.3838e-07 6.47231e-07 0.001855 1 0 TDO2 6999 broad.mit.edu 37 4 156840990 156840990 + Splice_Site SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:156840990G>T ENST00000536354.2 + 12 1133 c.1067_splice c.e12-1 p.D357_splice NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 357 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TTTTTCCAGTGATAGGTACAA 0.299000 8 20 5.4927e-09 8.30539e-09 0.004482 1 0 ZFHX4 79776 broad.mit.edu 37 8 77616945 77616945 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:77616945G>T ENST00000521891.2 + 2 1070 c.622G>T c.(622-624)Gat>Tat p.D208Y ZFHX4_ENST00000518282.1_Missense_Mutation_p.D208Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D208Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D208Y|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 208 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATTTACAGCCGATCAGGCTTT 0.463000 HNSCC(33;0.089) 39 27 3.61848e-18 6.38075e-18 0.007835 1 0 ERN2 10595 broad.mit.edu 37 16 23706081 23706081 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:23706081C>T ENST00000256797.4 - 17 2380 c.2212G>A c.(2212-2214)Gag>Aag p.E738K ERN2_ENST00000457008.2_Missense_Mutation_p.E638K NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 690 Protein kinase. A -> V (in Ref. 1; BAB21297). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGCAGAAGCTCGGGCGCCATC 0.642000 8 12 0 0 0.004482 0 0 EGLN3 112399 broad.mit.edu 37 14 34400412 34400412 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:34400412C>A ENST00000250457.3 - 2 695 c.367G>T c.(367-369)Gct>Tct p.A123S EGLN3_ENST00000553215.1_Missense_Mutation_p.A29S NM_022073.3 NP_071356.1 Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 123 Fe2OG dioxygenase. apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) GGATAGCAAGCCACCATTGCC 0.483000 15 51 1.49906e-05 2.10879e-05 0.002450 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685540 125685540 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:125685540G>T ENST00000371126.1 - 1 1294 c.1052C>A c.(1051-1053)aCa>aAa p.T351K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 351 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CCGCACGCCTGTGCCACCCTC 0.617000 28 32 3.73148e-12 6.02037e-12 0.007291 1 0 CENPN 55839 broad.mit.edu 37 16 81061790 81061790 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:81061790C>T ENST00000305850.5 + 10 1615 c.825C>T c.(823-825)ttC>ttT p.F275F CENPN_ENST00000428963.2_Silent_p.F241F|CENPN_ENST00000439957.3_Silent_p.F255F|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA|CENPN_ENST00000393335.3_Silent_p.F275F NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 275 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 AAACGAAATTCAAAAGTGGTT 0.343000 4 18 0 0 0.000248 0 0 F8 2157 broad.mit.edu 37 X 154225359 154225359 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:154225359G>T ENST00000360256.4 - 3 477 c.277C>A c.(277-279)Cct>Act p.P93T NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 93 F5/8 type A 1.|Plastocyanin-like 1. 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) TGGATGGTAGGACCTAGCAGA 0.448000 44 211 8.01111e-26 1.51968e-25 0.002522 1 0 HEPHL1 341208 broad.mit.edu 37 11 93808443 93808443 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:93808443G>T ENST00000315765.9 + 9 1616 c.1608G>T c.(1606-1608)ctG>ctT p.L536L NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 536 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTCCCTGTCTGACCTATCTTT 0.502000 12 18 3.07112e-06 4.42977e-06 0.000978 1 0 SSPO 23145 broad.mit.edu 37 7 149493573 149493573 + RNA SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:149493573C>G ENST00000378016.2 + 0 6649 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGATGTCCCCCTGCAGGTGGA 0.662000 27 42 0 0 0.005443 0 0 BRWD3 254065 broad.mit.edu 37 X 79962959 79962959 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:79962959G>C ENST00000373275.4 - 22 2735 c.2519C>G c.(2518-2520)cCt>cGt p.P840R BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 840 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTCAACAACAGGATCCTCTAC 0.343000 6 22 0 0 0.003080 0 0 ERGIC2 51290 broad.mit.edu 37 12 29498439 29498439 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:29498439C>A ENST00000360150.4 - 11 837 c.762G>T c.(760-762)gtG>gtT p.V254V NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 254 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) GTTTTGTTGGCACAACTGTAA 0.313000 24 91 7.92952e-12 1.27606e-11 0.003954 1 0 XKR7 343702 broad.mit.edu 37 20 30584711 30584711 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:30584711G>A ENST00000217299.3 + 3 1365 c.1191G>A c.(1189-1191)gcG>gcA p.A397A NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 397 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGAACGCCGCGCTCACCGGCT 0.592000 15 60 0 0 0.003163 0 0 GALNTL6 442117 broad.mit.edu 37 4 173734859 173734859 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:173734859C>G ENST00000506823.1 + 7 1565 c.908C>G c.(907-909)cCc>cGc p.P303R GALNTL6_ENST00000508122.1_Missense_Mutation_p.P286R NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 303 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.P303H(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AGGGCAGATCCCAGCGACCCT 0.552000 9 34 0 0 0.004482 0 0 CCP110 9738 broad.mit.edu 37 16 19548034 19548034 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:19548034T>C ENST00000396212.2 + 5 1479 c.1043T>C c.(1042-1044)gTt>gCt p.V348A CCP110_ENST00000396208.2_Missense_Mutation_p.V348A|CCP110_ENST00000381396.5_Missense_Mutation_p.V348A NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 348 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CCCACTTTTGTTACCGAAAAT 0.393000 8 36 0 0 0.003080 0 0 TANC2 26115 broad.mit.edu 37 17 61489411 61489411 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61489411G>A ENST00000424789.2 + 21 3600 c.3596G>A c.(3595-3597)gGa>gAa p.G1199E TANC2_ENST00000389520.4_Missense_Mutation_p.G1199E|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1199 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GACTACAGTGGAATGCGCCCT 0.522000 16 97 0 0 0.003163 0 0 TENM1 10178 broad.mit.edu 37 X 124028175 124028175 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:124028175C>G ENST00000422452.2 - 3 568 c.505G>C c.(505-507)Gac>Cac p.D169H TENM1_ENST00000371130.3_Missense_Mutation_p.D169H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCCTCCATGTCACAACAAACA 0.423000 13 47 0 0 0.003163 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857414 68857414 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:68857414C>G ENST00000361320.4 + 3 2184 c.1606C>G c.(1606-1608)Cat>Gat p.H536D CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 536 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CTGTGGGGTGCATCATGAACT 0.438000 59 19 0 0 0.003610 0 0 ITGAD 3681 broad.mit.edu 37 16 31435842 31435842 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:31435842G>T ENST00000389202.2 + 29 3365 c.3316G>T c.(3316-3318)Ggc>Tgc p.G1106C NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1106 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CATCATCATGGGCAGCTCTGT 0.478000 20 29 3.5997e-14 5.99312e-14 0.002299 1 0 HCLS1 3059 broad.mit.edu 37 3 121350770 121350770 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:121350770C>G ENST00000314583.3 - 14 1475 c.1384G>C c.(1384-1386)Gac>Cac p.D462H HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D425H NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 462 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CAGCCCTCGTCCACCATCTCA 0.507000 27 140 0 0 0.004656 0 0 NIN 51199 broad.mit.edu 37 14 51233537 51233537 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:51233537G>A ENST00000245441.5 - 13 1696 c.1506C>T c.(1504-1506)aaC>aaT p.N502N NIN_ENST00000389868.3_Silent_p.N502N|NIN_ENST00000382043.4_Silent_p.N502N|NIN_ENST00000382041.3_Silent_p.N502N|NIN_ENST00000530997.2_Silent_p.N502N|NIN_ENST00000324330.9_Silent_p.N502N|NIN_ENST00000453196.1_Silent_p.N502N NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 502 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCTGAAGTTTGTTTGTCAGAT 0.363000 T PDGFRB MPD 21 65 0 0 0.001882 0 0 DNAH3 55567 broad.mit.edu 37 16 20996821 20996821 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:20996821G>T ENST00000261383.3 - 48 7242 c.7243C>A c.(7243-7245)Cac>Aac p.H2415N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2415 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTAGAGATGTGCTCAATGGCA 0.562000 29 35 3.65163e-15 6.12847e-15 0.006320 1 0 IFI16 3428 broad.mit.edu 37 1 159002362 159002362 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:159002362C>G ENST00000295809.7 + 7 1465 c.1210C>G c.(1210-1212)Cta>Gta p.L404V IFI16_ENST00000430894.2_Missense_Mutation_p.L352V|IFI16_ENST00000340979.6_Missense_Mutation_p.L404V|IFI16_ENST00000359709.3_Missense_Mutation_p.L348V|IFI16_ENST00000448393.2_Missense_Mutation_p.L404V|IFI16_ENST00000368132.3_Missense_Mutation_p.L404V|IFI16_ENST00000368131.4_Missense_Mutation_p.L404V Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 404 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) GAGCATGAAGCTACCCCAGGA 0.443000 8 27 0 0 0.004482 0 0 CD40 958 broad.mit.edu 37 20 44751319 44751319 + Nonsense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:44751319G>A ENST00000372285.3 + 4 399 c.327G>A c.(325-327)tgG>tgA p.W109* CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Nonsense_Mutation_p.W109* NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 109 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) AAGAAGGCTGGCACTGTACGA 0.572000 Immune Deficiency with Hyper-IgM 15 31 0 0 0.004007 0 0 HELZ 9931 broad.mit.edu 37 17 65110479 65110479 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:65110479C>T ENST00000358691.5 - 28 4045 c.3879G>A c.(3877-3879)aaG>aaA p.K1293K HELZ_ENST00000580168.1_Silent_p.K1294K NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GTGTTCGAATCTTATTAATTT 0.353000 14 99 0 0 0.004007 0 0 BCL11B 64919 broad.mit.edu 37 14 99723967 99723967 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:99723967C>T ENST00000345514.2 - 2 534 c.268G>A c.(268-270)Gac>Aac p.D90N BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.D90N NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 489 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) AGGGCCTTGTCATAGCAGGCA 0.592000 T TLX3 T-ALL 16 27 0 0 0.003163 0 0 SLC45A3 85414 broad.mit.edu 37 1 205633714 205633714 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:205633714A>T ENST00000367145.3 - 2 366 c.71T>A c.(70-72)cTa>cAa p.L24Q NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 24 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GCCAAAGGTTAGCAGGTTGAC 0.632000 T """ETV1, ETV5, ELK4, ERG""" prostate 40 103 0 0 0.006230 0 0 ACE 1636 broad.mit.edu 37 17 61562274 61562274 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61562274C>T ENST00000577647.1 + 1 91 c.46C>T c.(46-48)Ctg>Ttg p.L16L ACE_ENST00000490216.2_Silent_p.L16L|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Silent_p.L16L|ACE_ENST00000290863.6_Silent_p.L16L|ACE_ENST00000290866.4_Intron P12821 ACE_HUMAN angiotensin I converting enzyme 0 arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCTCCTCTTCCTGCTGCTCTG 0.637000 4 17 0 0 0.000602 0 0 LOC440040 440040 broad.mit.edu 37 11 49805563 49805563 + RNA SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:49805563A>T ENST00000527477.1 + 0 1251 CATGACGGTGAGAGGTCTGCT 0.517000 12 41 0 0 0.000978 0 0 KIF21B 23046 broad.mit.edu 37 1 200974783 200974783 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:200974783G>T ENST00000332129.2 - 4 803 c.487C>A c.(487-489)Cgt>Agt p.R163S KIF21B_ENST00000360529.5_Missense_Mutation_p.R163S|KIF21B_ENST00000461742.2_Missense_Mutation_p.R163S|KIF21B_ENST00000422435.2_Missense_Mutation_p.R163S 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 163 Kinesin-motor. 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 TCAGGGTCACGGGTGCTGTCA 0.577000 25 71 5.61819e-17 9.71543e-17 0.005443 1 0 ZBTB11 27107 broad.mit.edu 37 3 101390998 101390998 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:101390998C>G ENST00000312938.4 - 2 950 c.370G>C c.(370-372)Gat>Cat p.D124H ZBTB11_ENST00000461821.1_Missense_Mutation_p.D124H NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CGGGATCGATCTAGTTTCTCC 0.348000 14 124 0 0 0.004990 0 0 DSG3 1830 broad.mit.edu 37 18 29055707 29055707 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr18:29055707G>T ENST00000257189.4 + 16 2567 c.2484G>T c.(2482-2484)gtG>gtT p.V828V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 828 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTCTCCTGTGGGCTCCGTGG 0.473000 14 17 0.00185496 0.0024293 0.001855 1 0 ACE 1636 broad.mit.edu 37 17 61562273 61562273 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61562273C>T ENST00000577647.1 + 1 90 c.45C>T c.(43-45)ttC>ttT p.F15F ACE_ENST00000490216.2_Silent_p.F15F|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Silent_p.F15F|ACE_ENST00000290863.6_Silent_p.F15F|ACE_ENST00000290866.4_Intron P12821 ACE_HUMAN angiotensin I converting enzyme 0 arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCCTCCTCTTCCTGCTGCTCT 0.637000 4 17 0 0 0.000602 0 0 APBB1 322 broad.mit.edu 37 11 6422619 6422619 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:6422619C>A ENST00000389906.2 - 10 1643 c.1544G>T c.(1543-1545)gGa>gTa p.G515V APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000530885.1_Missense_Mutation_p.G293V|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.G513V|APBB1_ENST00000299402.6_Missense_Mutation_p.G513V NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 515 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.G513V(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAGGGAGAGTCCATTTACCAA 0.552000 7 53 0.000274275 0.000370035 0.004482 1 0 ABCC4 10257 broad.mit.edu 37 13 95818455 95818455 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:95818455G>C ENST00000376887.4 - 15 2105 c.1991C>G c.(1990-1992)tCt>tGt p.S664C ABCC4_ENST00000536256.1_Missense_Mutation_p.S589C|ABCC4_ENST00000431522.1_Missense_Mutation_p.S664C|ABCC4_ENST00000412704.1_Missense_Mutation_p.S664C NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 664 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGGTCTAGAAGATTGTTGAGA 0.448000 19 47 0 0 0.001882 0 0 NUTM1 256646 broad.mit.edu 37 15 34638205 34638205 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:34638205G>T ENST00000537011.1 + 2 451 c.69G>T c.(67-69)gtG>gtT p.V23V NUTM1_ENST00000438749.3_Intron|NUTM1_ENST00000333756.4_5'UTR NUT midline carcinoma, family member 1 CACAGTTAGTGCCCAAACCTG 0.542000 28 54 8.16721e-17 1.40458e-16 0.002096 1 0 OR4C46 119749 broad.mit.edu 37 11 51516107 51516107 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:51516107A>T ENST00000328188.1 + 1 826 c.826A>T c.(826-828)Ata>Tta p.I276L NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CTACACTATGATAACTCCTAT 0.378000 16 45 0 0 0.004990 0 0 EBF3 253738 broad.mit.edu 37 10 131639127 131639127 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:131639127G>T ENST00000368648.3 - 14 1587 c.1515C>A c.(1513-1515)tcC>tcA p.S505S EBF3_ENST00000355311.5_Silent_p.S514S NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 514 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GAGAGTTAGCGGAGGAGCCAT 0.502000 36 49 3.93418e-24 7.22228e-24 0.004289 1 0 PIK3R6 146850 broad.mit.edu 37 17 8725198 8725198 + Silent SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:8725198C>G ENST00000311434.9 - 18 2081 c.1842G>C c.(1840-1842)ctG>ctC p.L614L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 615 platelet activation cytosol CCTTCAGGATCAGCCCAGTGG 0.592000 3 7 0 0 0.000248 0 0 GJB7 375519 broad.mit.edu 37 6 87994459 87994459 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:87994459G>T ENST00000525899.1 - 3 517 c.172C>A c.(172-174)Ccc>Acc p.P58T GJB7_ENST00000296882.3_Missense_Mutation_p.P58T NM_198568.2 NP_940970.1 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 58 cell communication connexon complex|integral to membrane endometrium(2)|large_intestine(3) 5 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) TTGCAACCGGGCTGTCTACTG 0.483000 45 33 8.86878e-18 1.5508e-17 0.003610 1 0 PCDHB15 56121 broad.mit.edu 37 5 140625697 140625697 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140625697C>T ENST00000231173.3 + 1 551 c.551C>T c.(550-552)aCc>aTc p.T184I NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 184 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCACTCGCACCCGAGGGGAT 0.512000 11 13 0 0 0.000978 0 0 SLC25A40 55972 broad.mit.edu 37 7 87479251 87479251 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:87479251T>C ENST00000341119.5 - 6 623 c.277A>G c.(277-279)Aaa>Gaa p.K93E NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 93 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) CGAATGATTTTAAAAAATGCA 0.254000 6 25 0 0 0.006214 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33886985 33886985 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:33886985C>T ENST00000307296.3 + 12 1923 c.1546C>T c.(1546-1548)Cat>Tat p.H516Y PDCD6IP_ENST00000457054.2_Missense_Mutation_p.H521Y Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 516 Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TTACCAGTCTCATCGTGACAC 0.468000 15 20 0 0 0.003163 0 0 VPS72 6944 broad.mit.edu 37 1 151158033 151158033 + Nonsense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:151158033G>A ENST00000354473.4 - 3 370 c.334C>T c.(334-336)Cga>Tga p.R112* VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 112 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCTCTTCTCGCGCCTTCTGA 0.468000 295 130 0 0 0.003610 0 0 CCDC40 55036 broad.mit.edu 37 17 78013719 78013719 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:78013719G>A ENST00000397545.4 + 3 229 c.202G>A c.(202-204)Gag>Aag p.E68K CCDC40_ENST00000269318.5_Missense_Mutation_p.E68K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E68K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E68K NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 68 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGAAgagggggaggtggagac 0.512000 16 47 0 0 0.006122 0 0 SAGE1 55511 broad.mit.edu 37 X 134993980 134993980 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:134993980G>T ENST00000535938.1 + 18 2556 c.2389G>T c.(2389-2391)Gac>Tac p.D797Y SAGE1_ENST00000324447.3_Missense_Mutation_p.D797Y|SAGE1_ENST00000370709.3_Missense_Mutation_p.D797Y|SAGE1_ENST00000537770.1_Missense_Mutation_p.D421Y NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 797 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CTCTGCAGGTGACCCACCAGT 0.403000 34 108 3.33393e-15 5.61033e-15 0.004878 1 0 NAV3 89795 broad.mit.edu 37 12 78571438 78571438 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:78571438G>T ENST00000397909.2 + 28 5509 c.5336G>T c.(5335-5337)gGc>gTc p.G1779V NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000536525.2_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1779 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CGACAAAATGGCCCTGTGATC 0.423000 HNSCC(70;0.22) 14 16 6.72482e-11 1.05243e-10 0.003163 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821398 5821398 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:5821398C>A ENST00000381095.3 - 5 1948 c.1321G>T c.(1321-1323)Gtg>Ttg p.V441L NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 441 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.V441L(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AAGAGAGCCACCAGGGTTTTC 0.597000 15 32 3.99206e-14 6.62872e-14 0.007413 1 0 STXBP4 252983 broad.mit.edu 37 17 53218706 53218706 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:53218706G>A ENST00000376352.2 + 17 1732 c.1525G>A c.(1525-1527)Gat>Aat p.D509N STXBP4_ENST00000434978.2_Missense_Mutation_p.D487N NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 509 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTACACAGCAGATGGAATCAA 0.363000 37 47 0 0 0.003214 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754886 140754886 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140754886G>T ENST00000517434.1 + 1 1236 c.1236G>T c.(1234-1236)cgG>cgT p.R412R PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAGACCGGGAAGAGGTAT 0.443000 42 27 4.32679e-17 7.52381e-17 0.006999 1 0 RSC1A1 6248 broad.mit.edu 37 1 15987580 15987580 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:15987580C>T ENST00000345034.1 + 1 1217 c.1217C>T c.(1216-1218)aCc>aTc p.T406I DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 406 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCATCTTACCCAGAATGAA 0.403000 15 22 0 0 0.002450 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:178921553T>A ENST00000263967.3 + 5 1192 c.1035T>A c.(1033-1035)aaT>aaA p.N345K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 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.N345K(44) 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) CCTACGTGAATGTAAATATTC 0.308000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 51 39 0 0 0.003610 0 0 ITGA4 3676 broad.mit.edu 37 2 182322407 182322407 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:182322407C>A ENST00000397033.2 + 1 456 c.26C>A c.(25-27)cCc>cAc p.P9H ITGA4_ENST00000339307.4_Missense_Mutation_p.P9H NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 9 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGGCGCGAACCCGGCCCCCGA 0.667000 7 7 1.12685e-05 1.59595e-05 0.004482 1 0 LOC653786 653786 broad.mit.edu 37 16 22563720 22563720 + RNA SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:22563720C>T ENST00000550753.1 + 0 1375 NR_003676.2 TGAGATCCTTCTGCAAGCAGC 0.428000 13 90 0 0 0.003163 0 0 CCDC108 255101 broad.mit.edu 37 2 219892985 219892985 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:219892985C>T ENST00000341552.5 - 12 1872 c.1789G>A c.(1789-1791)Gcc>Acc p.A597T CCDC108_ENST00000409865.3_Missense_Mutation_p.A586T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A597T|CCDC108_ENST00000441968.1_Missense_Mutation_p.A597T|CCDC108_ENST00000410037.1_Missense_Mutation_p.A532T NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 597 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCAGCATGGCATCCAGGATG 0.607000 27 24 0 0 0.005443 0 0 ABCA10 10349 broad.mit.edu 37 17 67152975 67152975 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:67152975G>A ENST00000269081.4 - 29 4362 c.3453C>T c.(3451-3453)ttC>ttT p.F1151F ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1151 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TTCCCAACCTGAAAACTGGGT 0.239000 8 47 0 0 0.004482 0 0 LPAR6 10161 broad.mit.edu 37 13 48985870 48985870 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:48985870C>G ENST00000378434.4 - 7 2314 c.690G>C c.(688-690)atG>atC p.M230I RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M230I NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 230 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 GTACAAAAATCATTTTTAAAA 0.249000 8 22 0 0 0.003080 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606339 13606339 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:13606339C>T ENST00000040738.5 - 10 2320 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 729 Lys-rich. DNA binding TTCTCTCTTTCAGGCTTCTCC 0.368000 19 70 0 0 0.006122 0 0 F8 2157 broad.mit.edu 37 X 154158690 154158690 + Silent SNP T T G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:154158690T>G ENST00000360256.4 - 14 3575 c.3375A>C c.(3373-3375)gcA>gcC p.A1125A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1125 B. 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) GTATCCACCTTGCTGATTCTG 0.443000 16 83 0 0 0.003163 0 0 TBC1D19 55296 broad.mit.edu 37 4 26721717 26721717 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:26721717G>C ENST00000264866.4 + 15 1332 c.1054G>C c.(1054-1056)Gaa>Caa p.E352Q TBC1D19_ENST00000511789.1_Missense_Mutation_p.E287Q NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 352 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) ACTAGGACTGGAAGAATATGC 0.299000 9 55 0 0 0.001368 0 0 USP31 57478 broad.mit.edu 37 16 23093869 23093869 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:23093869C>A ENST00000219689.7 - 12 1839 c.1840G>T c.(1840-1842)Gat>Tat p.D614Y NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 614 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CAGGCATCATCGGGGGCAAGC 0.502000 11 11 0.000151284 0.000207684 0.001855 1 0 TTLL1 25809 broad.mit.edu 37 22 43435841 43435841 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr22:43435841C>A ENST00000331018.7 - 10 1366 c.1126G>T c.(1126-1128)Ggg>Tgg p.G376W AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.G405W O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 405 protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GCTCTGGGCCCCAGAGACTGA 0.602000 31 64 9.65021e-13 1.56503e-12 0.002096 1 0 ADAM11 4185 broad.mit.edu 37 17 42851877 42851877 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:42851877G>A ENST00000200557.6 + 13 1264 c.1095G>A c.(1093-1095)gcG>gcA p.A365A ADAM11_ENST00000535346.1_Silent_p.A165A NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 365 Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) ACATGGGGGCGATGGCCGTGA 0.637000 8 22 0 0 0.004482 0 0 ABCA10 10349 broad.mit.edu 37 17 67153032 67153032 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:67153032G>A ENST00000269081.4 - 29 4305 c.3396C>T c.(3394-3396)gtC>gtT p.V1132V ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1132 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GACACCTTATGACAAAAAGGA 0.303000 8 43 0 0 0.004482 0 0 HFM1 164045 broad.mit.edu 37 1 91784675 91784675 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:91784675C>A ENST00000370425.3 - 25 2870 c.2772G>T c.(2770-2772)tgG>tgT p.W924C HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.W603C|HFM1_ENST00000294696.5_Missense_Mutation_p.W156C NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 924 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GAGAGTTTTCCCAAAGTTTAC 0.348000 13 24 0.000219431 0.000300578 0.002450 1 0 BAI1 575 broad.mit.edu 37 8 143570748 143570748 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:143570748G>A ENST00000517894.1 + 16 3474 c.2580G>A c.(2578-2580)ccG>ccA p.P860P BAI1_ENST00000323289.5_Silent_p.P860P O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 860 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGAAACCCCCGCCTCGCTCCC 0.602000 16 133 0 0 0.006122 0 0 KALRN 8997 broad.mit.edu 37 3 124053288 124053288 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:124053288G>A ENST00000360013.3 + 9 1714 c.1587G>A c.(1585-1587)aaG>aaA p.K529K KALRN_ENST00000460856.1_Silent_p.K529K|KALRN_ENST00000240874.3_Silent_p.K529K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 529 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCACCGCAAGGTGCGGCTCC 0.602000 41 30 0 0 0.008740 0 0 SPTBN1 6711 broad.mit.edu 37 2 54880932 54880932 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:54880932G>A ENST00000333896.5 + 26 6110 c.5725G>A c.(5725-5727)Gac>Aac p.D1909N SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1922N NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1922 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CATGGTGCGCGACCTCATGCT 0.592000 9 35 0 0 0.006214 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36104678 36104678 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:36104678T>C ENST00000258840.6 - 32 4816 c.4426A>G c.(4426-4428)Att>Gtt p.I1476V RALGAPA1_ENST00000382366.3_Missense_Mutation_p.I1442V|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.I1429V|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.I1429V Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1429 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACCTTATAAATGCAATTGAGA 0.333000 3 15 0 0 0.000602 0 0 KLHL13 90293 broad.mit.edu 37 X 117033283 117033283 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:117033283G>T ENST00000371876.1 - 6 3824 c.1403C>A c.(1402-1404)gCg>gAg p.A468E KLHL13_ENST00000469946.1_Missense_Mutation_p.A468E|KLHL13_ENST00000262820.3_Missense_Mutation_p.A519E|KLHL13_ENST00000371878.1_Missense_Mutation_p.A468E|KLHL13_ENST00000545703.1_Missense_Mutation_p.A477E|KLHL13_ENST00000371882.1_Missense_Mutation_p.A468E|KLHL13_ENST00000541812.1_Missense_Mutation_p.A503E|KLHL13_ENST00000540167.1_Missense_Mutation_p.A503E|KLHL13_ENST00000539496.1_Missense_Mutation_p.A522E Q9P2N7 KLH13_HUMAN kelch-like family member 13 519 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.A519V(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GGTCATTGGCGCCTTCTGGAT 0.423000 65 259 1.17253e-29 2.26544e-29 0.003610 1 0 RTP1 132112 broad.mit.edu 37 3 186917744 186917744 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:186917744G>T ENST00000312295.4 + 2 708 c.678G>T c.(676-678)tcG>tcT p.S226S RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 226 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding p.S226S(1) breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CCACCAAGTCGCAGGACCAGA 0.627000 15 68 2.31682e-05 3.24459e-05 0.003163 1 0 STON2 85439 broad.mit.edu 37 14 81744458 81744458 + Silent SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:81744458T>C ENST00000555447.1 - 6 1609 c.1197A>G c.(1195-1197)gcA>gcG p.A399A STON2_ENST00000267540.2_Silent_p.A399A NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 399 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CAGGTAGAGTTGCACTGCCAA 0.488000 21 42 0 0 0.001523 0 0 PER2 8864 broad.mit.edu 37 2 239169510 239169510 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:239169510T>A ENST00000254657.3 - 13 1780 c.1501A>T c.(1501-1503)Agc>Tgc p.S501C PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 501 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TTGCTGTCGCTGGAGGAGGTC 0.607000 118 130 0 0 0.003610 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25264296 25264296 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:25264296T>A ENST00000328086.7 - 3 1452 c.649A>T c.(649-651)Aca>Tca p.T217S NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 217 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CGTGTGGTTGTCACTTCCTGA 0.483000 35 129 0 0 0.008740 0 0 HSPA6 3310 broad.mit.edu 37 1 161494985 161494985 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:161494985G>C ENST00000309758.4 + 1 950 c.537G>C c.(535-537)acG>acC p.T179T NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 179 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) ATGAGCCCACGGCAGCTGCCA 0.647000 10 96 0 0 0.000978 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31965029 31965029 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr21:31965029C>A ENST00000391624.1 + 1 271 c.244C>A c.(244-246)Cac>Aac p.H82N NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 ctATGTCTCCCACTCCTTCTG 0.572000 8 27 5.18039e-06 7.42088e-06 0.003080 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924776 105924776 + Splice_Site SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:105924776C>G ENST00000393359.2 - 2 410 c.e2-1 TGFBRAP1_ENST00000258449.1_5'UTR Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GGCTGATCTGCTGGAAGAGAA 0.458000 3 16 0 0 0.000248 0 0 TP53 7157 broad.mit.edu 37 17 7577532 7577532 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:7577532G>A ENST00000420246.2 - 7 881 c.749C>T c.(748-750)cCc>cTc p.P250L TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 250 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGAGGATGGGCCTCCGGTT 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 18 0 0 0.005524 0 0 GRM6 2916 broad.mit.edu 37 5 178413548 178413548 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:178413548C>A ENST00000231188.5 - 8 1885 c.1707G>T c.(1705-1707)acG>acT p.T569T GRM6_ENST00000517717.1_Silent_p.T569T|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 569 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCGGCAGCCCGTGTGGTTGG 0.701000 11 3 6.72482e-11 1.05243e-10 0.003163 1 0 SERPINE2 5270 broad.mit.edu 37 2 224862961 224862961 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:224862961A>T ENST00000409840.3 - 4 1018 c.358T>A c.(358-360)Tct>Act p.S120T SERPINE2_ENST00000447280.2_Missense_Mutation_p.S132T|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S120T|SERPINE2_ENST00000258405.4_Missense_Mutation_p.S120T P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 120 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAATTTCAGAGGCATTCTTA 0.423000 24 26 0 0 0.003954 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128880267 128880267 + Nonsense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:128880267G>A ENST00000371106.3 + 5 546 c.354G>A c.(352-354)tgG>tgA p.W118* XPNPEP2_ENST00000371105.3_Nonsense_Mutation_p.W118* NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 118 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GTCGCTACTGGACTCAGGCTG 0.557000 18 23 0 0 0.002299 0 0 DDX60L 91351 broad.mit.edu 37 4 169279395 169279395 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:169279395C>G ENST00000511577.1 - 38 5271 c.5024G>C c.(5023-5025)cGt>cCt p.R1675P DDX60L_ENST00000260184.7_Missense_Mutation_p.R1675P Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1675 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TACATTGTCACGCTTATTTTC 0.269000 6 16 0 0 0.001168 0 0 RSPO1 284654 broad.mit.edu 37 1 38079472 38079472 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:38079472G>T ENST00000356545.2 - 7 1316 c.529C>A c.(529-531)Cgc>Agc p.R177S RSPO1_ENST00000373059.1_Missense_Mutation_p.R150S|RSPO1_ENST00000401068.1_Missense_Mutation_p.R177S|RSPO1_ENST00000401069.1_Missense_Mutation_p.R177S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 177 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGCACCCTGCGTGTCCGCTCC 0.642000 16 28 4.7546e-09 7.20674e-09 0.004007 1 0 CXorf57 55086 broad.mit.edu 37 X 105891594 105891594 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:105891594G>C ENST00000372548.4 + 11 2065 c.1956G>C c.(1954-1956)ccG>ccC p.P652P CXorf57_ENST00000372544.2_Silent_p.P555P|CXorf57_ENST00000497124.1_3'UTR NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 652 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GAATTAAACCGGGCATGCCAA 0.308000 20 69 0 0 0.003330 0 0 NLRP2 55655 broad.mit.edu 37 19 55494005 55494005 + Silent SNP G G C rs61735080 byFrequency TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:55494005G>C ENST00000543010.1 + 6 1082 c.939G>C c.(937-939)ccG>ccC p.P313P NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000391721.4_Silent_p.P289P NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 313 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAAGAAGCCGGTGCCCGTCC 0.632000 23 20 0 0 0.002780 0 0 ZNF449 203523 broad.mit.edu 37 X 134494568 134494568 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:134494568G>T ENST00000339249.4 + 5 1264 c.1124G>T c.(1123-1125)gGg>gTg p.G375V NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 375 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CTTCATACAGGGGAGAGACCC 0.428000 34 100 2.47316e-13 4.05287e-13 0.003271 1 0 DDX26B 203522 broad.mit.edu 37 X 134681154 134681154 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:134681154G>A ENST00000370752.4 + 6 1040 c.706G>A c.(706-708)Gaa>Aaa p.E236K DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 236 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TATTAATTTTGAAAAAACAGG 0.333000 38 150 0 0 0.006999 0 0 DENND2A 27147 broad.mit.edu 37 7 140302141 140302141 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:140302141C>A ENST00000275884.6 - 2 474 c.57G>T c.(55-57)agG>agT p.R19S DENND2A_ENST00000537639.1_Missense_Mutation_p.R19S|DENND2A_ENST00000496613.1_Missense_Mutation_p.R19S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R19S Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 19 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTTCCCAGCCCTGCTGGCTT 0.532000 41 31 1.62957e-23 2.98278e-23 0.008740 1 0 CPQ 10404 broad.mit.edu 37 8 97847376 97847376 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:97847376C>A ENST00000220763.5 + 3 819 c.609C>A c.(607-609)ctC>ctA p.L203L NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 203 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity TGGCATCTCTCATTCGATCCG 0.468000 10 94 0.000673444 0.000895066 0.008291 1 0 BBS9 27241 broad.mit.edu 37 7 33217091 33217091 + Splice_Site SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:33217091A>C ENST00000242067.6 + 5 851 c.328_splice c.e5-1 p.G110_splice BBS9_ENST00000396127.2_Splice_Site_p.G110_splice|BBS9_ENST00000425508.2_Splice_Site_p.G65_splice|BBS9_ENST00000354265.4_Splice_Site_p.G110_splice|BBS9_ENST00000350941.3_Splice_Site_p.G110_splice|BBS9_ENST00000355070.2_Splice_Site_p.G110_splice NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 110 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TTTCCTTAGGAACCTTGGGTA 0.333000 Bardet-Biedl syndrome 6 20 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113304891 113304891 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:113304891C>T ENST00000297405.5 - 55 8907 c.8663G>A c.(8662-8664)gGa>gAa p.G2888E CSMD3_ENST00000352409.3_Missense_Mutation_p.G2818E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2848E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2719E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2888 Sushi 19. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAACCCATTTCCACTTGTTCT 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 72 0 0 0.001523 0 0 HCFC1 3054 broad.mit.edu 37 X 153222782 153222782 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:153222782G>T ENST00000310441.7 - 13 3302 c.2336C>A c.(2335-2337)aCc>aAc p.T779N HCFC1_ENST00000369984.4_Missense_Mutation_p.T779N|HCFC1_ENST00000354233.3_Missense_Mutation_p.T710N NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 779 Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCGCCTGGGTGATGATGGC 0.612000 37 229 7.88023e-25 1.45947e-24 0.003610 1 0 TFAP4 7023 broad.mit.edu 37 16 4308067 4308067 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:4308067C>G ENST00000204517.6 - 7 1334 c.1006G>C c.(1006-1008)Gag>Cag p.E336Q NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 336 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CAGGGAAGCTCCCCGTCCCCC 0.682000 5 15 0 0 0.000602 0 0 CELA3A 10136 broad.mit.edu 37 1 22336215 22336215 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:22336215C>A ENST00000290122.3 + 7 679 c.660C>A c.(658-660)ccC>ccA p.P220P NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGGAGGACCCCTCAACTGCC 0.547000 11 2 5.50884e-06 7.85543e-06 0.001368 1 0 HOXA9 3205 broad.mit.edu 37 7 27204522 27204522 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:27204522G>T ENST00000343483.6 - 1 627 c.555C>A c.(553-555)ggC>ggA p.G185G RP1-170O19.20_ENST00000470747.4_Silent_p.G25G|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 185 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 GCTTGTCTCCGCCGCTCTCAT 0.577000 T """NUP98, MSI2""" AML* 11 41 9.31168e-06 1.32179e-05 0.001855 1 0 FAM214A 56204 broad.mit.edu 37 15 52901391 52901391 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:52901391C>G ENST00000261844.7 - 6 1872 c.1720G>C c.(1720-1722)Gaa>Caa p.E574Q FAM214A_ENST00000546305.2_Missense_Mutation_p.E581Q NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 574 GAACACTTTTCTTTACTATTA 0.318000 10 21 0 0 0.008291 0 0 PKD1L2 114780 broad.mit.edu 37 16 81134842 81134842 + RNA SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:81134842G>C ENST00000525539.1 - 0 7264 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAGGAAACTGAGTATTTTCA 0.527000 7 28 0 0 0.003080 0 0 SMPD4 55627 broad.mit.edu 37 2 130911005 130911005 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:130911005T>A ENST00000409031.1 - 18 3177 c.2029A>T c.(2029-2031)Agg>Tgg p.R677W SMPD4_ENST00000453750.1_Missense_Mutation_p.R426W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R313W|SMPD4_ENST00000351288.6_Missense_Mutation_p.R648W|SMPD4_ENST00000452225.2_Missense_Mutation_p.R418W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R575W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R535W|SMPD4_ENST00000443958.2_Missense_Mutation_p.R341W NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 638 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) GTGAACTGCCTGAGCTGCGCT 0.577000 37 26 0 0 0.005524 0 0 OR4C15 81309 broad.mit.edu 37 11 55322128 55322128 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:55322128T>A ENST00000314644.2 + 1 346 c.346T>A c.(346-348)Ttg>Atg p.L116M NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L116V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GTACTTCTTCTTGGGCTTCCT 0.448000 HNSCC(20;0.049) 29 132 0 0 0.006320 0 0 C1orf141 400757 broad.mit.edu 37 1 67561944 67561944 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:67561944C>G ENST00000371007.2 - 6 516 c.407G>C c.(406-408)aGa>aCa p.R136T C1orf141_ENST00000544837.1_Missense_Mutation_p.R136T|C1orf141_ENST00000371006.1_Missense_Mutation_p.R136T NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 136 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 CCTTTTATTTCTATCACCTTC 0.254000 4 13 0 0 0.000602 0 0 MTBP 27085 broad.mit.edu 37 8 121534921 121534921 + Nonsense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:121534921G>T ENST00000305949.1 + 21 2683 c.2638G>T c.(2638-2640)Gaa>Taa p.E880* NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 880 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GGGTCTATTTGAAGAAATGAA 0.269000 11 36 0.00136819 0.00180314 0.001368 1 0 TOPBP1 11073 broad.mit.edu 37 3 133363085 133363085 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:133363085C>T ENST00000260810.5 - 11 1758 c.1627G>A c.(1627-1629)Gat>Aat p.D543N TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 543 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 GTAGAAACATCAGGGACACAA 0.363000 Other conserved DNA damage response genes 7 37 0 0 0.001984 0 0 FAM47B 170062 broad.mit.edu 37 X 34961433 34961433 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:34961433C>A ENST00000329357.5 + 1 521 c.485C>A c.(484-486)gCt>gAt p.A162D NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 162 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CTGGAGGACGCTTGGGCTCGT 0.587000 31 26 5.09552e-08 7.63109e-08 0.002096 1 0 OLFML2A 169611 broad.mit.edu 37 9 127561676 127561676 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:127561676A>T ENST00000373580.3 + 4 575 c.575A>T c.(574-576)aAg>aTg p.K192M NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 192 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CTGGGCATCAAGAAGGAGCTG 0.637000 12 8 0 0 0.001368 0 0 FSTL5 56884 broad.mit.edu 37 4 162841711 162841711 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:162841711G>T ENST00000306100.5 - 4 690 c.254C>A c.(253-255)gCa>gAa p.A85E FSTL5_ENST00000536695.1_Missense_Mutation_p.A84E|FSTL5_ENST00000427802.2_Missense_Mutation_p.A84E|FSTL5_ENST00000379164.4_Missense_Mutation_p.A84E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 85 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GGCACATTCTGCTTGCCCTGT 0.453000 21 15 6.21321e-17 1.07148e-16 0.002780 1 0 DNAJC13 23317 broad.mit.edu 37 3 132172488 132172488 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:132172488G>C ENST00000260818.6 + 8 1038 c.790G>C c.(790-792)Gaa>Caa p.E264Q DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 264 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATGTTTAGTAGAACGTGATCC 0.299000 33 168 0 0 0.004878 0 0 PIANP 196500 broad.mit.edu 37 12 6806462 6806462 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:6806462G>T ENST00000534837.1 - 3 743 c.514C>A c.(514-516)Cgt>Agt p.R172S PIANP_ENST00000320591.5_Missense_Mutation_p.R172S|PIANP_ENST00000540656.1_Missense_Mutation_p.R172S NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein CCTTCCCCACGGCCCCCGAAC 0.607000 20 23 5.35267e-07 7.81065e-07 0.007413 1 0 BAI3 577 broad.mit.edu 37 6 69684670 69684670 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:69684670G>T ENST00000370598.1 + 9 2362 c.1541G>T c.(1540-1542)tGc>tTc p.C514F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 514 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TATGAAATATGCCCTGAGGAT 0.408000 25 17 1.13719e-10 1.77527e-10 0.008361 1 0 MFSD2A 84879 broad.mit.edu 37 1 40434040 40434040 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:40434040C>T ENST00000372809.5 + 12 1425 c.1282C>T c.(1282-1284)Ctg>Ttg p.L428L MFSD2A_ENST00000372811.5_Silent_p.L415L|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.L259L NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 428 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CGACTTCCATCTGAAGCAGCC 0.522000 18 29 0 0 0.002299 0 0 MEFV 4210 broad.mit.edu 37 16 3306354 3306354 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:3306354G>T ENST00000219596.1 - 1 273 c.234C>A c.(232-234)aaC>aaA p.N78K MEFV_ENST00000541159.1_Missense_Mutation_p.N78K|MEFV_ENST00000536379.1_Missense_Mutation_p.N78K|MEFV_ENST00000339854.4_Missense_Mutation_p.N78K NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 78 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCAGGCGCTGGTTGATGGCCC 0.642000 23 21 2.89027e-11 4.56896e-11 0.002299 1 0 LCT 3938 broad.mit.edu 37 2 136575099 136575099 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:136575099G>T ENST00000264162.2 - 6 1529 c.1519C>A c.(1519-1521)Cat>Aat p.H507N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 507 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CATCCACCATGATCCTGCAGG 0.582000 11 65 1.58986e-06 2.30918e-06 0.008291 1 0 NPIPA1 9284 broad.mit.edu 37 16 15045679 15045679 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:15045679G>C ENST00000328085.6 + 8 850 c.850G>C c.(850-852)Gat>Cat p.D284H NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 CTCAGCGGATGATAATCTCAA 0.522000 23 130 0 0 0.006320 0 0 UBE2A 7319 broad.mit.edu 37 X 118708873 118708873 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:118708873G>T ENST00000371558.2 + 2 228 c.54G>T c.(52-54)gaG>gaT p.E18D UBE2A_ENST00000346330.3_Missense_Mutation_p.E18D|UBE2A_ENST00000469205.1_3'UTR NM_003336.2|NM_181762.1 NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 18 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 GGTTGCAGGAGGATCCTCCAG 0.692000 Rad6 pathway 13 77 0.00316338 0.00409995 0.003163 1 0 ATP5C1 509 broad.mit.edu 37 10 7841071 7841071 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:7841071G>C ENST00000356708.7 + 4 421 c.342G>C c.(340-342)atG>atC p.M114I ATP5C1_ENST00000335698.4_Missense_Mutation_p.M114I|ATP5C1_ENST00000541227.1_Missense_Mutation_p.M67I|ATP5C1_ENST00000493053.1_3'UTR NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 114 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 CTAAACAGATGAAAAGCGAGG 0.408000 28 56 0 0 0.007291 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790779 194790779 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:194790779C>T ENST00000310380.6 - 4 955 c.847G>A c.(847-849)Gag>Aag p.E283K XXYLT1_ENST00000355729.4_Missense_Mutation_p.E80K|XXYLT1_ENST00000429994.1_Missense_Mutation_p.E137K|XXYLT1_ENST00000437101.1_Missense_Mutation_p.E80K|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.E77K NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 283 integral to membrane transferase activity, transferring glycosyl groups GGCAGCCCCTCGGGGGGCGGG 0.677000 18 77 0 0 0.001523 0 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342605 16342605 + RNA SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:16342605C>T ENST00000475953.1 + 0 247 C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA NR_027667.1 ATCCGGCTGCCGTGGCTGAGG 0.716000 28 40 0 0 0.008361 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186915861 186915861 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:186915861A>T ENST00000367466.3 + 11 1278 c.1126A>T c.(1126-1128)Aca>Tca p.T376S PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T316S NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 376 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTTTATGGGAACAGTCGTTAA 0.338000 11 26 0 0 0.000978 0 0 KMT2D 8085 broad.mit.edu 37 12 49445926 49445926 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:49445926G>A ENST00000301067.7 - 10 1539 c.1540C>T c.(1540-1542)Cca>Tca p.P514S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCCTCCAGTGGAGAAAAAGGT 0.622000 15 55 0 0 0.002450 0 0 UBA6 55236 broad.mit.edu 37 4 68497610 68497610 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:68497610T>C ENST00000322244.4 - 24 2218 c.2159A>G c.(2158-2160)cAc>cGc p.H720R NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 720 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AGGGAAACAGTGAAGAAGCTG 0.274000 4 12 0 0 0.000602 0 0 SNTG1 54212 broad.mit.edu 37 8 51363127 51363127 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:51363127G>C ENST00000522124.1 + 7 950 c.289G>C c.(289-291)Gga>Cga p.G97R SNTG1_ENST00000517473.1_Missense_Mutation_p.G97R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G97R|SNTG1_ENST00000518864.1_Missense_Mutation_p.G97R NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 97 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GGAACTTTCAGGACTACTTTT 0.303000 39 23 0 0 0.002222 0 0 DNM1 1759 broad.mit.edu 37 9 131012511 131012511 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:131012511T>C ENST00000341179.7 + 20 2286 c.2194T>C c.(2194-2196)Tac>Cac p.Y732H DNM1_ENST00000486160.1_Missense_Mutation_p.Y732H|DNM1_ENST00000475805.1_Missense_Mutation_p.Y732H|DNM1_ENST00000372923.3_Missense_Mutation_p.Y732H|DNM1_ENST00000393594.3_Missense_Mutation_p.Y732H NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 732 GED. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCTGCGCATGTACCACGCACT 0.657000 7 18 0 0 0.003080 0 0 MAP2K3 5606 broad.mit.edu 37 17 21201777 21201777 + Silent SNP C C A rs145057136 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:21201777C>A ENST00000342679.4 + 2 351 c.102C>A c.(100-102)ccC>ccA p.P34P MAP2K3_ENST00000316920.6_Silent_p.P5P|MAP2K3_ENST00000361818.5_Silent_p.P5P NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 34 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCAAGCCACCCGCACCCAACC 0.562000 51 116 7.77372e-23 1.39838e-22 0.003610 1 0 STXBP4 252983 broad.mit.edu 37 17 53218670 53218670 + Splice_Site SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:53218670G>C ENST00000376352.2 + 17 1696 c.e17-1 STXBP4_ENST00000434978.2_Splice_Site NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTTCACTGTAGGTTTACCTTA 0.348000 30 38 0 0 0.003271 0 0 SLC5A10 125206 broad.mit.edu 37 17 18918509 18918509 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:18918509G>C ENST00000317977.6 + 10 1608 c.1037G>C c.(1036-1038)gGa>gCa p.G346A SLC5A10_ENST00000395642.1_Missense_Mutation_p.G346A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G386A|SLC5A10_ENST00000395645.3_Missense_Mutation_p.G413A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G429A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.G377A A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 413 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CTGCTGGTGGGACGGTACGGG 0.647000 5 3 0 0 0.001168 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455273 84455273 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:84455273G>T ENST00000377084.2 - 1 1255 c.370C>A c.(370-372)Cag>Aag p.Q124K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 124 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGAAAAGTCTGCTTTCGAAAA 0.473000 22 67 3.83957e-06 5.52545e-06 0.002780 1 0 PXDN 7837 broad.mit.edu 37 2 1651960 1651960 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:1651960G>A ENST00000252804.4 - 17 3642 c.3592C>T c.(3592-3594)Cgg>Tgg p.R1198W NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1198 R -> Q (in dbSNP:rs6723697). extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGTTTCTCCCGGATCTCAGGG 0.517000 34 103 0 0 0.004878 0 0 ABCA10 10349 broad.mit.edu 37 17 67153055 67153055 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:67153055G>C ENST00000269081.4 - 29 4282 c.3373C>G c.(3373-3375)Cag>Gag p.Q1125E ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1125 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) ATAACACTCTGAAGGTATGGC 0.313000 5 43 0 0 0.001168 0 0 MAGED2 10916 broad.mit.edu 37 X 54841756 54841756 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:54841756G>A ENST00000375068.1 + 12 1695 c.1462G>A c.(1462-1464)Gag>Aag p.E488K MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000347546.3_Missense_Mutation_p.E432K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000343474.6_Missense_Mutation_p.E470K|MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 488 p.E488*(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ggctgcagctgaggctgcagc 0.557000 9 37 0 0 0.006214 0 0 VCAM1 7412 broad.mit.edu 37 1 101190444 101190444 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:101190444A>T ENST00000294728.2 + 4 1027 c.926A>T c.(925-927)cAa>cTa p.Q309L VCAM1_ENST00000370119.4_Missense_Mutation_p.Q247L|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q309L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q309L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 309 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTAATTGTTCAAGGTGAGTAG 0.373000 11 10 0 0 0.000978 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92977600 92977600 + Missense_Mutation SNP G G T rs138598921 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:92977600G>T ENST00000268164.3 + 3 522 c.285G>T c.(283-285)agG>agT p.R95S ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R74S NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 95 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TCTCTCTGAGGATCAGGTACT 0.463000 49 12 6.81593e-30 1.32098e-29 0.003610 1 0 DUS4L 11062 broad.mit.edu 37 7 107207602 107207602 + Missense_Mutation SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:107207602A>C ENST00000265720.3 + 3 449 c.87A>C c.(85-87)aaA>aaC p.K29N DUS4L_ENST00000402620.1_5'UTR|DUS4L_ENST00000498786.1_3'UTR NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) 29 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 AGCTGGTAAAAGTCTGTGCCC 0.338000 3 15 0 0 0.000248 0 0 CIRBP 1153 broad.mit.edu 37 19 1272346 1272346 + Silent SNP G G A rs141322579 by1000genomes TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:1272346G>A ENST00000444172.2 + 5 773 c.639G>A c.(637-639)ccG>ccA p.P213P CIRBP_ENST00000588230.1_Silent_p.P266P|CIRBP_ENST00000587896.1_Silent_p.P266P|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000587323.1_Silent_p.P266P|CIRBP_ENST00000589710.1_Silent_p.P266P|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000413636.2_Silent_p.P232P|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586472.1_Intron Q14011 CIRBP_HUMAN cold inducible RNA binding protein 110 mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) GCCGCAGGCCGCGCCCTGGTC 0.647000 33 42 0 0 0.002836 0 0 CHRAC1 54108 broad.mit.edu 37 8 141525309 141525309 + Missense_Mutation SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:141525309A>G ENST00000220913.5 + 3 561 c.359A>G c.(358-360)aAt>aGt p.N120S CHRAC1_ENST00000519533.1_3'UTR NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 120 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) GAGAATGACAATGATAATGAA 0.388000 78 41 0 0 0.003610 0 0 NEDD9 4739 broad.mit.edu 37 6 11191136 11191136 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:11191136G>C ENST00000379446.5 - 5 1132 c.966C>G c.(964-966)ggC>ggG p.G322G NEDD9_ENST00000504387.1_Silent_p.G322G|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 322 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GAAACTGAACGCCTCGGGGGA 0.572000 5 82 0 0 0.000602 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092293 143092293 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:143092293T>C ENST00000367603.2 - 5 4325 c.3583A>G c.(3583-3585)Aca>Gca p.T1195A HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1195A|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1195A NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AATGGAATTGTCTCTTGATGT 0.443000 28 86 0 0 0.006320 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736283 56736283 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:56736283C>T ENST00000587340.1 - 4 828 c.133G>A c.(133-135)Gtg>Atg p.V45M ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V45M|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V45M Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 45 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTGAAGTTCACGTGAGAAATC 0.557000 19 42 0 0 0.006122 0 0 NXPE1 120400 broad.mit.edu 37 11 114401616 114401616 + Silent SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:114401616T>C ENST00000536312.1 - 6 1006 c.114A>G c.(112-114)ctA>ctG p.L38L NXPE1_ENST00000424269.1_Silent_p.L38L|NXPE1_ENST00000251921.2_5'UTR neurexophilin and PC-esterase domain family, member 1 TGGATAAGTTTAGAGCAGACC 0.343000 16 35 0 0 0.004007 0 0 ZNF619 285267 broad.mit.edu 37 3 40528670 40528670 + Silent SNP G G A rs138484130 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:40528670G>A ENST00000447116.2 + 6 1096 c.789G>A c.(787-789)caG>caA p.Q263Q ZNF619_ENST00000522736.1_Silent_p.Q214Q|ZNF619_ENST00000429348.2_Silent_p.Q223Q|ZNF619_ENST00000456778.1_Silent_p.Q179Q|ZNF619_ENST00000521353.1_Silent_p.Q263Q|ZNF619_ENST00000432264.2_Silent_p.Q223Q|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.Q207Q NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 263 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCTGCATCAGAGAGTTCACA 0.418000 14 19 0 0 0.001855 0 0 BICD2 23299 broad.mit.edu 37 9 95480092 95480092 + Missense_Mutation SNP T T C rs145923602 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:95480092T>C ENST00000356884.6 - 6 2312 c.2245A>G c.(2245-2247)Atg>Gtg p.M749V BICD2_ENST00000375512.3_Missense_Mutation_p.M749V NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 749 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGCAAACATAGCACGCAGC 0.587000 10 16 0 0 0.006214 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036335 153036335 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:153036335C>A ENST00000538966.1 + 12 2473 c.2202C>A c.(2200-2202)ttC>ttA p.F734L PLXNB3_ENST00000361971.5_Missense_Mutation_p.F711L|PLXNB3_ENST00000538282.1_Missense_Mutation_p.F321L|PLXNB3_ENST00000538776.1_Missense_Mutation_p.F364L|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 711 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TTCAACATTTCCGAGTGAGCC 0.647000 57 86 1.72039e-30 3.34461e-30 0.003610 1 0 BEND7 222389 broad.mit.edu 37 10 13481453 13481453 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:13481453C>A ENST00000341083.3 - 9 1422 c.1126G>T c.(1126-1128)Gcg>Tcg p.A376S BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Missense_Mutation_p.A427S NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 427 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AGGGTCACCGCTGCACTCCCA 0.527000 24 18 1.42536e-11 2.28788e-11 0.004656 1 0 GRIP1 23426 broad.mit.edu 37 12 66911695 66911695 + Silent SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:66911695T>A ENST00000359742.4 - 6 804 c.564A>T c.(562-564)ggA>ggT p.G188G GRIP1_ENST00000398016.3_Silent_p.G188G|GRIP1_ENST00000286445.7_Silent_p.G188G Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 188 PDZ 2. 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) CAGCAGGCCCTCCAGGACGAA 0.368000 16 40 0 0 0.004990 0 0 NLRP14 338323 broad.mit.edu 37 11 7063773 7063773 + Silent SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:7063773C>G ENST00000299481.4 + 4 862 c.516C>G c.(514-516)acC>acG p.T172T NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 172 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.T172T(2) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGTCAAAACCGGTGCACAGC 0.473000 27 40 0 0 0.007291 0 0 GPR32 2854 broad.mit.edu 37 19 51274107 51274107 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:51274107C>G ENST00000270590.4 + 1 387 c.250C>G c.(250-252)Ctg>Gtg p.L84V NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 84 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTTCTTCCACCTGGCCCTTGC 0.572000 11 28 0 0 0.008291 0 0 FER1L6 654463 broad.mit.edu 37 8 125058122 125058122 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:125058122C>A ENST00000522917.1 + 21 2910 c.2704C>A c.(2704-2706)Ctg>Atg p.L902M FER1L6_ENST00000399018.1_Missense_Mutation_p.L902M NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 902 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGTGGTGGAGCTGTATGACAG 0.522000 55 179 1.78197e-24 3.28091e-24 0.003610 1 0 NEIL3 55247 broad.mit.edu 37 4 178231233 178231233 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:178231233C>A ENST00000264596.3 + 1 244 c.126C>A c.(124-126)ctC>ctA p.L42L NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 42 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCTTGCGGCTCGCAGCCTCCA 0.657000 Base excision repair (BER), DNA glycosylases 9 7 1.76689e-08 2.65884e-08 0.006214 1 0 SHQ1 55164 broad.mit.edu 37 3 72881586 72881586 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:72881586G>C ENST00000325599.8 - 5 672 c.533C>G c.(532-534)cCt>cGt p.P178R SHQ1_ENST00000463369.1_Missense_Mutation_p.P150R NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 178 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TTCAGCTGCAGGGGTGAAATC 0.393000 25 63 0 0 0.005443 0 0 C6orf118 168090 broad.mit.edu 37 6 165713955 165713955 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:165713955C>T ENST00000543069.1 - 3 1043 c.462G>A c.(460-462)acG>acA p.T154T C6orf118_ENST00000230301.8_Silent_p.T258T Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 258 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GGGGGCTGCACGTGCAAATTT 0.433000 37 94 0 0 0.008740 0 0 NF1 4763 broad.mit.edu 37 17 29654858 29654858 + Splice_Site SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:29654858G>T ENST00000358273.4 + 38 5992 c.e38+1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CGAGTTTACGGTAGGTTTTTT 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 29 18 2.65835e-16 4.54679e-16 0.007291 1 0 PLEKHO1 51177 broad.mit.edu 37 1 150131394 150131394 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:150131394G>A ENST00000369124.4 + 6 1184 c.906G>A c.(904-906)ccG>ccA p.P302P PLEKHO1_ENST00000369126.1_Silent_p.P119P|PLEKHO1_ENST00000025469.6_Silent_p.P268P NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 302 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCCAACCCGGGGCAGCTGT 0.652000 22 68 0 0 0.001523 0 0 PDE3A 5139 broad.mit.edu 37 12 20766419 20766419 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:20766419G>A ENST00000359062.3 + 3 1094 c.1054G>A c.(1054-1056)Gag>Aag p.E352K PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 352 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E352K(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CGTCATGGGCGAGGCCCACGG 0.532000 21 75 0 0 0.001523 0 0 AHNAK 79026 broad.mit.edu 37 11 62285472 62285472 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:62285472C>T ENST00000378024.4 - 5 16691 c.16417G>A c.(16417-16419)Ggc>Agc p.G5473S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5473 Gly-rich. 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) ACAGTGGGGCCTTTGATCTCA 0.517000 25 60 0 0 0.003954 0 0 CHN1 1123 broad.mit.edu 37 2 175779863 175779863 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:175779863C>A ENST00000409900.3 - 5 496 c.183G>T c.(181-183)caG>caT p.Q61H CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.Q61H NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 61 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) CAATCAAGAGCTGGTCGGCTG 0.468000 T TAF15 extraskeletal myxoid chondrosarcoma 5 13 0.00116845 0.00154314 0.001168 1 0 OAS2 4939 broad.mit.edu 37 12 113445702 113445702 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:113445702G>C ENST00000392583.2 + 9 2056 c.1849G>C c.(1849-1851)Gat>Cat p.D617H RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.D617H NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 617 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CAACTTTGAAGATGAGACCGT 0.488000 51 122 0 0 0.003610 0 0 TWF1 5756 broad.mit.edu 37 12 44196223 44196223 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:44196223C>A ENST00000395510.2 - 3 277 c.148G>T c.(148-150)Gat>Tat p.D50Y TWF1_ENST00000548315.1_Missense_Mutation_p.D50Y|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.D84Y NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 50 ADF-H 1. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) TAATCCTTATCCCAGGAATCT 0.358000 73 103 7.81431e-29 1.50054e-28 0.003610 1 0 MMP20 9313 broad.mit.edu 37 11 102480641 102480641 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:102480641G>T ENST00000260228.2 - 4 656 c.644C>A c.(643-645)aCg>aAg p.T215K RP11-817J15.2_ENST00000542119.1_RNA NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 215 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TATACCATTCGTTCCCATAGT 0.488000 15 51 0.000566183 0.000758952 0.004990 1 0 ZP3 7784 broad.mit.edu 37 7 76062954 76062954 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:76062954G>T ENST00000416245.1 + 3 1268 c.175G>T c.(175-177)Gac>Tac p.D59Y ZP3_ENST00000336517.4_Missense_Mutation_p.D184Y|ZP3_ENST00000394857.3_Missense_Mutation_p.D235Y P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 235 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CACCATCGTGGACTTCCATGG 0.547000 33 59 4.31634e-10 6.68818e-10 0.002445 1 0 KLHL18 23276 broad.mit.edu 37 3 47385112 47385112 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:47385112G>T ENST00000232766.5 + 10 1426 c.1406G>T c.(1405-1407)cGg>cTg p.R469L KLHL18_ENST00000455924.2_Missense_Mutation_p.R357L NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 469 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) AAGCGCTGCCGGCACGGAGCC 0.617000 23 38 3.7963e-18 6.65683e-18 0.003330 1 0 CSMD3 114788 broad.mit.edu 37 8 113249539 113249539 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:113249539C>A ENST00000297405.5 - 67 10751 c.10507G>T c.(10507-10509)Ggc>Tgc p.G3503C CSMD3_ENST00000352409.3_Missense_Mutation_p.G3433C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3463C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3334C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3503 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGTAAGAGCCTTTCCATATA 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 98 0.00307968 0.00399975 0.003080 1 0 PIPOX 51268 broad.mit.edu 37 17 27371935 27371935 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:27371935C>T ENST00000323372.4 + 2 499 c.173C>T c.(172-174)gCg>gTg p.A58V PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 58 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) ATCCGAAAGGCGTACCTGGAA 0.527000 26 52 0 0 0.003954 0 0 AKT2 208 broad.mit.edu 37 19 40745982 40745982 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:40745982G>A ENST00000392038.2 - 7 907 c.609C>T c.(607-609)gtC>gtT p.V203V AKT2_ENST00000579047.1_Silent_p.V141V|AKT2_ENST00000311278.6_Silent_p.V203V|AKT2_ENST00000424901.1_Silent_p.V203V NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 203 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TGTTCTGGAGGACCCGGCTCT 0.627000 A """ovarian, pancreatic """ 49 128 0 0 0.003610 0 0 FLNA 2316 broad.mit.edu 37 X 153590478 153590478 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:153590478C>A ENST00000422373.1 - 19 2943 c.2695G>T c.(2695-2697)Gcc>Tcc p.A899S FLNA_ENST00000344736.4_Missense_Mutation_p.A899S|FLNA_ENST00000360319.4_Missense_Mutation_p.A899S|FLNA_ENST00000369850.3_Missense_Mutation_p.A899S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 899 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGCTTTGGCATTTACTGTG 0.577000 18 95 2.48551e-13 4.06247e-13 0.004990 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713251 142713251 + RNA SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:142713251C>A ENST00000369381.2 - 0 1354 TCATACATCTCTTTCATTTCC 0.383000 11 47 2.80697e-09 4.26497e-09 0.000978 1 0 CRTAC1 55118 broad.mit.edu 37 10 99667803 99667803 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:99667803C>T ENST00000370597.3 - 6 1172 c.817G>A c.(817-819)Gat>Aat p.D273N CRTAC1_ENST00000370591.2_Missense_Mutation_p.D273N|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D273N NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 273 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AAGGTGCCATCGCCCCGGTTG 0.632000 5 33 0 0 0.000602 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103157037 103157037 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:103157037G>T ENST00000375735.2 + 74 11088 c.10944G>T c.(10942-10944)tgG>tgT p.W3648C DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3655C NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3648 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CAGCTCTGTGGCGTACTTATT 0.343000 46 146 7.88023e-25 1.45947e-24 0.003610 1 0 DUSP2 1844 broad.mit.edu 37 2 96810004 96810004 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:96810004C>T ENST00000288943.4 - 3 704 c.619G>A c.(619-621)Gcc>Acc p.A207T NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 207 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) GGGCAGCTGGCGGACACGTTG 0.597000 15 69 0 0 0.006122 0 0 PSTK 118672 broad.mit.edu 37 10 124742257 124742257 + Missense_Mutation SNP A A T rs144827828 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:124742257A>T ENST00000405485.1 + 2 291 c.225A>T c.(223-225)caA>caT p.Q75H PSTK_ENST00000368887.3_Missense_Mutation_p.Q75H|PSTK_ENST00000497219.1_3'UTR Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 75 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) AGCCATCCCAATGGAAATTGC 0.468000 27 32 0 0 0.002096 0 0 SNHG14 104472715 broad.mit.edu 37 15 25423957 25423957 + RNA SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:25423957G>T ENST00000441592.2 + 0 399 SNORD115-5_ENST00000363633.1_RNA ATAGGATTACGCTGAGGCCCA 0.512000 69 170 5.94106e-25 1.10688e-24 0.003610 1 0 SLAIN2 57606 broad.mit.edu 37 4 48384741 48384741 + Missense_Mutation SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:48384741A>C ENST00000264313.6 + 5 1437 c.1019A>C c.(1018-1020)aAc>aCc p.N340T SLAIN2_ENST00000512093.1_Missense_Mutation_p.N147T NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 340 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CCTGCTGTTAACAGGTTTTCA 0.438000 17 61 0 0 0.008871 0 0 NRL 4901 broad.mit.edu 37 14 24551994 24551994 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:24551994C>G ENST00000561028.1 - 2 383 c.64G>C c.(64-66)Gag>Cag p.E22Q NRL_ENST00000397002.2_Missense_Mutation_p.E22Q|NRL_ENST00000396997.1_Missense_Mutation_p.E22Q P54845 NRL_HUMAN neural retina leucine zipper 22 response to stimulus|transcription from RNA polymerase II promoter|visual perception nucleus leucine zipper domain binding|sequence-specific DNA binding lung(2) 2 GBM - Glioblastoma multiforme(265;0.0181) CGCTTTACCTCAAACTTCATC 0.592000 13 35 0 0 0.002450 0 0 RCC2 55920 broad.mit.edu 37 1 17742997 17742997 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:17742997C>A ENST00000375436.4 - 8 1192 c.1005G>T c.(1003-1005)gtG>gtT p.V335V RCC2_ENST00000375433.3_Silent_p.V335V NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 335 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CGCCACAGGCCACGTCTCGTA 0.532000 11 23 0.00185496 0.0024293 0.001855 1 0 FAM47C 442444 broad.mit.edu 37 X 37028839 37028839 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:37028839C>A ENST00000358047.3 + 1 2408 c.2356C>A c.(2356-2358)Ctc>Atc p.L786I NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 786 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGTATCCAGTCTCCACCTGGA 0.622000 23 71 7.87624e-14 1.30093e-13 0.002780 1 0 LDLR 3949 broad.mit.edu 37 19 11233888 11233888 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:11233888G>A ENST00000558518.1 + 15 2366 c.2179G>A c.(2179-2181)Gtc>Atc p.V727I LDLR_ENST00000545707.1_Missense_Mutation_p.V549I|LDLR_ENST00000535915.1_Missense_Mutation_p.V686I|LDLR_ENST00000558013.1_Missense_Mutation_p.V727I|LDLR_ENST00000557933.1_Missense_Mutation_p.V727I|LDLR_ENST00000455727.2_Missense_Mutation_p.V559I NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 727 Clustered O-linked oligosaccharides. 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 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) GACATCCACCGTCAGGCTAAA 0.602000 18 53 0 0 0.007413 0 0 ZDHHC20 253832 broad.mit.edu 37 13 21956072 21956072 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:21956072C>G ENST00000320220.9 - 11 1060 c.957G>C c.(955-957)caG>caC p.Q319H ZDHHC20_ENST00000415724.1_Intron|ZDHHC20_ENST00000400590.3_Intron|ZDHHC20_ENST00000382466.3_Intron|ZDHHC20_ENST00000494731.1_Intron|ZDHHC20_ENST00000542645.1_Intron Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 0 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) CTTTCTACCTCTGCAGTTTAG 0.413000 10 8 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 215848193 215848193 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:215848193C>A ENST00000366943.2 - 63 13446 c.13060G>T c.(13060-13062)Gct>Tct p.A4354S USH2A_ENST00000307340.3_Missense_Mutation_p.A4354S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4354 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGGAGCAGCCTCCAGAGTT 0.512000 HNSCC(13;0.011) 6 18 0.00116845 0.00154314 0.001168 1 0 NCOA4 8031 broad.mit.edu 37 10 51585080 51585080 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:51585080C>A ENST00000452682.1 + 9 1479 c.1227C>A c.(1225-1227)aaC>aaA p.N409K NCOA4_ENST00000374082.1_Missense_Mutation_p.N393K|NCOA4_ENST00000414907.2_Missense_Mutation_p.N227K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N393K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N293K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N393K|NCOA4_ENST00000438493.1_Missense_Mutation_p.N409K|NCOA4_ENST00000443446.1_Missense_Mutation_p.N393K NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 393 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TTGTCCAGAACCATCAGGACC 0.512000 T RET papillary thyroid 7 64 3.09899e-07 4.5862e-07 0.004482 1 0 NFATC2IP 84901 broad.mit.edu 37 16 28970178 28970178 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:28970178C>T ENST00000320805.4 + 6 1062 c.987C>T c.(985-987)atC>atT p.I329I RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000568148.1_Silent_p.I37I|NFATC2IP_ENST00000564978.1_Silent_p.I50I NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 329 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 TGGCTGACATCATTGGTGAGA 0.587000 10 38 0 0 0.008291 0 0 CNP 1267 broad.mit.edu 37 17 40125781 40125781 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:40125781C>T ENST00000393892.2 + 4 1249 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W CNP_ENST00000393888.1_Missense_Mutation_p.R349W|CNP_ENST00000591072.1_Missense_Mutation_p.R134W|CNP_ENST00000472031.1_3'UTR NM_033133.4 NP_149124.3 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 369 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 9 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) CGAGCTAAGCCGGGGCAAGCT 0.622000 5 37 0 0 0.001168 0 0 OSR2 116039 broad.mit.edu 37 8 99961691 99961691 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:99961691G>C ENST00000297565.4 + 2 1007 c.511G>C c.(511-513)Gag>Cag p.E171Q OSR2_ENST00000523368.1_Missense_Mutation_p.E171Q|OSR2_ENST00000435298.2_Missense_Mutation_p.E171Q|OSR2_ENST00000522510.1_Missense_Mutation_p.E171Q|OSR2_ENST00000457907.2_Missense_Mutation_p.E292Q NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 171 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) AACGAAAAAAGAGTTTATCTG 0.517000 56 373 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179453672 179453672 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:179453672C>T ENST00000589042.1 - 304 63004 c.62780G>A c.(62779-62781)cGt>cAt p.R20927H TTN_ENST00000342175.6_Missense_Mutation_p.R12054H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19286H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18359H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11862H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11987H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19286 Ig-like 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R12054H(1)|p.R11862H(1)|p.R11987H(1)|p.R18357H(1)|p.R18359H(1) 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) TTCTATGAGACGTGTTACTGT 0.383000 10 30 0 0 0.008291 0 0 NSMAF 8439 broad.mit.edu 37 8 59502047 59502047 + Silent SNP G G A rs140144207 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:59502047G>A ENST00000038176.3 - 26 2387 c.2175C>T c.(2173-2175)aaC>aaT p.N725N NSMAF_ENST00000427130.2_Silent_p.N756N NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 725 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AATATAGCCTGTTGTCATGCC 0.343000 50 26 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238268750 238268750 + Missense_Mutation SNP G G A rs113896755 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:238268750G>A ENST00000295550.4 - 17 6715 c.6263C>T c.(6262-6264)cCg>cTg p.P2088L COL6A3_ENST00000347401.3_Missense_Mutation_p.P1887L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1481L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1888L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1882L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1882L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2088 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCTCTGGCCCGGGCAGCCCTG 0.607000 10 23 0 0 0.001368 0 0 ATP2B2 491 broad.mit.edu 37 3 10400586 10400586 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:10400586G>T ENST00000397077.1 - 13 2365 c.1790C>A c.(1789-1791)gCg>gAg p.A597E ATP2B2_ENST00000352432.4_Missense_Mutation_p.A642E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A628E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A597E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A642E Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 642 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 AGGCTCTCCCGCCCCATTGAG 0.612000 7 24 0.000274275 0.000370035 0.004482 1 0 ARHGEF2 9181 broad.mit.edu 37 1 155932975 155932975 + Splice_Site SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:155932975C>T ENST00000368316.1 - 12 1111 c.e12-1 ARHGEF2_ENST00000361247.4_Splice_Site|ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.3_Splice_Site Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGATTAGCTCTGTGGGGGAC 0.552000 9 81 0 0 0.000978 0 0 RPTN 126638 broad.mit.edu 37 1 152129178 152129178 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:152129178G>A ENST00000316073.3 - 3 461 c.397C>T c.(397-399)Cac>Tac p.H133Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 133 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACTGTGGTGGGAGTTCTGC 0.527000 78 604 0 0 0.003610 0 0 KARS 3735 broad.mit.edu 37 16 75665656 75665656 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:75665656C>A ENST00000319410.5 - 9 1218 c.1097G>T c.(1096-1098)tGt>tTt p.C366F KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.C338F NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 338 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) GTAGAACTCACAGGTGGTGAA 0.493000 33 71 5.8336e-16 9.9505e-16 0.003271 1 0 DRGX 644168 broad.mit.edu 37 10 50594830 50594830 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:50594830C>A ENST00000374139.2 - 4 319 c.309G>T c.(307-309)aaG>aaT p.K103N DRGX_ENST00000434016.1_Missense_Mutation_p.K108N C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 108 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CCATGGGCTCCTTGGCTCCTG 0.597000 109 202 7.56076e-47 1.48838e-46 0.003610 1 0 GABRA5 2558 broad.mit.edu 37 15 27128317 27128317 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:27128317C>T ENST00000335625.5 + 5 1101 c.213C>T c.(211-213)cgC>cgT p.R71R GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Silent_p.R71R|GABRA5_ENST00000400081.3_Silent_p.R71R|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 71 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTCAGAGCGCATCACTCAGG 0.612000 9 19 0 0 0.004482 0 0 ZIC5 85416 broad.mit.edu 37 13 100622427 100622427 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:100622427G>C ENST00000267294.4 - 1 1736 c.1503C>G c.(1501-1503)gtC>gtG p.V501V NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 501 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGCGCGCGAAGACCTTGCCGC 0.657000 15 51 0 0 0.004007 0 0 RIMS2 9699 broad.mit.edu 37 8 105263841 105263841 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:105263841G>T ENST00000507740.1 + 22 3521 c.3285G>T c.(3283-3285)tgG>tgT p.W1095C RIMS2_ENST00000262231.10_Missense_Mutation_p.W1120C|RIMS2_ENST00000339750.2_Missense_Mutation_p.W217C|RIMS2_ENST00000406091.3_Missense_Mutation_p.W1281C|RIMS2_ENST00000436393.2_Missense_Mutation_p.W1299C NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1343 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCATCGTCTGGGGAGATTATG 0.363000 HNSCC(12;0.0054) 25 173 5.61819e-17 9.71543e-17 0.005443 1 0 GH2 2689 broad.mit.edu 37 17 61957720 61957720 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:61957720G>C ENST00000423893.2 - 5 676 c.615C>G c.(613-615)atC>atG p.I205M GH2_ENST00000449787.2_Missense_Mutation_p.I190M|GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000332800.7_3'UTR P01242 SOM2_HUMAN growth hormone 2 205 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GGCACTGCACGATGCGCAGGA 0.587000 36 129 0 0 0.003755 0 0 UQCC1 55245 broad.mit.edu 37 20 33891826 33891826 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:33891826C>A ENST00000374385.5 - 10 989 c.812G>T c.(811-813)gGg>gTg p.G271V UQCC_ENST00000349714.5_Missense_Mutation_p.G244V|UQCC_ENST00000407996.2_Missense_Mutation_p.G134V|UQCC_ENST00000397556.3_Missense_Mutation_p.G172V|UQCC_ENST00000374377.5_Missense_Mutation_p.G159V|UQCC_ENST00000374380.2_Missense_Mutation_p.G203V|UQCC_ENST00000374384.2_Missense_Mutation_p.G245V|UQCC_ENST00000359226.2_Missense_Mutation_p.G191V|UQCC_ENST00000540457.1_Missense_Mutation_p.G116V NM_018244.4 NP_060714.3 Q9NVA1 UQCC_HUMAN 271 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCTCACCTCCCCTGTCAGAAG 0.597000 OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 91 2.2871e-25 4.29946e-25 0.007835 1 0 OR14K1 343170 broad.mit.edu 37 1 247901950 247901950 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:247901950C>A ENST00000283225.2 + 1 34 c.34C>A c.(34-36)Ctt>Att p.L12I RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GGAATTCTTGCTTGTGAGATT 0.388000 16 31 6.94344e-10 1.06796e-09 0.006122 1 0 BCOR 54880 broad.mit.edu 37 X 39933351 39933351 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:39933351T>A ENST00000342274.4 - 4 1610 c.1248A>T c.(1246-1248)caA>caT p.Q416H BCOR_ENST00000378444.4_Missense_Mutation_p.Q416H|BCOR_ENST00000397354.3_Missense_Mutation_p.Q416H|BCOR_ENST00000378455.4_Missense_Mutation_p.Q416H NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 416 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTTTTCTGTCTTGAACCGCTG 0.577000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 6 18 0 0 0.001168 0 0 CLINT1 9685 broad.mit.edu 37 5 157232902 157232902 + Nonsense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:157232902G>C ENST00000523094.1 - 7 1065 c.860C>G c.(859-861)tCa>tGa p.S287* CLINT1_ENST00000411809.2_Nonsense_Mutation_p.S305*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.S287*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.S287*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.S305* NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 305 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTGTGGGTTGAAGCATTCTG 0.428000 11 39 0 0 0.001855 0 0 C17orf77 146723 broad.mit.edu 37 17 72588734 72588734 + Nonsense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:72588734C>A ENST00000392620.1 + 3 911 c.549C>A c.(547-549)tgC>tgA p.C183* C17orf77_ENST00000328023.2_Nonsense_Mutation_p.C183* NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 183 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 ATGAGGAGTGCAGGGAGAGGA 0.617000 15 11 2.31682e-05 3.24459e-05 0.003163 1 0 KIFAP3 22920 broad.mit.edu 37 1 169890871 169890871 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:169890871G>T ENST00000367765.1 - 20 3706 c.2205C>A c.(2203-2205)gcC>gcA p.A735A KIFAP3_ENST00000361580.2_Silent_p.A775A|KIFAP3_ENST00000538366.1_Silent_p.A697A|KIFAP3_ENST00000367767.1_Silent_p.A731A|KIFAP3_ENST00000540905.1_Silent_p.A477A NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 775 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATATGCTGTGGCAGGGCGTC 0.408000 7 24 0.000274275 0.000370035 0.004482 1 0 SUPT6H 6830 broad.mit.edu 37 17 27014370 27014370 + Missense_Mutation SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:27014370A>G ENST00000314616.6 + 23 3170 c.2887A>G c.(2887-2889)Atc>Gtc p.I963V SUPT6H_ENST00000347486.4_Missense_Mutation_p.I963V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 963 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CTGTGAATTTATCAACCGAGT 0.537000 20 45 0 0 0.003330 0 0 OR13C8 138802 broad.mit.edu 37 9 107332133 107332133 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:107332133C>G ENST00000335040.1 + 1 685 c.685C>G c.(685-687)Cct>Gct p.P229A NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTGAGGATTCCTTCCACTGA 0.408000 18 65 0 0 0.004990 0 0 CD99L2 83692 broad.mit.edu 37 X 149945922 149945922 + Missense_Mutation SNP C C A rs149951842 byFrequency TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:149945922C>A ENST00000370377.3 - 8 647 c.530G>T c.(529-531)gGa>gTa p.G177V CD99L2_ENST00000355149.3_Missense_Mutation_p.G105V|CD99L2_ENST00000466436.1_Missense_Mutation_p.G128V|CD99L2_ENST00000437787.2_Missense_Mutation_p.G104V|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 177 cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCCACCAGATCCAGGGTCGTC 0.537000 14 68 1.52009e-12 2.45886e-12 0.003163 1 0 OR8H2 390151 broad.mit.edu 37 11 55872786 55872786 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:55872786A>T ENST00000313503.1 + 1 268 c.268A>T c.(268-270)Aac>Tac p.N90Y NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACTGACTTCCAACTATATTTC 0.428000 HNSCC(53;0.14) 161 215 0 0 0.003610 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633580 70633580 + Silent SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:70633580T>C ENST00000381269.2 - 2 2313 c.1560A>G c.(1558-1560)acA>acG p.T520T SLC8A3_ENST00000356921.2_Silent_p.T520T|SLC8A3_ENST00000528359.1_Silent_p.T520T|SLC8A3_ENST00000357887.3_Silent_p.T520T|SLC8A3_ENST00000534137.1_Silent_p.T520T NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 520 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGATGGTAACTGTGGCCACAC 0.507000 19 24 0 0 0.006122 0 0 TNPO2 30000 broad.mit.edu 37 19 12817069 12817069 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:12817069T>A ENST00000425528.1 - 15 1966 c.1609A>T c.(1609-1611)Atc>Ttc p.I537F TNPO2_ENST00000592287.1_Missense_Mutation_p.I537F|TNPO2_ENST00000441499.1_Missense_Mutation_p.I537F|TNPO2_ENST00000588216.1_Missense_Mutation_p.I537F|TNPO2_ENST00000356861.5_Missense_Mutation_p.I537F|TNPO2_ENST00000450764.2_Missense_Mutation_p.I537F O14787 TNPO2_HUMAN transportin 2 537 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCATAGAGGATGAGCAGGTTC 0.622000 16 13 0 0 0.004007 0 0 TMEM196 256130 broad.mit.edu 37 7 19765177 19765177 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:19765177C>G ENST00000405844.1 - 3 1114 c.419G>C c.(418-420)aGg>aCg p.R140T TMEM196_ENST00000493519.1_Missense_Mutation_p.R72T|TMEM196_ENST00000422233.1_Missense_Mutation_p.R72T|TMEM196_ENST00000405764.3_Missense_Mutation_p.R140T|TMEM196_ENST00000433641.1_Missense_Mutation_p.R72T Q5HYL7 TM196_HUMAN transmembrane protein 196 146 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GGAATGCTCCCTTTCTGAGAA 0.498000 13 38 0 0 0.001855 0 0 PAPOLB 56903 broad.mit.edu 37 7 4901207 4901207 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:4901207C>G ENST00000404991.1 - 1 418 c.232G>C c.(232-234)Gaa>Caa p.E78Q RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 78 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding p.E78K(1) kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TCACTGATTTCGCGTATCCAT 0.423000 8 27 0 0 0.003080 0 0 HELZ 9931 broad.mit.edu 37 17 65110490 65110490 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:65110490C>T ENST00000358691.5 - 28 4034 c.3868G>A c.(3868-3870)Gaa>Aaa p.E1290K HELZ_ENST00000580168.1_Missense_Mutation_p.E1291K NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TTATTAATTTCAGGTCCGGAA 0.343000 11 95 0 0 0.002450 0 0 CFAP54 144535 broad.mit.edu 37 12 97078969 97078969 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:97078969C>A ENST00000524981.3 + 9 1320 c.1320C>A c.(1318-1320)ggC>ggA p.G440G Q6ZTY8 CL063_HUMAN 414 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CAAGAGTTGGCATCTGGGGGT 0.498000 13 43 1.49906e-05 2.10879e-05 0.002450 1 0 OSR1 130497 broad.mit.edu 37 2 19553371 19553371 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:19553371G>A ENST00000536433.1 - 1 3306 c.196C>T c.(196-198)Cgc>Tgc p.R66C OSR1_ENST00000272223.2_Missense_Mutation_p.R66C Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 66 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AAAGAAGAGCGCGGCAAGTGC 0.607000 9 36 0 0 0.004482 0 0 PI4KB 5298 broad.mit.edu 37 1 151274762 151274762 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:151274762C>T ENST00000368875.2 - 8 2149 c.1569G>A c.(1567-1569)tcG>tcA p.S523S PI4KB_ENST00000529142.1_Silent_p.S179S|PI4KB_ENST00000271657.5_Silent_p.S523S|PI4KB_ENST00000368874.4_Silent_p.S496S|PI4KB_ENST00000368873.1_Silent_p.S511S|PI4KB_ENST00000368872.1_Silent_p.S496S NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 511 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGCTGTTCCGAAAGGCGCC 0.537000 31 174 0 0 0.002445 0 0 DNAH17 8632 broad.mit.edu 37 17 76562785 76562785 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:76562785C>T ENST00000389840.5 - 11 1604 c.1480G>A c.(1480-1482)Gag>Aag p.E494K DNAH17_ENST00000585328.1_Missense_Mutation_p.E494K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATTTTGATCTCAAAATCAGCA 0.468000 8 29 0 0 0.004482 0 0 ANO5 203859 broad.mit.edu 37 11 22294412 22294412 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:22294412G>T ENST00000324559.8 + 19 2429 c.2112G>T c.(2110-2112)gaG>gaT p.E704D ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 704 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATATTGTAGAGATTCGAGTGG 0.378000 34 32 1.22384e-17 2.13404e-17 0.002836 1 0 C1orf173 127254 broad.mit.edu 37 1 75037631 75037631 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:75037631C>G ENST00000326665.5 - 14 3981 c.3763G>C c.(3763-3765)Gag>Cag p.E1255Q C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1255 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTCTCCCCTCCAGTCCTGCG 0.592000 27 64 0 0 0.003954 0 0 SPTLC2 9517 broad.mit.edu 37 14 77978644 77978644 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:77978644C>G ENST00000216484.2 - 12 1865 c.1672G>C c.(1672-1674)Gaa>Caa p.E558Q NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 558 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCTGTTTCTTCATACGTCGTC 0.512000 28 43 0 0 0.002096 0 0 ETNPPL 64850 broad.mit.edu 37 4 109670459 109670459 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:109670459A>T ENST00000296486.3 - 8 1016 c.862T>A c.(862-864)Tgt>Agt p.C288S ETNPPL_ENST00000411864.2_Missense_Mutation_p.C282S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.C230S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.C248S NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase GTTACCACACATGCCACCGGG 0.453000 18 87 0 0 0.006122 0 0 IQSEC3 440073 broad.mit.edu 37 12 176425 176425 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:176425G>T ENST00000538872.1 + 1 495 c.377G>T c.(376-378)cGg>cTg p.R126L IQSEC3_ENST00000326261.4_Missense_Mutation_p.R126L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 126 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CAGCCCCAGCGGGGCCCTGGC 0.711000 5 43 8.12818e-05 0.00011183 0.001984 1 0 OR5H6 79295 broad.mit.edu 37 3 97983941 97983941 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:97983941C>T ENST00000383696.2 + 1 854 c.813C>T c.(811-813)ctC>ctT p.L271L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ATGGCCCCCTCACCTTCAAAT 0.408000 14 66 0 0 0.002450 0 0 CASR 846 broad.mit.edu 37 3 121980671 121980671 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:121980671G>A ENST00000498619.1 + 4 1227 c.789G>A c.(787-789)acG>acA p.T263T CASR_ENST00000490131.1_Silent_p.T263T|CASR_ENST00000296154.5_Silent_p.T263T NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 263 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AAAATTCCACGGCCAAAGTCA 0.517000 127 63 0 0 0.003610 0 0 PTGER3 5733 broad.mit.edu 37 1 71418726 71418726 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:71418726T>A ENST00000356595.4 - 4 1331 c.1121A>T c.(1120-1122)cAg>cTg p.Q374L PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_3'UTR NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) ctgagagttctgcaaactgca 0.333000 20 36 0 0 0.008871 0 0 MYO3A 53904 broad.mit.edu 37 10 26305776 26305776 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:26305776G>T ENST00000265944.5 + 7 702 c.536G>T c.(535-537)cGg>cTg p.R179L MYO3A_ENST00000376302.1_Missense_Mutation_p.R179L|MYO3A_ENST00000376301.1_Missense_Mutation_p.R179L|MYO3A_ENST00000543632.1_Missense_Mutation_p.R179L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 179 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ACCAGTACCCGGCACCGTCGG 0.433000 10 43 0.000673444 0.000895066 0.008291 1 0 AIRE 326 broad.mit.edu 37 21 45712930 45712930 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr21:45712930C>G ENST00000291582.5 + 10 1277 c.1150C>G c.(1150-1152)Ccc>Gcc p.P384A AIRE_ENST00000355347.4_Missense_Mutation_p.P177A|AIRE_ENST00000329347.4_Intron NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 384 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) ACCTGGGGAACCCCTAGCCGG 0.697000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 24 15 0 0 0.003330 0 0 DVL1 1855 broad.mit.edu 37 1 1277490 1277490 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:1277490T>A ENST00000378888.5 - 4 693 c.409A>T c.(409-411)Acg>Tcg p.T137S DVL1_ENST00000378891.5_Missense_Mutation_p.T137S O14640 DVL1_HUMAN dishevelled segment polarity protein 1 137 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATGGACTCCGTGCCTGTCTCG 0.677000 3 10 0 0 0.000602 0 0 BTNL8 79908 broad.mit.edu 37 5 180377380 180377380 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:180377380C>T ENST00000340184.4 + 8 1545 c.1339C>T c.(1339-1341)Ccg>Tcg p.P447S BTNL8_ENST00000400707.3_Missense_Mutation_p.P322S|BTNL8_ENST00000511704.1_Missense_Mutation_p.P331S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P240S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P263S|BTNL8_ENST00000231229.4_3'UTR NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 447 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATTGAGTATCCGTCCTATAA 0.473000 34 304 0 0 0.004878 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585458 70585458 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:70585458C>A ENST00000260126.3 - 10 2899 c.2193G>T c.(2191-2193)gtG>gtT p.V731V SLCO5A1_ENST00000530307.1_Silent_p.V676V|SLCO5A1_ENST00000524945.1_3'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 731 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GAAACGACGTCACGTTGTACT 0.458000 44 191 1.02591e-13 1.68561e-13 0.002522 1 0 ZNF165 7718 broad.mit.edu 37 6 28057124 28057124 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:28057124G>T ENST00000377325.1 + 4 1890 c.1334G>T c.(1333-1335)cGa>cTa p.R445L NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 445 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CATCTTATTCGACACTTTAGA 0.438000 8 25 0.000274275 0.000370035 0.004482 1 0 TENM1 10178 broad.mit.edu 37 X 124029982 124029982 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:124029982G>T ENST00000422452.2 - 2 389 c.326C>A c.(325-327)aCa>aAa p.T109K TENM1_ENST00000371130.3_Missense_Mutation_p.T109K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTCTGTCTCTGTGTCCACATC 0.507000 59 204 8.52622e-23 1.52935e-22 0.003610 1 0 TMEM255B 348013 broad.mit.edu 37 13 114472084 114472084 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:114472084C>A ENST00000375353.3 + 3 230 c.203C>A c.(202-204)tCt>tAt p.S68Y NM_182614.2 NP_872420.1 transmembrane protein 255B GGCTTTGGATCTTTCTTAGGA 0.443000 24 45 7.4402e-23 1.34224e-22 0.003954 1 0 KRTAP6-3 337968 broad.mit.edu 37 21 31965031 31965031 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr21:31965031C>A ENST00000391624.1 + 1 273 c.246C>A c.(244-246)caC>caA p.H82Q NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 ATGTCTCCCACTCCTTCTGTG 0.572000 7 26 8.12818e-05 0.00011183 0.001984 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140769383 140769383 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140769383G>T ENST00000519479.1 + 1 1932 c.1932G>T c.(1930-1932)gtG>gtT p.V644V PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCGCCGTGCGTGACGGTG 0.697000 34 18 1.06647e-15 1.80925e-15 0.003755 1 0 DKK2 27123 broad.mit.edu 37 4 107845305 107845305 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:107845305C>A ENST00000285311.3 - 4 1291 c.586G>T c.(586-588)Gct>Tct p.A196S DKK2_ENST00000510463.1_Missense_Mutation_p.A150S|DKK2_ENST00000513208.1_Missense_Mutation_p.A96S NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 196 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) AAATGACGAGCACAGCAAAAC 0.483000 12 87 1.61879e-10 2.5208e-10 0.001368 1 0 PXDNL 137902 broad.mit.edu 37 8 52370113 52370113 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:52370113A>T ENST00000356297.4 - 9 1027 c.927T>A c.(925-927)aaT>aaA p.N309K PXDNL_ENST00000543296.1_Missense_Mutation_p.N309K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 309 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCCAGCGGAATTTCTGGCCA 0.438000 32 127 0 0 0.002096 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967966 161967966 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:161967966G>C ENST00000294794.3 - 6 1546 c.1123C>G c.(1123-1125)Ctg>Gtg p.L375V OLFML2B_ENST00000367940.2_Missense_Mutation_p.L376V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 375 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCTGTGGCAGTGCTGAGGAC 0.622000 35 331 0 0 0.007835 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975251 32975251 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:32975251G>A ENST00000229829.5 - 3 525 c.450C>T c.(448-450)aaC>aaT p.N150N HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.N120N NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 150 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity p.N150N(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CAGTTTGGCCGTTGCGCAGCC 0.587000 34 108 0 0 0.003271 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787383 109787383 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:109787383C>A ENST00000230122.3 - 7 1932 c.1765G>T c.(1765-1767)Gct>Tct p.A589S NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGATTAGCAGCCTGGTCTGCA 0.468000 64 23 2.84776e-26 5.41853e-26 0.003610 1 0 DQX1 165545 broad.mit.edu 37 2 74749872 74749872 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:74749872C>T ENST00000404568.3 - 8 1549 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K DQX1_ENST00000393951.2_Missense_Mutation_p.E444K NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 444 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 TCTAAATCTTCCAGGGCTTGC 0.532000 46 180 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82585370 82585370 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:82585370G>A ENST00000423517.2 - 5 5236 c.4899C>T c.(4897-4899)gaC>gaT p.D1633D PCLO_ENST00000333891.8_Silent_p.D1633D NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1564 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 ATGCTTCATCGTCTTCATCAT 0.428000 79 158 0 0 0.003610 0 0 NSG1 27065 broad.mit.edu 37 4 4411341 4411341 + Nonsense_Mutation SNP C C A rs139819280 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:4411341C>A ENST00000421177.2 + 8 2279 c.288C>A c.(286-288)tgC>tgA p.C96* NSG1_ENST00000433139.2_Nonsense_Mutation_p.C96*|NSG1_ENST00000504171.1_Nonsense_Mutation_p.C57*|NSG1_ENST00000397958.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000513555.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000506380.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000505246.1_Nonsense_Mutation_p.C96* TCCTCACCTGCGTCGTCTTCC 0.607000 16 66 1.15919e-05 1.63804e-05 0.008871 1 0 DNAH3 55567 broad.mit.edu 37 16 21073803 21073803 + Splice_Site SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:21073803C>A ENST00000261383.3 - 25 3719 c.3720_splice c.e25+1 p.K1240_splice DNAH3_ENST00000415178.1_Splice_Site_p.K1240_splice NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1240 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGGAGTTACCTTGGCATTAG 0.438000 25 45 4.4004e-07 6.48153e-07 0.003330 1 0 HIST1H3C 8352 broad.mit.edu 37 6 26045930 26045930 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr6:26045930G>A ENST00000540144.1 + 1 292 c.292G>A c.(292-294)Gag>Aag p.E98K NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GGAGGCTTGTGAGGCCTACCT 0.577000 15 56 0 0 0.004990 0 0 MROH9 80133 broad.mit.edu 37 1 170927673 170927673 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:170927673G>C ENST00000367759.4 + 4 298 c.144G>C c.(142-144)gtG>gtC p.V48V MROH9_ENST00000367758.3_Silent_p.V48V NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TCCTGGCTGTGAACTCCAGGT 0.313000 17 46 0 0 0.006122 0 0 ANO3 63982 broad.mit.edu 37 11 26620502 26620502 + Missense_Mutation SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:26620502A>G ENST00000256737.3 + 16 2480 c.1628A>G c.(1627-1629)aAa>aGa p.K543R ANO3_ENST00000525139.1_Missense_Mutation_p.K527R|ANO3_ENST00000537978.1_Missense_Mutation_p.K527R|ANO3_ENST00000531568.1_Missense_Mutation_p.K397R NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 543 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCCTCAGACAAAGTCACTCGT 0.388000 13 40 0 0 0.001368 0 0 PDS5B 23047 broad.mit.edu 37 13 33281085 33281085 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr13:33281085A>T ENST00000315596.10 + 18 2057 c.1871A>T c.(1870-1872)cAa>cTa p.Q624L NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 624 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTTATTAAACAAGTGAACAAA 0.343000 19 30 0 0 0.001882 0 0 PCDH19 57526 broad.mit.edu 37 X 99663107 99663107 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:99663107C>A ENST00000373034.4 - 1 2164 c.489G>T c.(487-489)gtG>gtT p.V163V PCDH19_ENST00000255531.7_Silent_p.V163V|PCDH19_ENST00000420881.2_Silent_p.V163V NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 163 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGTAAGTCTGCACGCCAAAGC 0.637000 24 76 1.10923e-09 1.70191e-09 0.002780 1 0 POLR1B 84172 broad.mit.edu 37 2 113317097 113317097 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:113317097G>T ENST00000263331.5 + 9 2138 c.1558G>T c.(1558-1560)Gtt>Ttt p.V520F POLR1B_ENST00000417433.2_Missense_Mutation_p.V464F|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.V558F|POLR1B_ENST00000537335.1_Missense_Mutation_p.V309F NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 520 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CGTATGTGAGGTTGTCACACA 0.507000 35 35 2.09667e-21 3.73935e-21 0.003755 1 0 WNT2 7472 broad.mit.edu 37 7 116963035 116963035 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:116963035G>A ENST00000265441.3 - 1 308 c.9C>T c.(7-9)gcC>gcT p.A3A NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 3 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACCGAGAGGGGCGTTCATAT 0.647000 14 26 0 0 0.002450 0 0 HEATR1 55127 broad.mit.edu 37 1 236727928 236727928 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:236727928C>A ENST00000366582.3 - 32 4583 c.4469G>T c.(4468-4470)aGt>aTt p.S1490I HEATR1_ENST00000366581.2_Missense_Mutation_p.S1409I NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1490 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGTGATTCACTCTTATTAAA 0.363000 16 40 5.35267e-07 7.81065e-07 0.007413 1 0 ZBTB11 27107 broad.mit.edu 37 3 101390754 101390754 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:101390754G>C ENST00000461821.1 - 2 817 c.614C>G c.(613-615)aCt>aGt p.T205S ZBTB11_ENST00000312938.4_Intron O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGAAAAATAAGTCACCAAGGC 0.353000 18 14 0 0 0.004990 0 0 FREM1 158326 broad.mit.edu 37 9 14842328 14842328 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:14842328C>T ENST00000380881.4 - 10 2542 c.1727G>A c.(1726-1728)gGg>gAg p.G576E FREM1_ENST00000380880.3_Missense_Mutation_p.G575E|FREM1_ENST00000422223.2_Missense_Mutation_p.G575E Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 575 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAGTCCTGGCCCTGGCTTCTT 0.468000 30 29 0 0 0.008361 0 0 CNTN6 27255 broad.mit.edu 37 3 1418747 1418747 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:1418747C>A ENST00000446702.2 + 17 2781 c.2154C>A c.(2152-2154)gtC>gtA p.V718V CNTN6_ENST00000350110.2_Silent_p.V718V|CNTN6_ENST00000539053.1_Silent_p.V646V Q9UQ52 CNTN6_HUMAN contactin 6 718 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTGAACTCGTCATTACGTGGG 0.378000 24 55 1.96895e-08 2.95578e-08 0.002780 1 0 MRPL47 57129 broad.mit.edu 37 3 179322349 179322349 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:179322349A>T ENST00000476781.1 - 1 93 c.64T>A c.(64-66)Tcg>Acg p.S22T MRPL47_ENST00000392659.2_5'UTR|MRPL47_ENST00000259038.2_Missense_Mutation_p.S22T NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 22 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GTTATTAACGATCGGGAAGAT 0.507000 105 69 0 0 0.003610 0 0 C6 729 broad.mit.edu 37 5 41150094 41150094 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:41150094A>T ENST00000263413.3 - 16 2588 c.2324T>A c.(2323-2325)cTg>cAg p.L775Q C6_ENST00000337836.5_Missense_Mutation_p.L775Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 775 C5b-binding domain.|Complement control factor I module 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCTGTCCCAGCTGACAATG 0.383000 14 35 0 0 0.001855 0 0 C2CD3 26005 broad.mit.edu 37 11 73760518 73760518 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:73760518C>G ENST00000334126.7 - 27 5451 c.5225G>C c.(5224-5226)tGt>tCt p.C1742S C2CD3_ENST00000313663.7_Missense_Mutation_p.C1742S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1742 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GTACCAGCCACAGACAAACTG 0.502000 20 25 0 0 0.001523 0 0 SOGA2 23255 broad.mit.edu 37 18 8819028 8819028 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr18:8819028G>T ENST00000359865.3 + 13 3069 c.2927G>T c.(2926-2928)cGc>cTc p.R976L SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Missense_Mutation_p.R935L|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1295L|SOGA2_ENST00000400050.3_Missense_Mutation_p.R935L NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1286 GGCAACGTTCGCCCCTTTCCC 0.532000 50 26 6.34439e-16 1.07924e-15 0.003610 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604502 140604502 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140604502C>A ENST00000239449.4 + 1 1425 c.1425C>A c.(1423-1425)gcC>gcA p.A475A PCDHB14_ENST00000515856.2_Silent_p.A322A NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 475 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGTCAGCGCCACAGACAGAG 0.647000 113 76 3.87673e-39 7.60762e-39 0.003610 1 0 LRMP 4033 broad.mit.edu 37 12 25256954 25256954 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:25256954G>C ENST00000354454.3 + 18 1837 c.1008G>C c.(1006-1008)atG>atC p.M336I LRMP_ENST00000548766.1_Missense_Mutation_p.M336I|LRMP_ENST00000547044.1_Missense_Mutation_p.M336I NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 392 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TGGCTGGGATGGAAAATAATG 0.313000 6 33 0 0 0.001984 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338157 13338157 + RNA SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:13338157C>G ENST00000602906.1 + 0 175 kidney(3)|lung(1) 4 TTTTGCCTTTCAGGCAGAAAT 0.438000 10 34 0 0 0.008291 0 0 CRYGD 1421 broad.mit.edu 37 2 208986402 208986402 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:208986402A>T ENST00000264376.4 - 3 547 c.520T>A c.(520-522)Tcc>Acc p.S174T NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 174 cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) ATATTTCAGGAGAAATCTATG 0.453000 17 24 0 0 0.006122 0 0 FGF13 2258 broad.mit.edu 37 X 137793015 137793015 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:137793015G>C ENST00000315930.6 - 1 812 c.151C>G c.(151-153)Ctc>Gtc p.L51V FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 51 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GAGCCGAAGAGTTTGACCCGG 0.542000 19 160 0 0 0.008871 0 0 RP1L1 94137 broad.mit.edu 37 8 10465236 10465236 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:10465236C>A ENST00000382483.3 - 4 6595 c.6372G>T c.(6370-6372)gaG>gaT p.E2124D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2124 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGGCTGGGCCTCCCCTTCAG 0.627000 151 175 5.24422e-81 1.04218e-80 0.003610 1 0 MAGEA1 4100 broad.mit.edu 37 X 152482692 152482692 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:152482692C>G ENST00000356661.5 - 3 537 c.319G>C c.(319-321)Gct>Cct p.A107P NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 107 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCAAATCAGCCACCTTCTTA 0.502000 9 212 0 0 0.004482 0 0 TEX15 56154 broad.mit.edu 37 8 30701132 30701132 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:30701132G>T ENST00000256246.2 - 1 5476 c.5402C>A c.(5401-5403)tCc>tAc p.S1801Y NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1801 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAAGCAATCGGAACAATGCTC 0.328000 12 16 4.36969e-10 6.75414e-10 0.001855 1 0 ZNF208 7757 broad.mit.edu 37 19 22154452 22154452 + Silent SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:22154452A>G ENST00000397126.4 - 4 3532 c.3384T>C c.(3382-3384)ctT>ctC p.L1128L ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.L1000L(2)|p.L1128L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TATGTTTAGTAAGGATTGAGA 0.373000 4 54 0 0 0.000248 0 0 HAP1 9001 broad.mit.edu 37 17 39881304 39881304 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:39881304C>T ENST00000393939.2 - 10 1443 c.1434G>A c.(1432-1434)acG>acA p.T478T HAP1_ENST00000341193.5_Silent_p.T486T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.T555T|HAP1_ENST00000347901.4_Silent_p.T503T P54257 HAP1_HUMAN huntingtin-associated protein 1 531 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCTCCGCAGGCGTGAAATCTT 0.602000 84 250 0 0 0.003610 0 0 CHP2 63928 broad.mit.edu 37 16 23768583 23768583 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr16:23768583G>A ENST00000300113.2 + 6 899 c.476G>A c.(475-477)cGc>cAc p.R159H NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 159 EF-hand 4. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) ATCGCTGACCGCACGGTGCAG 0.572000 14 34 0 0 0.002450 0 0 NLRP2 55655 broad.mit.edu 37 19 55497540 55497540 + Silent SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:55497540T>A ENST00000543010.1 + 8 2366 c.2223T>A c.(2221-2223)gcT>gcA p.A741A NLRP2_ENST00000339757.7_Silent_p.A719A|NLRP2_ENST00000263437.6_Silent_p.A738A|NLRP2_ENST00000537859.1_Silent_p.A719A|NLRP2_ENST00000538819.1_Silent_p.A717A|NLRP2_ENST00000448584.2_Silent_p.A741A|NLRP2_ENST00000427260.2_Silent_p.A718A|NLRP2_ENST00000391721.4_Silent_p.A717A NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 741 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTTCCCCAGCTGATGCTCATC 0.448000 11 17 0 0 0.008291 0 0 STIL 6491 broad.mit.edu 37 1 47746501 47746501 + Silent SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:47746501A>G ENST00000360380.3 - 13 1992 c.1629T>C c.(1627-1629)gcT>gcC p.A543A STIL_ENST00000371877.3_Silent_p.A543A|STIL_ENST00000396221.2_Silent_p.A543A|STIL_ENST00000337817.5_Silent_p.A543A|STIL_ENST00000243182.6_Silent_p.A543A Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 543 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTACATTTCCAGCAGAAACTG 0.413000 25 64 0 0 0.004656 0 0 MXRA5 25878 broad.mit.edu 37 X 3248399 3248399 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:3248399G>A ENST00000217939.6 - 4 523 c.369C>T c.(367-369)ctC>ctT p.L123L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 123 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAGACCCTGGAGGGTCTGTC 0.453000 11 28 0 0 0.000978 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908279 164908279 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:164908279G>T ENST00000475390.1 - 2 783 c.340C>A c.(340-342)Cag>Aag p.Q114K SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q114K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 114 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGAATGTCCTGCAATGCATTG 0.343000 HNSCC(40;0.11) 33 14 2.48696e-23 4.53888e-23 0.003271 1 0 LPPR4 9890 broad.mit.edu 37 1 99772038 99772038 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:99772038C>A ENST00000370185.3 + 7 2261 c.1764C>A c.(1762-1764)gtC>gtA p.V588V LPPR4_ENST00000457765.1_Silent_p.V530V|LPPR4_ENST00000370184.1_Silent_p.V430V NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 588 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGCAGGGTGTCCTCCAAAGCA 0.532000 14 28 2.61681e-11 4.14715e-11 0.002450 1 0 CDX4 1046 broad.mit.edu 37 X 72667491 72667491 + Silent SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:72667491G>T ENST00000373514.2 + 1 402 c.402G>T c.(400-402)ggG>ggT p.G134G NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 134 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AGGCTGGCGGGTCGCTTGTCC 0.682000 10 25 5.16669e-11 8.14697e-11 0.000978 1 0 TNC 3371 broad.mit.edu 37 9 117800574 117800574 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:117800574C>T ENST00000350763.4 - 20 5889 c.5478G>A c.(5476-5478)gtG>gtA p.V1826V TNC_ENST00000542877.1_Silent_p.V1463V|TNC_ENST00000345230.3_Silent_p.V1189V|TNC_ENST00000341037.4_Silent_p.V1644V|TNC_ENST00000423613.2_Silent_p.V1553V|TNC_ENST00000535648.1_Silent_p.V1371V|TNC_ENST00000537320.1_Silent_p.V1189V|TNC_ENST00000346706.3_Silent_p.V1280V|TNC_ENST00000340094.3_Silent_p.V1462V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1826 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CATAACTGTCCACAGTGGCAA 0.512000 12 63 0 0 0.001368 0 0 SVEP1 79987 broad.mit.edu 37 9 113148263 113148263 + Silent SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr9:113148263A>G ENST00000401783.2 - 43 10488 c.10152T>C c.(10150-10152)tgT>tgC p.C3384C SVEP1_ENST00000374469.1_Silent_p.C3361C|SVEP1_ENST00000297826.5_Silent_p.C1310C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3384 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AACCTTCCCTACATTTGATGG 0.483000 23 68 0 0 0.003954 0 0 MTRR 4552 broad.mit.edu 37 5 7892945 7892945 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:7892945G>T ENST00000264668.2 + 11 1587 c.1557G>T c.(1555-1557)tgG>tgT p.W519C MTRR_ENST00000440940.2_Missense_Mutation_p.W492C NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 519 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GTACAGGCTGGCTGGCCTTGT 0.463000 38 27 2.75727e-19 4.87586e-19 0.004878 1 0 ARAP2 116984 broad.mit.edu 37 4 36195256 36195256 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:36195256G>C ENST00000303965.4 - 7 1990 c.1501C>G c.(1501-1503)Caa>Gaa p.Q501E NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 501 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CATCTCTTTTGAAACATGCGT 0.269000 12 37 0 0 0.001855 0 0 SNRK 54861 broad.mit.edu 37 3 43389872 43389872 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:43389872C>T ENST00000296088.7 + 7 2425 c.2121C>T c.(2119-2121)ttC>ttT p.F707F SNRK_ENST00000429705.2_Silent_p.F707F|SNRK_ENST00000437827.1_Silent_p.F501F|SNRK_ENST00000454177.1_Silent_p.F707F NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 707 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TAAAGTTTTTCTCTGACCACA 0.473000 20 40 0 0 0.001523 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169820 90169820 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:90169820G>A ENST00000333209.3 - 2 1960 c.1442C>T c.(1441-1443)aCa>aTa p.T481I NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 481 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCCATAACTTGTTTCAGCTTG 0.443000 32 74 0 0 0.004289 0 0 CENPB 1059 broad.mit.edu 37 20 3765998 3765998 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr20:3765998G>C ENST00000379751.4 - 1 1339 c.1133C>G c.(1132-1134)tCg>tGg p.S378W NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 378 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 GGCTATGTCCGAAGGCTCCAC 0.647000 4 9 0 0 0.000248 0 0 CLTC 1213 broad.mit.edu 37 17 57721648 57721648 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:57721648G>C ENST00000269122.3 + 2 328 c.54G>C c.(52-54)ctG>ctC p.L18L CLTC_ENST00000393043.1_Silent_p.L18L|CLTC_ENST00000579456.1_Silent_p.L18L NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 18 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) tccagaacctgggtatcaacc 0.408000 T """ALK, TFE3""" """ALCL, renal """ 6 34 0 0 0.003080 0 0 COL22A1 169044 broad.mit.edu 37 8 139737670 139737670 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:139737670G>T ENST00000303045.6 - 24 2599 c.2153C>A c.(2152-2154)cCc>cAc p.P718H COL22A1_ENST00000435777.1_Missense_Mutation_p.P718H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 718 Collagen-like 5.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GACACCAGGGGGTCCTGGAGG 0.577000 HNSCC(7;0.00092) 26 124 1.7881e-09 2.72348e-09 0.008361 1 0 PCDH15 65217 broad.mit.edu 37 10 55912898 55912898 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:55912898C>A ENST00000373965.2 - 15 2161 c.1767G>T c.(1765-1767)acG>acT p.T589T PCDH15_ENST00000395445.1_Silent_p.T589T|PCDH15_ENST00000437009.1_Silent_p.T582T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.T193T|PCDH15_ENST00000373957.3_Silent_p.T560T|PCDH15_ENST00000373955.1_Silent_p.T582T|PCDH15_ENST00000361849.3_Silent_p.T582T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Silent_p.T582T|PCDH15_ENST00000395432.2_Silent_p.T545T|PCDH15_ENST00000395438.1_Silent_p.T582T|PCDH15_ENST00000320301.6_Silent_p.T582T|PCDH15_ENST00000395430.1_Silent_p.T582T|PCDH15_ENST00000395433.1_Silent_p.T560T|PCDH15_ENST00000414778.1_Silent_p.T587T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 582 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTGCTTGGACCGTGAGTGCGT 0.473000 HNSCC(58;0.16) 55 79 3.28156e-27 6.28212e-27 0.003610 1 0 SERPINA13P 388007 broad.mit.edu 37 14 95107961 95107961 + RNA SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:95107961C>A ENST00000469935.1 + 0 566 NR_015340.1 CCTGGAGGGCCTGGGGTTCAC 0.647000 11 14 3.86212e-05 5.36072e-05 0.008291 1 0 CSNK1G2 1455 broad.mit.edu 37 19 1979753 1979753 + Silent SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:1979753G>A ENST00000255641.8 + 10 1500 c.1005G>A c.(1003-1005)ccG>ccA p.P335P NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 335 sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|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) ACCCACAGCCGACCCCCATCG 0.697000 7 14 0 0 0.001984 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407471 38407471 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:38407471G>C ENST00000351773.3 + 8 2222 c.1392G>C c.(1390-1392)gaG>gaC p.E464D ZNF37A_ENST00000361085.4_Missense_Mutation_p.E464D NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 464 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E464D(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ACACAGGGGAGAAACCTTTTG 0.413000 7 33 0 0 0.001984 0 0 RP1L1 94137 broad.mit.edu 37 8 10465235 10465235 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:10465235C>A ENST00000382483.3 - 4 6596 c.6373G>T c.(6373-6375)Gcc>Tcc p.A2125S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2125 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCTGGCTGGGCCTCCCCTTCA 0.627000 149 178 7.71122e-83 1.53733e-82 0.003610 1 0 TPK1 27010 broad.mit.edu 37 7 144288620 144288620 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:144288620C>G ENST00000549981.1 - 9 769 c.46G>C c.(46-48)Gac>Cac p.D16H TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.D133H|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 133 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATAATCTGGTCAAAACGCCCA 0.428000 16 44 0 0 0.006122 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615601 140615601 + RNA SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr5:140615601C>A ENST00000526308.1 + 0 1664 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 TCGCTGCTGCCGCCCCAGGAC 0.652000 48 127 1.61863e-15 2.73854e-15 0.003610 1 0 ADAD1 132612 broad.mit.edu 37 4 123314764 123314764 + Nonsense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:123314764G>T ENST00000296513.2 + 6 735 c.550G>T c.(550-552)Gaa>Taa p.E184* ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Nonsense_Mutation_p.E166*|ADAD1_ENST00000388724.2_Nonsense_Mutation_p.E184* NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 184 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTTCCCTGCAGAACCTGTTGT 0.328000 12 67 1.15088e-07 1.71128e-07 0.004007 1 0 SCRIB 23513 broad.mit.edu 37 8 144885846 144885846 + Missense_Mutation SNP G G A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr8:144885846G>A ENST00000356994.2 - 23 3391 c.3385C>T c.(3385-3387)Ccc>Tcc p.P1129S SCRIB_ENST00000320476.3_Missense_Mutation_p.P1129S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P1048S NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1129 Interaction with ARHGEF7.|PDZ 4. 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) TCGTCTGTGGGGTCGCGGGGG 0.706000 7 9 0 0 0.001984 0 0 NELL1 4745 broad.mit.edu 37 11 20959343 20959343 + Missense_Mutation SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:20959343T>A ENST00000298925.5 + 11 1246 c.1093T>A c.(1093-1095)Tat>Aat p.Y365N NELL1_ENST00000532434.1_Missense_Mutation_p.Y337N|NELL1_ENST00000325319.5_Missense_Mutation_p.Y280N|NELL1_ENST00000357134.5_Missense_Mutation_p.Y337N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 337 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AAAATGTATCTATGGAGGAAA 0.418000 34 43 0 0 0.006230 0 0 GSTO2 119391 broad.mit.edu 37 10 106039209 106039209 + Nonsense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:106039209G>T ENST00000338595.2 + 5 768 c.448G>T c.(448-450)Gaa>Taa p.E150* GSTO2_ENST00000450629.2_Intron|GSTO2_ENST00000369707.1_Nonsense_Mutation_p.E122*|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000429569.2_Intron|GSTO2_ENST00000401888.2_Nonsense_Mutation_p.E150* NM_183239.1 NP_899062.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 150 GST C-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) CCTGCGTCAGGAATTCAGCAA 0.532000 39 11 3.66105e-37 7.16194e-37 0.007835 1 0 CDH23 64072 broad.mit.edu 37 10 73551076 73551076 + Silent SNP A A G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:73551076A>G ENST00000224721.6 + 46 6257 c.6252A>G c.(6250-6252)ctA>ctG p.L2084L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2079 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCCATCTGCTAGAGAACTGCC 0.632000 7 25 0 0 0.001984 0 0 MTG1 92170 broad.mit.edu 37 10 135209735 135209735 + Silent SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:135209735C>T ENST00000468317.2 + 4 516 c.261C>T c.(259-261)ctC>ctT p.L87L MTG1_ENST00000317502.6_Silent_p.L82L|MTG1_ENST00000477902.2_Silent_p.L41L TGCTGGTCCTCAACAAGATGG 0.502000 101 105 0 0 0.003610 0 0 ZZEF1 23140 broad.mit.edu 37 17 3980197 3980197 + Missense_Mutation SNP A A C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:3980197A>C ENST00000381638.2 - 20 3200 c.3076T>G c.(3076-3078)Tgt>Ggt p.C1026G ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1026 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 ACTGAGTTACATAATCTTTCT 0.458000 34 22 0 0 0.005524 0 0 NBAS 51594 broad.mit.edu 37 2 15555714 15555714 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:15555714C>A ENST00000281513.5 - 25 2918 c.2893G>T c.(2893-2895)Gac>Tac p.D965Y NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 965 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AATTTTAAGTCCCCTTTAGCT 0.383000 45 71 9.52127e-25 1.7582e-24 0.003610 1 0 CHODL 140578 broad.mit.edu 37 21 19628834 19628834 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr21:19628834G>T ENST00000299295.2 + 2 479 c.88G>T c.(88-90)Gtg>Ttg p.V30L CHODL_ENST00000400127.1_5'UTR|CHODL_ENST00000400131.1_5'UTR|CHODL_ENST00000338326.3_5'UTR|CHODL_ENST00000400128.1_5'UTR|CHODL_ENST00000400135.1_5'UTR|CHODL_ENST00000543733.1_Missense_Mutation_p.V11L NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 30 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AGGCCAAAAGGTGTGTTTTGC 0.423000 10 18 0.000442599 0.000594565 0.006214 1 0 SNHG14 104472715 broad.mit.edu 37 15 25225172 25225172 + RNA SNP T T A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:25225172T>A ENST00000551631.2 + 0 165 NR_001293.1 GCAGCCTATTTGAAGAAAACC 0.373000 3 6 0 0 0.004672 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169908 90169908 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr4:90169908C>A ENST00000333209.3 - 2 1872 c.1354G>T c.(1354-1356)Gct>Tct p.A452S NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 452 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) AGCTTTTTAGCAGTTGACTCT 0.438000 16 38 2.23348e-06 3.22901e-06 0.004007 1 0 OR51V1 283111 broad.mit.edu 37 11 5221342 5221342 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr11:5221342C>G ENST00000321255.1 - 1 588 c.589G>C c.(589-591)Gcc>Ccc p.A197P NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGAACAGGCTAAGCGGAGA 0.413000 17 37 0 0 0.006122 0 0 MYBPC1 4604 broad.mit.edu 37 12 102008303 102008303 + Missense_Mutation SNP C C A rs149776048 byFrequency TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:102008303C>A ENST00000549145.1 + 2 155 c.55C>A c.(55-57)Ccg>Acg p.P19T MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000551300.1_5'UTR Q00872 MYPC1_HUMAN myosin binding protein C, slow type 19 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AGCCCCACCCCCGGAAGGTGA 0.507000 8 11 1.06961e-07 1.59804e-07 0.003080 1 0 ALAS2 212 broad.mit.edu 37 X 55047577 55047577 + Silent SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chrX:55047577A>T ENST00000330807.5 - 5 683 c.546T>A c.(544-546)tcT>tcA p.S182S ALAS2_ENST00000335854.4_Silent_p.S145S|ALAS2_ENST00000396198.3_Silent_p.S169S NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 182 S -> F (in Ref. 1; CAA39795). cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CAGATGCCTCAGAGAAATGTT 0.512000 20 78 0 0 0.007413 0 0 NEO1 4756 broad.mit.edu 37 15 73415063 73415063 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr15:73415063G>T ENST00000339362.5 + 4 1093 c.646G>T c.(646-648)Ggc>Tgc p.G216C NEO1_ENST00000560262.1_Missense_Mutation_p.G216C|NEO1_ENST00000558964.1_Missense_Mutation_p.G216C|NEO1_ENST00000261908.6_Missense_Mutation_p.G216C Q92859 NEO1_HUMAN neogenin 1 216 Ig-like C2-type 2. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TGAAGGAGATGGCGGGCTTTA 0.448000 46 19 7.05121e-23 1.27574e-22 0.002522 1 0 COL6A3 1293 broad.mit.edu 37 2 238268749 238268749 + Silent SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:238268749C>A ENST00000295550.4 - 17 6716 c.6264G>T c.(6262-6264)ccG>ccT p.P2088P COL6A3_ENST00000347401.3_Silent_p.P1887P|COL6A3_ENST00000472056.1_Silent_p.P1481P|COL6A3_ENST00000346358.4_Silent_p.P1888P|COL6A3_ENST00000409809.1_Silent_p.P1882P|COL6A3_ENST00000353578.4_Silent_p.P1882P NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2088 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCTCTGGCCCGGGCAGCCCT 0.607000 10 23 5.50884e-06 7.85543e-06 0.001368 1 0 RAB27B 5874 broad.mit.edu 37 18 52546622 52546622 + Missense_Mutation SNP A A T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr18:52546622A>T ENST00000262094.5 + 3 697 c.176A>T c.(175-177)aAt>aTt p.N59I RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 59 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CAAGGACCGAATGGATCTTCA 0.413000 19 15 0 0 0.002780 0 0 SMPD4 55627 broad.mit.edu 37 2 130911017 130911017 + Missense_Mutation SNP C C T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:130911017C>T ENST00000409031.1 - 18 3165 c.2017G>A c.(2017-2019)Gaa>Aaa p.E673K SMPD4_ENST00000453750.1_Missense_Mutation_p.E422K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E309K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E644K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E414K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E571K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E531K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E337K NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 634 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AGCTGCGCTTCGCTGAGCTGC 0.572000 6 48 0 0 0.003080 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186915862 186915862 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:186915862C>A ENST00000367466.3 + 11 1279 c.1127C>A c.(1126-1128)aCa>aAa p.T376K PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T316K NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 376 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTTATGGGAACAGTCGTTAAG 0.343000 10 26 3.86212e-05 5.36072e-05 0.008291 1 0 CSMD2 114784 broad.mit.edu 37 1 34015788 34015788 + Frame_Shift_Del DEL G G - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:34015788delG ENST00000373381.4 - 56 9082 c.8906delC c.(8905-8907)ctfs p.P2969fs NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2945 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAGCAGTGAGGGAGGGAGCC 0.577 19 58 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226019484 226019485 + Frame_Shift_Ins INS - - A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr1:226019484_226019485insA ENST00000366837.4 + 3 384_385 c.188_189insA c.(187-189)tcafs p.S63fs EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.S63fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 63 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CTCCAGGACTTACACCAGAGGA 0.495 19 55 --- --- --- --- ABCB11 8647 broad.mit.edu 37 2 169783822 169783840 + Frame_Shift_Del DEL TGAGCGGAGGAACTGGACA TGAGCGGAGGAACTGGACA - rs72549395 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr2:169783822_169783840delTGAGCGGAGGAACTGGACA ENST00000263817.6 - 26 3568_3586 c.3444_3462delTGTCCAGTTCCTCCGCTCA c.(3442-3462)aafs p.NVQFLRS1148fs NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1148 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTCCAATGTTTGAGCGGAGGAACTGGACATTTACTTTTT 0.402 13 75 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 8 1179 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 4 4 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 12 18 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27134297 27134298 + Frame_Shift_Del DEL GC GC - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:27134297_27134298delGC ENST00000343060.4 - 2 830_831 c.769_770delGC c.(769-771)cfs p.A257fs HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 257 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CACCCTGCGGGCGCGCGTCAGG 0.569 19 111 --- --- --- --- ZNF804B 219578 broad.mit.edu 37 7 88964059 88964059 + Frame_Shift_Del DEL T T - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:88964059delT ENST00000333190.4 + 4 2372 c.1763delT c.(1762-1764)cafs p.L588fs NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 588 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AACACATCTCTAAAGGATTGT 0.378 HNSCC(36;0.09) 7 19 --- --- --- --- TRBC2 28638 broad.mit.edu 37 7 142499581 142499581 + RNA DEL C C - rs1126990 TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr7:142499581delC ENST00000466254.1 + 0 387 AATGTCCTTACAAAGCAGCAT 0.453 97 344 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104600 102104601 + RNA INS - - TT TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr10:102104600_102104601insTT ENST00000429420.1 - 0 103 AAAAATCACAAttttttttttt 0.401 4 7 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 213 --- --- --- --- CHORDC2P 317775 broad.mit.edu 37 14 90203983 90203983 + RNA DEL C C - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr14:90203983delC ENST00000555070.1 - 0 170 cacccggccTCCCAGCATCCT 0.537 15 22 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5463043 5463043 + Frame_Shift_Del DEL G G - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:5463043delG ENST00000345221.3 - 4 1527 c.973delC c.(973-975)aafs p.Q325fs NLRP1_ENST00000577119.1_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.Q325fs NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 325 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CGAGGTTCTTGGGTATCCAGG 0.537 126 77 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48653396 48653397 + Frame_Shift_Ins INS - - C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr17:48653396_48653397insC ENST00000352832.5 + 8 2005_2006 c.1633_1634insC c.(1633-1635)cccfs p.P545fs CACNA1G_ENST00000515765.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000515411.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000515165.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000513689.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514717.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000510366.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000429973.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000359106.5_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514181.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000442258.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000416767.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000503485.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000502264.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000512389.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507336.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000510115.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507609.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507510.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000360761.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507896.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000505165.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000354983.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000513964.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514079.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000358244.5_Frame_Shift_Ins_p.P545fs 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 545 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) CCTCTCCGGGGCCCCCCCTGGT 0.708 2 4 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10600380 10600380 + Frame_Shift_Del DEL G G - TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7692e684-4af2-4892-80ad-1f417b6b38fa 1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80 g.chr19:10600380delG ENST00000171111.5 - 4 2022 c.1475delC c.(1474-1476)cafs p.P492fs KEAP1_ENST00000393623.2_Frame_Shift_Del_p.P492fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTTCCTCTCTGGGTAGTAACA 0.597 37 38 --- --- --- ---