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 MME 4311 broad.mit.edu 37 3 154832920 154832920 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:154832920G>C ENST00000460393.1 + 4 454 c.334G>C c.(334-336)Gat>Cat p.D112H MME_ENST00000462745.1_Missense_Mutation_p.D112H|MME_ENST00000477669.1_3'UTR|MME_ENST00000492661.1_Missense_Mutation_p.D112H|MME_ENST00000360490.2_Missense_Mutation_p.D112H|MME_ENST00000493237.1_Missense_Mutation_p.D112H NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 112 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CATTTTAAGAGATGAACTAGA 0.378000 9 69 0 0 0.006214 0 0 TMC5 79838 broad.mit.edu 37 16 19501762 19501762 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:19501762C>G ENST00000396229.2 + 18 3368 c.2619C>G c.(2617-2619)ctC>ctG p.L873L TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.L627L|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000541464.1_Silent_p.L821L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000564959.1_Silent_p.L556L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 873 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTCTGCCTCTCTTCATTCACT 0.483000 11 128 0 0 0.008291 0 0 RPL7 6129 broad.mit.edu 37 8 74204485 74204485 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:74204485G>A ENST00000396467.1 - 3 297 c.159C>T c.(157-159)atC>atT p.I53I RPL7_ENST00000352983.2_Silent_p.I93I|RPL7_ENST00000396466.1_Silent_p.I53I|RPL7_ENST00000396465.1_Silent_p.I53I NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 93 4 X 12 AA tandem repeats. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) CTCTGATTCTGATGACAAACG 0.413000 9 71 0 0 0.008291 0 0 DHX9 1660 broad.mit.edu 37 1 182823168 182823168 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:182823168C>T ENST00000367549.3 + 6 591 c.481C>T c.(481-483)Cta>Tta p.L161L NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 161 Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TCTACAGACTCTAGAATCAGA 0.323000 11 84 0 0 0.001368 0 0 ATP13A4 84239 broad.mit.edu 37 3 193201744 193201744 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:193201744G>A ENST00000342695.4 - 8 1111 c.789C>T c.(787-789)gtC>gtT p.V263V ATP13A4_ENST00000392443.3_Silent_p.V263V|ATP13A4_ENST00000295548.3_Silent_p.V263V NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 263 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CACATACAGAGACCGTAATGC 0.338000 6 108 0 0 0.001984 0 0 PROZ 8858 broad.mit.edu 37 13 113826116 113826116 + Silent SNP C C T rs74115810 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr13:113826116C>T ENST00000342783.4 + 9 973 c.966C>T c.(964-966)ctC>ctT p.L322L PROZ_ENST00000375547.2_Silent_p.L300L NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 300 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) GGGGCCTCCTCAGCGGCTGGG 0.662000 8 32 0 0 0.004482 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653829 46653829 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:46653829C>T ENST00000253255.5 - 1 5390 c.5391G>A c.(5389-5391)gtG>gtA p.V1797V NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1797 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTTTGCTCTCACTTGCCTCA 0.413000 5 135 0 0 0.001984 0 0 SNAPC4 6621 broad.mit.edu 37 9 139277757 139277757 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:139277757C>T ENST00000298532.2 - 15 2232 c.1864G>A c.(1864-1866)Gga>Aga p.G622R NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 622 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTCTCCTCTCCAGGAGCCGCG 0.736000 4 10 0 0 0.000248 0 0 IFNB1 3456 broad.mit.edu 37 9 21077774 21077774 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:21077774C>T ENST00000380232.2 - 1 169 c.95G>A c.(94-96)aGa>aAa p.R32K NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 32 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) ATTGCTGCTTCTTTGTAGGAA 0.458000 5 29 0 0 0.001984 0 0 ZNF221 7638 broad.mit.edu 37 19 44469137 44469137 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:44469137C>G ENST00000251269.5 + 4 445 c.117C>G c.(115-117)ttC>ttG p.F39L ZNF221_ENST00000587682.1_Missense_Mutation_p.F39L|ZNF221_ENST00000592350.1_Missense_Mutation_p.F39L NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) CTGTGGTCTTCACTGAGGAGG 0.483000 8 172 0 0 0.003080 0 0 WDR36 134430 broad.mit.edu 37 5 110428061 110428061 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:110428061C>G ENST00000506538.2 + 1 648 c.75C>G c.(73-75)ctC>ctG p.L25L WDR36_ENST00000513710.2_Silent_p.L25L|WDR36_ENST00000505303.1_5'UTR NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 25 L -> P (possible disease-susceptibility mutation). response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GTCTGCAGCTCTGGCAGAGGA 0.587000 7 86 0 0 0.001984 0 0 BHMT2 23743 broad.mit.edu 37 5 78379134 78379134 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:78379134C>G ENST00000255192.3 + 6 784 c.718C>G c.(718-720)Ctg>Gtg p.L240V BHMT2_ENST00000521567.1_Missense_Mutation_p.L176V|DMGDH_ENST00000520388.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 240 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GGTGCAGCCTCTGGGGTTCCA 0.557000 10 94 0 0 0.008291 0 0 PTCHD1 139411 broad.mit.edu 37 X 23353199 23353199 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:23353199C>T ENST00000379361.4 + 1 1067 c.207C>T c.(205-207)ctC>ctT p.L69L NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 69 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 AGCGCAACCTCGTTAACAGCC 0.662000 10 39 0 0 0.006214 0 0 TRIM24 8805 broad.mit.edu 37 7 138264004 138264004 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:138264004C>G ENST00000343526.4 + 15 2527 c.2312C>G c.(2311-2313)tCt>tGt p.S771C TRIM24_ENST00000415680.2_Missense_Mutation_p.S737C O15164 TIF1A_HUMAN tripartite motif containing 24 771 Nuclear receptor binding site (NRBS). cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AGTCAGAGCTCTACTTCTGAG 0.398000 10 112 0 0 0.000978 0 0 PRDX5 25824 broad.mit.edu 37 11 64088497 64088497 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:64088497G>C ENST00000265462.4 + 5 624 c.496G>C c.(496-498)Gat>Cat p.D166H PRDX5_ENST00000347941.4_Missense_Mutation_p.D77H|PRDX5_ENST00000352435.4_Missense_Mutation_p.D122H NM_012094.4 NP_036226.1 P30044 PRDX5_HUMAN peroxiredoxin 5 166 Thioredoxin. cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) CTTATTACTAGATGATTCGCT 0.512000 7 135 0 0 0.001984 0 0 TCHH 7062 broad.mit.edu 37 1 152080046 152080046 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:152080046C>T ENST00000368804.1 - 2 5646 c.5647G>A c.(5647-5649)Gaa>Aaa p.E1883K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1883 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGATGTGTTCTTCCCGTAAT 0.572000 10 89 0 0 0.008291 0 0 XIRP2 129446 broad.mit.edu 37 2 168100037 168100037 + Missense_Mutation SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:168100037A>G ENST00000409195.1 + 9 2224 c.2135A>G c.(2134-2136)gAg>gGg p.E712G XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E712G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E490G|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 537 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCAGTGGATGAGGTTCATTTA 0.363000 5 29 0 0 0.001984 0 0 TTLL4 9654 broad.mit.edu 37 2 219612093 219612093 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:219612093G>C ENST00000392102.1 + 10 2587 c.2247G>C c.(2245-2247)caG>caC p.Q749H TTLL4_ENST00000258398.4_Missense_Mutation_p.Q749H|TTLL4_ENST00000442769.1_Missense_Mutation_p.Q685H|TTLL4_ENST00000457313.1_Missense_Mutation_p.Q584H NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 749 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCCTGGTACAGAGGTGAGCCT 0.552000 4 39 0 0 0.000602 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060319 144060319 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:144060319G>A ENST00000056217.5 + 2 731 c.557G>A c.(556-558)tGc>tAc p.C186Y NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 186 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TATTCTCCCTGCGAAGAGCAT 0.502000 9 98 0 0 0.001368 0 0 COL19A1 1310 broad.mit.edu 37 6 70871820 70871820 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:70871820G>C ENST00000322773.4 + 35 2423 c.2321G>C c.(2320-2322)gGt>gCt p.G774A COL19A1_ENST00000393344.1_Missense_Mutation_p.G396A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 774 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGCATTCCAGGTGCTCCAGGC 0.393000 7 48 0 0 0.003080 0 0 ZNF334 55713 broad.mit.edu 37 20 45130568 45130568 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:45130568G>C ENST00000457685.2 - 6 2619 c.1296C>G c.(1294-1296)ttC>ttG p.F432L ZNF334_ENST00000593880.1_Missense_Mutation_p.F493L|ZNF334_ENST00000347606.4_Missense_Mutation_p.F470L Q9HCZ1 ZN334_HUMAN zinc finger protein 334 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ACTTATGGCAGAAAAATTTCC 0.353000 5 92 0 0 0.001168 0 0 PDE1C 5137 broad.mit.edu 37 7 31793087 31793087 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:31793087C>T ENST00000396193.1 - 19 2814 c.2221G>A c.(2221-2223)Gat>Aat p.D741N PDE1C_ENST00000396191.1_Missense_Mutation_p.D681N|PDE1C_ENST00000321453.7_Missense_Mutation_p.D681N NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 681 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GGATGCTCATCAGTTTTCTTT 0.453000 19 146 0 0 0.008871 0 0 POLG2 11232 broad.mit.edu 37 17 62492601 62492601 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:62492601C>T ENST00000539111.2 - 1 553 c.486G>A c.(484-486)ctG>ctA p.L162L NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 162 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding p.L162L(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GTTCCTTACTCAGCTCTTTGT 0.473000 7 85 0 0 0.001984 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917614 144917614 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:144917614G>C ENST00000529945.1 - 8 2418 c.1979C>G c.(1978-1980)tCt>tGt p.S660C PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S660C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S497C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S634C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S284C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S634C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S563C Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 497 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCTAGAGCAGAGAATTTTTC 0.438000 T PDGFRB MPD 9 155 0 0 0.004482 0 0 PFAS 5198 broad.mit.edu 37 17 8172290 8172290 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:8172290C>G ENST00000314666.6 + 28 3858 c.3725C>G c.(3724-3726)tCt>tGt p.S1242C PFAS_ENST00000545834.1_Missense_Mutation_p.S818C NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1242 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCATTTTCTTCTCCGGAACTC 0.597000 4 102 0 0 0.000248 0 0 ATP1A4 480 broad.mit.edu 37 1 160147400 160147400 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:160147400C>G ENST00000368081.4 + 18 3153 c.2682C>G c.(2680-2682)ctC>ctG p.L894L ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.L30L NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 894 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCATCCGCCTCCACTGGGAAG 0.498000 4 83 0 0 0.000248 0 0 ZNF646 9726 broad.mit.edu 37 16 31090472 31090472 + Nonsense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:31090472C>T ENST00000394979.2 + 1 3250 c.2827C>T c.(2827-2829)Cag>Tag p.Q943* ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q943* O15015 ZN646_HUMAN zinc finger protein 646 943 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCTGCTGAATCAGCTGCAGCG 0.632000 8 47 0 0 0.003080 0 0 VPS45 11311 broad.mit.edu 37 1 150048382 150048382 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:150048382G>A ENST00000369130.3 + 4 907 c.361G>A c.(361-363)Gag>Aag p.E121K VPS45_ENST00000535106.1_Missense_Mutation_p.E121K|VPS45_ENST00000369128.5_Missense_Mutation_p.E85K NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 121 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction p.E121Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 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) AGTTGTGGCTGAGGTTCAGGT 0.388000 4 74 0 0 0.000602 0 0 LPPR5 163404 broad.mit.edu 37 1 99470156 99470156 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:99470156C>T ENST00000370188.3 - 1 432 c.72G>A c.(70-72)gtG>gtA p.V24V LPPR5_ENST00000263177.4_Silent_p.V24V|RP5-896L10.1_ENST00000425113.1_RNA NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 24 integral to membrane hydrolase activity ACGCCAGCATCACCGTCCCTG 0.652000 11 49 0 0 0.000978 0 0 LCLAT1 253558 broad.mit.edu 37 2 30748605 30748605 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:30748605G>T ENST00000309052.4 + 3 472 c.263G>T c.(262-264)tGg>tTg p.W88L LCLAT1_ENST00000540623.1_Missense_Mutation_p.W50L|LCLAT1_ENST00000359433.1_Missense_Mutation_p.W88L|LCLAT1_ENST00000319406.4_Missense_Mutation_p.W88L|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_Missense_Mutation_p.W50L NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 88 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 GTGGCAACATGGCTCACCCTA 0.458000 13 61 5.50884e-06 7.41137e-06 0.001368 1 0 SLC26A3 1811 broad.mit.edu 37 7 107427285 107427285 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:107427285C>T ENST00000340010.5 - 8 1142 c.958G>A c.(958-960)Gac>Aac p.D320N SLC26A3_ENST00000422236.2_Missense_Mutation_p.D285N NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 320 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GGATTCATGTCCCCAACCACA 0.468000 10 85 0 0 0.001855 0 0 FAM160A2 84067 broad.mit.edu 37 11 6245630 6245630 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:6245630G>C ENST00000265978.4 - 2 475 c.117C>G c.(115-117)gtC>gtG p.V39V FAM160A2_ENST00000524416.1_Silent_p.V39V|FAM160A2_ENST00000449352.2_Silent_p.V39V NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 39 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GATTCTTGAAGACCATGAGGC 0.567000 6 67 0 0 0.001168 0 0 RTN4 57142 broad.mit.edu 37 2 55254100 55254100 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:55254100G>C ENST00000337526.6 - 3 1378 c.1135C>G c.(1135-1137)Cct>Gct p.P379A RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P173A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.P173A|RTN4_ENST00000357376.3_Missense_Mutation_p.P173A|RTN4_ENST00000354474.6_Missense_Mutation_p.P147A|RTN4_ENST00000404909.1_Missense_Mutation_p.P173A NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 379 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TCCCTCATAGGAGCTTCCACT 0.388000 15 93 0 0 0.002450 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622640 65622640 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:65622640C>T ENST00000327987.4 - 11 2100 c.1849G>A c.(1849-1851)Gag>Aag p.E617K NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 617 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCTGTCCTCTCAGATGCTCCC 0.572000 15 105 0 0 0.004007 0 0 OR4A15 81328 broad.mit.edu 37 11 55135643 55135643 + Nonsense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:55135643C>G ENST00000314706.3 + 1 284 c.284C>G c.(283-285)tCa>tGa p.S95* NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GCTTCTTTATCATTCATAGAT 0.433000 3 87 0 0 0.000248 0 0 LLGL1 3996 broad.mit.edu 37 17 18138158 18138158 + Missense_Mutation SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:18138158A>G ENST00000316843.4 + 9 1007 c.911A>G c.(910-912)cAc>cGc p.H304R NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 304 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) CATAGGGGCCACTTTATCATC 0.587000 6 31 0 0 0.001168 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106111667 106111667 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:106111667C>A ENST00000357242.5 + 18 2947 c.2773C>A c.(2773-2775)Ctt>Att p.L925I TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L919I NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 925 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGGAGATGAACTTTCCAAGGA 0.343000 5 44 1.06961e-07 1.45401e-07 0.003080 1 0 NUMA1 4926 broad.mit.edu 37 11 71733399 71733399 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:71733399C>G ENST00000393695.3 - 7 689 c.358G>C c.(358-360)Gaa>Caa p.E120Q NUMA1_ENST00000351960.6_Missense_Mutation_p.E120Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.E120Q NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 120 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 ATTTTATATTCAAACTGTTCC 0.488000 T RARA APL 8 141 0 0 0.004482 0 0 NDUFA5 4698 broad.mit.edu 37 7 123190613 123190613 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:123190613G>C ENST00000471770.1 - 3 228 c.94C>G c.(94-96)Ctt>Gtt p.L32V NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.L32V Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 32 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|urinary_tract(1) 2 NADH(DB00157) AGAACATCAAGAATCTTTGTG 0.333000 4 78 0 0 0.000602 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182683451 182683451 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:182683451G>C ENST00000292782.4 - 2 247 c.94C>G c.(94-96)Caa>Gaa p.Q32E DCUN1D1_ENST00000469954.1_Missense_Mutation_p.Q17E NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 32 UBA-like. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAGTCATTTTGAGAAAGACAA 0.338000 6 75 0 0 0.001168 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905987 144905987 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:144905987G>C ENST00000370490.1 + 1 6299 c.2044G>C c.(2044-2046)Ggc>Cgc p.G682R SLITRK2_ENST00000447897.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G682R Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 682 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TAAAACAGACGGCCATGTCTA 0.488000 7 67 0 0 0.003080 0 0 EPHB6 2051 broad.mit.edu 37 7 142568550 142568550 + Splice_Site SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:142568550G>A ENST00000392957.2 + 20 3746 c.2957_splice c.e20-1 p.D987_splice EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Splice_Site_p.D710_splice|EPHB6_ENST00000442129.1_Splice_Site_p.D987_splice NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 987 SAM. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCCCACCAGAGACCTGCCTGC 0.642000 4 49 0 0 0.000248 0 0 ARSE 415 broad.mit.edu 37 X 2856180 2856180 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:2856180G>A ENST00000545496.1 - 10 1611 c.1320C>T c.(1318-1320)ttC>ttT p.F440F ARSE_ENST00000381134.3_Silent_p.F415F|ARSE_ENST00000540563.1_Silent_p.F370F P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 415 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCACGGTGGGGAACACGTCCA 0.637000 7 141 0 0 0.006214 0 0 ARSE 415 broad.mit.edu 37 X 2856194 2856194 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:2856194G>C ENST00000545496.1 - 10 1597 c.1306C>G c.(1306-1308)Ctg>Gtg p.L436V ARSE_ENST00000381134.3_Missense_Mutation_p.L411V|ARSE_ENST00000540563.1_Missense_Mutation_p.L366V P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 411 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGTCCATCAGACTCGTGGGC 0.652000 7 132 0 0 0.004482 0 0 RGS3 5998 broad.mit.edu 37 9 116246510 116246510 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:116246510C>T ENST00000374140.2 + 7 827 c.618C>T c.(616-618)ttC>ttT p.F206F RGS3_ENST00000317613.6_Silent_p.F94F|RGS3_ENST00000350696.5_Silent_p.F206F NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 206 C2. F -> S (in Ref. 3; BAC11328). inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 AGCACTTCTTCTTGTAAGAGT 0.473000 6 55 0 0 0.001168 0 0 OR51L1 119682 broad.mit.edu 37 11 5020489 5020489 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:5020489G>C ENST00000321543.1 + 1 277 c.277G>C c.(277-279)Gag>Cag p.E93Q NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGCTCCAGAGATCCAGGC 0.488000 4 122 0 0 0.000248 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392759 89392759 + RNA SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:89392759T>C ENST00000532352.1 + 0 582 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ACTCAGACCCTGCTGACTACT 0.468000 7 34 0 0 0.003080 0 0 PTPN9 5780 broad.mit.edu 37 15 75762273 75762273 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:75762273G>A ENST00000306726.2 - 12 1939 c.1427C>T c.(1426-1428)tCa>tTa p.S476L NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 476 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding p.S476L(1) central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAAGCTGCTGAGGAAGGGAC 0.522000 7 52 0 0 0.003080 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102482742 102482742 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:102482742G>A ENST00000360184.4 + 37 7694 c.7530G>A c.(7528-7530)atG>atA p.M2510I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2510 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GGCTAAAAATGAGAGCAGAGC 0.438000 5 51 0 0 0.000602 0 0 OR5M8 219484 broad.mit.edu 37 11 56258211 56258211 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:56258211G>C ENST00000327216.2 - 1 660 c.636C>G c.(634-636)atC>atG p.I212M NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AAATACATATGATGAAGAGAG 0.433000 3 50 0 0 0.004672 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31124408 31124408 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:31124408C>T ENST00000304166.4 + 8 784 c.495C>T c.(493-495)ctC>ctT p.L165L ADCYAP1R1_ENST00000396211.2_Silent_p.L165L|ADCYAP1R1_ENST00000409489.1_Silent_p.L165L|ADCYAP1R1_ENST00000409363.1_Silent_p.L144L NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 165 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GCACATCCCTCGTCACCCTCA 0.557000 6 78 0 0 0.001168 0 0 MARS2 92935 broad.mit.edu 37 2 198571795 198571795 + Nonsense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:198571795C>T ENST00000282276.6 + 1 1709 c.1666C>T c.(1666-1668)Cga>Tga p.R556* AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 556 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTTCTTGCCTCGATTCTATGG 0.537000 5 135 0 0 0.003080 0 0 NPAP1 23742 broad.mit.edu 37 15 24923064 24923064 + Missense_Mutation SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:24923064A>T ENST00000329468.2 + 1 2524 c.2050A>T c.(2050-2052)Agt>Tgt p.S684C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTAGTGAACAGTGCCTCTAC 0.527000 24 104 0 0 0.002780 0 0 NFRKB 4798 broad.mit.edu 37 11 129744182 129744182 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:129744182G>C ENST00000446488.3 - 20 2208 c.2105C>G c.(2104-2106)cCt>cGt p.P702R NFRKB_ENST00000304521.5_Missense_Mutation_p.P702R|NFRKB_ENST00000524794.1_Missense_Mutation_p.P727R|NFRKB_ENST00000524746.1_Missense_Mutation_p.P702R NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 702 Ser-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CTGCTCAGAAGGGCCACTGCT 0.547000 4 69 0 0 0.000248 0 0 NSRP1 84081 broad.mit.edu 37 17 28511724 28511724 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:28511724G>A ENST00000247026.5 + 7 772 c.709G>A c.(709-711)Gat>Aat p.D237N NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 237 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 TCTTCAAACTGATGTGAAAGT 0.393000 4 35 0 0 0.000248 0 0 OCEL1 79629 broad.mit.edu 37 19 17337105 17337105 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:17337105G>A ENST00000215061.4 + 1 93 c.49G>A c.(49-51)Gag>Aag p.E17K OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.E17K NM_024578.1 NP_078854.1 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 17 central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 TCCAGGCTCGGAGCTCCAGAC 0.706000 4 31 0 0 0.000248 0 0 RPL19 6143 broad.mit.edu 37 17 37357505 37357505 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:37357505C>T ENST00000579260.1 + 2 442 c.39C>T c.(37-39)ctC>ctT p.L13L RPL19_ENST00000225430.4_Silent_p.L15L|RPL19_ENST00000579374.1_Silent_p.L12L|RPL19_ENST00000582193.1_Silent_p.L13L P84098 RL19_HUMAN ribosomal protein L19 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 CTAGTGTCCTCCGCTGTGGCA 0.502000 7 79 0 0 0.003080 0 0 VSTM1 284415 broad.mit.edu 37 19 54561689 54561689 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:54561689C>T ENST00000338372.2 - 3 401 c.226G>A c.(226-228)Gaa>Aaa p.E76K VSTM1_ENST00000376626.1_Missense_Mutation_p.E76K|VSTM1_ENST00000425006.2_Missense_Mutation_p.E76K|VSTM1_ENST00000366170.2_Intron NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 76 Ig-like V-type. integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GCTTCGTTTTCTGCCGAGCTC 0.517000 4 92 0 0 0.001168 0 0 HBP1 26959 broad.mit.edu 37 7 106840728 106840728 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:106840728G>C ENST00000222574.4 + 10 1695 c.1509G>C c.(1507-1509)aaG>aaC p.K503N HBP1_ENST00000468410.1_Missense_Mutation_p.K503N|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.K503N NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 503 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 ACTGTTGGAAGAGGAAAAGAA 0.378000 5 25 0 0 0.000602 0 0 SPTA1 6708 broad.mit.edu 37 1 158590152 158590152 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:158590152C>T ENST00000368148.3 - 44 6405 c.6225G>A c.(6223-6225)ctG>ctA p.L2075L SPTA1_ENST00000368147.3_Silent_p.L2072L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2075 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAATTTCATTCAGGGAGACAC 0.483000 9 45 0 0 0.004482 0 0 NF2 4771 broad.mit.edu 37 22 30061031 30061031 + Nonsense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:30061031C>G ENST00000338641.4 + 9 1304 c.863C>G c.(862-864)tCa>tGa p.S288* NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205* NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 288 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.F271_L295del(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 TTTAACTCCTCAAAGCTTCGT 0.353000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 3 15 0 0 0.000248 0 0 GAD1 2571 broad.mit.edu 37 2 171700629 171700629 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:171700629G>A ENST00000358196.3 + 7 1263 c.713G>A c.(712-714)gGa>gAa p.G238E GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 238 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GAGATAGTTGGATGGTCAAGT 0.378000 4 30 0 0 0.001168 0 0 RAP2B 5912 broad.mit.edu 37 3 152880634 152880634 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:152880634C>T ENST00000323534.2 + 1 606 c.152C>T c.(151-153)tCg>tTg p.S51L NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 51 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TCGTCGCCGTCGGTGCTGGAG 0.602000 10 74 0 0 0.001855 0 0 CHAT 1103 broad.mit.edu 37 10 50859999 50859999 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:50859999G>A ENST00000395562.2 + 12 1804 c.1335G>A c.(1333-1335)caG>caA p.Q445Q CHAT_ENST00000351556.3_Silent_p.Q409Q|CHAT_ENST00000455728.2_Silent_p.Q409Q|CHAT_ENST00000337653.2_Silent_p.Q527Q|CHAT_ENST00000395559.2_Silent_p.Q409Q|CHAT_ENST00000339797.1_Silent_p.Q409Q NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 527 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TTAAGAAGCAGAAATGCAGCC 0.443000 4 32 0 0 0.000248 0 0 DOCK11 139818 broad.mit.edu 37 X 117796680 117796680 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:117796680G>C ENST00000276204.6 + 45 5075 c.5001G>C c.(4999-5001)aaG>aaC p.K1667N DOCK11_ENST00000276202.7_Missense_Mutation_p.K1667N Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1667 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CAGCGTTCAAGAAAATTACTC 0.373000 5 32 0 0 0.000602 0 0 DNM1 1759 broad.mit.edu 37 9 130984587 130984587 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:130984587G>A ENST00000341179.7 + 7 1053 c.961G>A c.(961-963)Gac>Aac p.D321N DNM1_ENST00000486160.1_Missense_Mutation_p.D321N|DNM1_ENST00000393594.3_Missense_Mutation_p.D321N|DNM1_ENST00000372923.3_Missense_Mutation_p.D321N|DNM1_ENST00000475805.1_Missense_Mutation_p.D321N NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 321 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 CCGCCCTGATGACCCAGCTCG 0.627000 8 19 0 0 0.003080 0 0 POMZP3 22932 broad.mit.edu 37 7 76254842 76254842 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:76254842C>G ENST00000310842.4 - 3 908 c.224G>C c.(223-225)aGa>aCa p.R75T UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.R75T|UPK3B_ENST00000419923.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 75 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) CTGTTACCTTCTTTTATTTTC 0.463000 7 154 0 0 0.002450 0 0 GPR128 84873 broad.mit.edu 37 3 100352183 100352183 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:100352183G>A ENST00000273352.3 + 4 677 c.409G>A c.(409-411)Gga>Aga p.G137R NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 137 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 AGTGACAATAGGAAATTGCAA 0.393000 5 41 0 0 0.000602 0 0 LRRK1 79705 broad.mit.edu 37 15 101592125 101592125 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:101592125G>A ENST00000284395.5 + 25 4040 c.3640G>A c.(3640-3642)Gag>Aag p.E1214K LRRK1_ENST00000388948.3_Missense_Mutation_p.E1217K|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1217 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCGCTGCAGGAGCTGGTCCC 0.632000 4 24 0 0 0.001168 0 0 ZMIZ1 57178 broad.mit.edu 37 10 80961439 80961439 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:80961439G>C ENST00000334512.5 + 5 622 c.50G>C c.(49-51)tGc>tCc p.C17S NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 17 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CGACTGCAGTGCATCAAGCAG 0.597000 9 115 0 0 0.006214 0 0 EPHB6 2051 broad.mit.edu 37 7 142566852 142566852 + Silent SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:142566852G>T ENST00000392957.2 + 16 3196 c.2409G>T c.(2407-2409)gtG>gtT p.V803V EPHB6_ENST00000411471.2_Silent_p.V526V|EPHB6_ENST00000442129.1_Silent_p.V803V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 803 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCGTGCTGGTGAATAGCCACT 0.637000 6 65 2.7689e-08 3.81362e-08 0.001984 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22873224 22873224 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:22873224C>G ENST00000283645.4 + 23 3181 c.3051C>G c.(3049-3051)ctC>ctG p.L1017L NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 1017 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CGTTGTCACTCATGGCTGGCA 0.358000 4 56 0 0 0.001168 0 0 POMZP3 22932 broad.mit.edu 37 7 76254922 76254922 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:76254922C>T ENST00000310842.4 - 3 828 c.144G>A c.(142-144)ctG>ctA p.L48L UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Silent_p.L48L|UPK3B_ENST00000419923.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 48 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) TGAGGGCACTCAGTACAGTCT 0.443000 10 120 0 0 0.000978 0 0 WBSCR22 114049 broad.mit.edu 37 7 73107997 73107997 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:73107997G>C ENST00000265758.2 + 9 698 c.640G>C c.(640-642)Gag>Cag p.E214Q WBSCR22_ENST00000423497.1_Missense_Mutation_p.E214Q|WBSCR22_ENST00000423166.2_3'UTR NM_017528.4 NP_059998.2 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 214 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) CTTTATACCAGAGGTGAGGGA 0.552000 7 147 0 0 0.003080 0 0 TRPV4 59341 broad.mit.edu 37 12 110232235 110232235 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:110232235G>A ENST00000418703.2 - 7 1484 c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C TRPV4_ENST00000392719.2_Missense_Mutation_p.R417C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R430C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R357C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R417C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R404C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R404C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R464C NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 464 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCGAACTTGCGCCACTTGTCC 0.607000 15 87 0 0 0.003163 0 0 UTRN 7402 broad.mit.edu 37 6 144794970 144794970 + Splice_Site SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:144794970G>A ENST00000367545.3 + 23 3180 c.e23+1 NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCAGTGCTCTGTGAGTTCTGC 0.408000 6 41 0 0 0.001168 0 0 EEF2K 29904 broad.mit.edu 37 16 22269882 22269882 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:22269882C>G ENST00000263026.5 + 10 1571 c.1097C>G c.(1096-1098)tCt>tGt p.S366C NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 366 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) AGGACCCTCTCTGGGAGCCGG 0.547000 4 82 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179425394 179425394 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:179425394C>T ENST00000589042.1 - 326 85689 c.85465G>A c.(85465-85467)Gaa>Aaa p.E28489K TTN_ENST00000359218.5_Missense_Mutation_p.E19549K|TTN_ENST00000342175.6_Missense_Mutation_p.E19616K|TTN_ENST00000342992.6_Missense_Mutation_p.E25921K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19424K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26848K|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26848 Ig-like 132. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E19616Q(1)|p.E25919Q(1)|p.E25921Q(1)|p.E19549Q(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) TCACGTTTTTCTACGATGTAA 0.423000 3 31 0 0 0.004672 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596337 41596337 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:41596337G>A ENST00000330436.3 + 4 522 c.522G>A c.(520-522)ctG>ctA p.L174L NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 174 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CCTTCTTCCTGAGCCGCACAG 0.542000 5 93 0 0 0.000602 0 0 RFWD3 55159 broad.mit.edu 37 16 74695173 74695173 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:74695173C>T ENST00000361070.4 - 2 272 c.175G>A c.(175-177)Gag>Aag p.E59K RFWD3_ENST00000571750.1_Missense_Mutation_p.E59K NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 59 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTGATCACCTCAGCAGGAGCT 0.617000 13 113 0 0 0.001368 0 0 YARS 8565 broad.mit.edu 37 1 33245125 33245125 + Splice_Site SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:33245125C>G ENST00000373477.4 - 12 2243 c.e12-1 YARS_ENST00000469100.1_Splice_Site NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TATCCCTTCTCTGGGAAGACA 0.562000 4 50 0 0 0.000602 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519656 137519656 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:137519656G>C ENST00000367739.4 - 7 1103 c.982C>G c.(982-984)Cca>Gca p.P328A IFNGR1_ENST00000543628.1_Missense_Mutation_p.P300A NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 328 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) ACTGTTGCTGGAGACAACGGC 0.408000 5 38 0 0 0.000602 0 0 KMT2C 58508 broad.mit.edu 37 7 151945526 151945526 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:151945526C>T ENST00000355193.2 - 14 2211 c.1993G>A c.(1993-1995)Gaa>Aaa p.E665K KMT2C_ENST00000262189.6_Missense_Mutation_p.E665K lysine (K)-specific methyltransferase 2C TGCAGTTGTTCTTGCTGCACA 0.403000 8 55 0 0 0.003080 0 0 ADRB2 154 broad.mit.edu 37 5 148206482 148206482 + Nonsense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:148206482G>T ENST00000305988.4 + 1 327 c.88G>T c.(88-90)Gag>Tag p.E30* NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 30 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) GGAAAGGGACGAGGTGTGGGT 0.622000 10 94 0.000673444 0.000878844 0.008291 1 0 CCDC78 124093 broad.mit.edu 37 16 774116 774116 + Missense_Mutation SNP C C T rs142170929 byFrequency TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:774116C>T ENST00000293889.6 - 10 1148 c.1043G>A c.(1042-1044)cGg>cAg p.R348Q NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 348 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) CTGGTCCTCCCGATGGCTGAA 0.642000 6 46 0 0 0.001984 0 0 IMPG1 3617 broad.mit.edu 37 6 76734932 76734932 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:76734932C>T ENST00000369963.3 - 4 496 c.307G>A c.(307-309)Gaa>Aaa p.E103K IMPG1_ENST00000369950.3_Missense_Mutation_p.E181K Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 181 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ACAATGGTTTCACCAGGCTCT 0.343000 6 61 0 0 0.003080 0 0 CEP250 11190 broad.mit.edu 37 20 34059877 34059877 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:34059877G>C ENST00000397527.1 + 11 1671 c.951G>C c.(949-951)gaG>gaC p.E317D CEP250_ENST00000342580.4_Missense_Mutation_p.E317D NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 317 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGTTCAGGAGACAAATCACA 0.413000 5 104 0 0 0.000602 0 0 MDN1 23195 broad.mit.edu 37 6 90390458 90390458 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:90390458C>G ENST00000369393.3 - 74 12230 c.12115G>C c.(12115-12117)Gag>Cag p.E4039Q MDN1_ENST00000428876.1_Missense_Mutation_p.E4039Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4039 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) TGACACCACTCTGGAATTGTG 0.522000 3 25 0 0 0.000248 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 58 0 0 0.004672 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 46 0 0 0.000248 0 0 RETSAT 54884 broad.mit.edu 37 2 85577204 85577204 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:85577204G>A ENST00000295802.4 - 4 870 c.758C>T c.(757-759)tCt>tTt p.S253F RETSAT_ENST00000263854.6_Missense_Mutation_p.S253F|RETSAT_ENST00000457495.2_Missense_Mutation_p.S192F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 253 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CTGGAGCTCAGAGGAGGCCCC 0.617000 3 42 0 0 0.004672 0 0 CYB5D2 124936 broad.mit.edu 37 17 4047098 4047098 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:4047098G>A ENST00000301391.3 + 1 549 c.49G>A c.(49-51)Gca>Aca p.A17T CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron NM_144611.3 NP_653212.1 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 17 nervous system development extracellular region heme binding breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 GGCTGTAGCCGCAGCAGCGGT 0.642000 8 71 0 0 0.003080 0 0 DENND4A 10260 broad.mit.edu 37 15 65968944 65968944 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:65968944G>C ENST00000443035.3 - 24 4420 c.4205C>G c.(4204-4206)tCt>tGt p.S1402C DENND4A_ENST00000431932.2_Missense_Mutation_p.S1359C NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TCCCACTGAAGAAAGACTGGT 0.383000 3 17 0 0 0.004672 0 0 NT5DC1 221294 broad.mit.edu 37 6 116559441 116559441 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:116559441G>T ENST00000319550.4 + 10 1095 c.1013G>T c.(1012-1014)aGa>aTa p.R338I NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 338 hydrolase activity|metal ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) GAAGAACTCAGAGGGGATGAA 0.468000 5 60 0.000602214 0.000787859 0.000602 1 0 KLHL11 55175 broad.mit.edu 37 17 40021372 40021372 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:40021372C>T ENST00000319121.3 - 1 312 c.252G>A c.(250-252)caG>caA p.Q84Q NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 84 extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) GCTGCTCGTTCTGCCGCCAGG 0.692000 3 8 0 0 0.004672 0 0 NUP205 23165 broad.mit.edu 37 7 135277877 135277877 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:135277877C>T ENST00000285968.6 + 12 1793 c.1767C>T c.(1765-1767)atC>atT p.I589I NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 589 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CCCGTGGCATCACCCAGAAGG 0.438000 11 83 0 0 0.001368 0 0 MECP2 4204 broad.mit.edu 37 X 153296254 153296254 + Missense_Mutation SNP G G A rs62643610 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:153296254G>A ENST00000303391.6 - 4 1274 c.1025C>T c.(1024-1026)cCt>cTt p.P342L MECP2_ENST00000453960.2_Missense_Mutation_p.P354L NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 342 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTCCGCCCAGGGCTCTTACA 0.627000 9 48 0 0 0.004482 0 0 TMEM119 338773 broad.mit.edu 37 12 108985885 108985885 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:108985885C>A ENST00000392806.3 - 2 443 c.275G>T c.(274-276)cGc>cTc p.R92L NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 92 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CACGTACTGGCGGAAGAAGTC 0.632000 4 55 0.000602214 0.000787859 0.000602 1 0 SEMA5A 9037 broad.mit.edu 37 5 9337859 9337859 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:9337859C>G ENST00000382496.5 - 4 855 c.190G>C c.(190-192)Gac>Cac p.D64H NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 64 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGTCCTGGGTCAAATGTTAAC 0.363000 3 45 0 0 0.004672 0 0 UBN2 254048 broad.mit.edu 37 7 138968377 138968377 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:138968377C>G ENST00000288561.8 + 15 2726 c.2477C>G c.(2476-2478)tCt>tGt p.S826C UBN2_ENST00000473989.2_Missense_Mutation_p.S909C NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 909 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GCTGCCTCTTCTCATGCTCTG 0.488000 12 60 0 0 0.001855 0 0 HUWE1 10075 broad.mit.edu 37 X 53585705 53585705 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:53585705C>G ENST00000342160.3 - 58 8528 c.8071G>C c.(8071-8073)Gag>Cag p.E2691Q HUWE1_ENST00000262854.6_Missense_Mutation_p.E2691Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2691 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTGCGCTTCTCTCGCCTTTCT 0.453000 4 118 0 0 0.000248 0 0 MEIS2 4212 broad.mit.edu 37 15 37329042 37329042 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:37329042C>T ENST00000338564.5 - 9 1319 c.873G>A c.(871-873)atG>atA p.M291I MEIS2_ENST00000340545.5_Missense_Mutation_p.M278I|MEIS2_ENST00000444725.1_Missense_Mutation_p.M291I|MEIS2_ENST00000382766.2_Missense_Mutation_p.M291I|MEIS2_ENST00000557796.2_Missense_Mutation_p.M278I|MEIS2_ENST00000561208.1_Missense_Mutation_p.M291I|MEIS2_ENST00000397620.2_Missense_Mutation_p.M203I|MEIS2_ENST00000559085.1_Missense_Mutation_p.M278I|MEIS2_ENST00000219869.9_Missense_Mutation_p.M145I|MEIS2_ENST00000424352.2_Missense_Mutation_p.M291I|MEIS2_ENST00000559561.1_Missense_Mutation_p.M291I|MEIS2_ENST00000397624.3_Missense_Mutation_p.M203I NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 291 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GCCATGCTCTCATGATATTTG 0.398000 15 63 0 0 0.004007 0 0 USH2A 7399 broad.mit.edu 37 1 216595579 216595579 + Missense_Mutation SNP G G C rs141672841 by1000genomes TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:216595579G>C ENST00000366943.2 - 2 486 c.100C>G c.(100-102)Cga>Gga p.R34G USH2A_ENST00000366942.3_Missense_Mutation_p.R34G|USH2A_ENST00000307340.3_Missense_Mutation_p.R34G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 34 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) AAAAGACCTCGTGACTCAGTC 0.458000 HNSCC(13;0.011) 5 55 0 0 0.001168 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422373 47422373 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:47422373G>A ENST00000404338.3 + 1 441 c.441G>A c.(439-441)caG>caA p.Q147Q NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 147 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity ACTTTGAGCAGAAACAAATGC 0.473000 7 36 0 0 0.003080 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518403 106518403 + RNA SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:106518403C>G ENST00000390598.2 - 0 426 CTGTGTCTCTCGCACAGTAAT 0.577000 8 193 0 0 0.004482 0 0 EIF2B5 8893 broad.mit.edu 37 3 183858262 183858262 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:183858262C>G ENST00000273783.3 + 7 1022 c.900C>G c.(898-900)gtC>gtG p.V300V EIF2B5_ENST00000444495.1_Silent_p.V300V NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 300 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GTGCCCGTGTCTCCAACCTAC 0.532000 8 245 0 0 0.003080 0 0 RBM41 55285 broad.mit.edu 37 X 106310852 106310852 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:106310852C>G ENST00000372487.1 - 7 1173 c.1147G>C c.(1147-1149)Gag>Cag p.E383Q RBM41_ENST00000372479.3_Missense_Mutation_p.E383Q NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 383 RRM. nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TTTCCAAACTCTATCACCAAT 0.348000 21 142 0 0 0.001523 0 0 TRIM41 90933 broad.mit.edu 37 5 180661721 180661721 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:180661721C>G ENST00000315073.5 + 6 2549 c.1839C>G c.(1837-1839)gtC>gtG p.V613V TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 613 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGAGCGTGTCTTTCCTTTCT 0.617000 5 76 0 0 0.001168 0 0 BST2 684 broad.mit.edu 37 19 17516356 17516356 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:17516356C>G ENST00000252593.6 - 1 101 c.29G>C c.(28-30)aGa>aCa p.R10T NM_004335.2 NP_004326.1 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 10 B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome protein homodimerization activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2) 9 CATGGGCACTCTGCAATAGTC 0.527000 9 86 0 0 0.004482 0 0 USP44 84101 broad.mit.edu 37 12 95927967 95927967 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:95927967G>C ENST00000258499.3 - 2 354 c.66C>G c.(64-66)ctC>ctG p.L22L USP44_ENST00000537435.2_Silent_p.L22L|USP44_ENST00000393091.2_Silent_p.L22L|USP44_ENST00000552440.1_Silent_p.L22L NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 22 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 TCTGAGGGTTGAGGCTGGAAT 0.478000 OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 124 0 0 0.004482 0 0 NTF3 4908 broad.mit.edu 37 12 5603633 5603633 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:5603633G>A ENST00000423158.3 + 2 504 c.292G>A c.(292-294)Gtg>Atg p.V98M NTF3_ENST00000331010.6_Missense_Mutation_p.V85M|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 85 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 ATTCCAGCCGGTGATTGCAAT 0.622000 13 40 0 0 0.004007 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035186 110035186 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:110035186C>G ENST00000453089.2 + 5 2164 c.1283C>G c.(1282-1284)gCa>gGa p.A428G ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A460G|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A459G Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 459 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GCCAAAACTGCAAACGAAGGA 0.498000 9 36 0 0 0.008291 0 0 VGLL1 51442 broad.mit.edu 37 X 135618272 135618272 + Silent SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:135618272C>A ENST00000370634.3 + 2 263 c.93C>A c.(91-93)acC>acA p.T31T NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) TCCTTTTCACCTACTTCCAAG 0.507000 16 85 3.41278e-10 4.7633e-10 0.004990 1 0 DNM1 1759 broad.mit.edu 37 9 130982498 130982498 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:130982498G>T ENST00000341179.7 + 6 819 c.727G>T c.(727-729)Gat>Tat p.D243Y DNM1_ENST00000486160.1_Missense_Mutation_p.D243Y|DNM1_ENST00000393594.3_Missense_Mutation_p.D243Y|DNM1_ENST00000372923.3_Missense_Mutation_p.D243Y|DNM1_ENST00000475805.1_Missense_Mutation_p.D243Y NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 243 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 GAAGGACATTGATGGCAAGAA 0.562000 20 86 8.04996e-18 1.14187e-17 0.001882 1 0 MYOF 26509 broad.mit.edu 37 10 95162073 95162073 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:95162073G>C ENST00000371501.4 - 11 1028 c.906C>G c.(904-906)ctC>ctG p.L302L MYOF_ENST00000358334.5_Silent_p.L302L|MYOF_ENST00000371489.1_Silent_p.L302L|MYOF_ENST00000359263.4_Silent_p.L302L|MYOF_ENST00000371502.4_Silent_p.L302L Q9NZM1 MYOF_HUMAN myoferlin 302 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCGGGTCATTGAGAAGAAGCC 0.438000 3 70 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158590153 158590153 + Missense_Mutation SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:158590153A>T ENST00000368148.3 - 44 6404 c.6224T>A c.(6223-6225)cTg>cAg p.L2075Q SPTA1_ENST00000368147.3_Missense_Mutation_p.L2072Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2075 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AATTTCATTCAGGGAGACACA 0.488000 9 45 0 0 0.004482 0 0 STAB2 55576 broad.mit.edu 37 12 104147067 104147067 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:104147067G>C ENST00000388887.2 + 61 6854 c.6650G>C c.(6649-6651)aGa>aCa p.R2217T RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2217 Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GACAAAGCCAGAGAGGCCTGT 0.547000 4 49 0 0 0.000602 0 0 CHERP 10523 broad.mit.edu 37 19 16630439 16630439 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:16630439C>T ENST00000546361.2 - 16 2701 c.2550G>A c.(2548-2550)gtG>gtA p.V850V CHERP_ENST00000198939.6_Silent_p.V861V|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 850 G-patch. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TACCCATCTTCACCAGCATCT 0.592000 7 175 0 0 0.001984 0 0 A2ML1 144568 broad.mit.edu 37 12 9001367 9001367 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:9001367G>C ENST00000299698.7 + 16 2065 c.1885G>C c.(1885-1887)Gag>Cag p.E629Q A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.E138Q NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 473 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TCAAGTGGCTGAGTATGATCA 0.502000 5 144 0 0 0.001168 0 0 PEX13 5194 broad.mit.edu 37 2 61258828 61258828 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:61258828G>A ENST00000295030.4 + 2 405 c.367G>A c.(367-369)Gaa>Aaa p.E123K PEX13_ENST00000472678.1_3'UTR NM_002618.3 NP_002609.1 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 123 cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) TCAGCAAGCTGAAGAAAGCAG 0.438000 10 103 0 0 0.000978 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135113087 135113087 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:135113087C>T ENST00000368563.2 - 4 656 c.300G>A c.(298-300)caG>caA p.Q100Q TUBGCP2_ENST00000543663.1_Silent_p.Q100Q|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000252936.3_Silent_p.Q100Q|TUBGCP2_ENST00000417178.2_5'UTR NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 100 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTTTTGCATTCTGTTGTAAGT 0.547000 7 60 0 0 0.003080 0 0 NOS2 4843 broad.mit.edu 37 17 26107873 26107873 + Silent SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:26107873G>T ENST00000313735.6 - 9 1157 c.924C>A c.(922-924)gtC>gtA p.V308V NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 308 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGGCCTGCAGGACCAGGGGGA 0.612000 5 47 1.024e-07 1.39929e-07 0.000602 1 0 GPC3 2719 broad.mit.edu 37 X 133119399 133119399 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:133119399G>A ENST00000370818.3 - 1 523 c.78C>T c.(76-78)ccC>ccT p.P26P GPC3_ENST00000543339.1_Silent_p.P26P|GPC3_ENST00000394299.2_Silent_p.P26P NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 26 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) GCGGCGGCGGGGGCTGCGCCT 0.687000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 5 6 0 0 0.000602 0 0 ATP2C1 27032 broad.mit.edu 37 3 130714889 130714889 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:130714889C>T ENST00000510168.1 + 23 2610 c.2060C>T c.(2059-2061)tCt>tTt p.S687F ATP2C1_ENST00000504381.1_Missense_Mutation_p.S632F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S687F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S671F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S682F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S687F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S687F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S721F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S687F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S687F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 687 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) AATTTCAGGTCTGCAATCGAA 0.294000 Hailey-Hailey disease 9 104 0 0 0.006214 0 0 ZNF385A 25946 broad.mit.edu 37 12 54765456 54765456 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:54765456C>T ENST00000546970.1 - 6 694 c.405G>A c.(403-405)gaG>gaA p.E135E ZNF385A_ENST00000551109.1_Silent_p.E135E|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000338010.5_Silent_p.E155E|ZNF385A_ENST00000394313.2_Silent_p.E135E Q96PM9 Z385A_HUMAN zinc finger protein 385A 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.E135E(2)|p.E135D(2)|p.E155E(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CAGGCTGTTTCTCTGGGGATC 0.602000 8 63 0 0 0.004482 0 0 MYO1D 4642 broad.mit.edu 37 17 31099833 31099833 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:31099833C>T ENST00000318217.5 - 5 896 c.592G>A c.(592-594)Gaa>Aaa p.E198K MYO1D_ENST00000579584.1_Missense_Mutation_p.E198K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E198K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E110K NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 198 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) AAGCTTCTTTCTCCTGGCTGT 0.378000 4 172 0 0 0.001168 0 0 IPO13 9670 broad.mit.edu 37 1 44424492 44424492 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:44424492C>G ENST00000372343.3 + 11 2621 c.1959C>G c.(1957-1959)atC>atG p.I653M NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 653 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CACTGGACATCAGTCATCATG 0.552000 7 81 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82546170 82546170 + Missense_Mutation SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:82546170A>G ENST00000423517.2 - 7 11469 c.11132T>C c.(11131-11133)aTg>aCg p.M3711T PCLO_ENST00000437081.1_Missense_Mutation_p.M431T|PCLO_ENST00000333891.8_Missense_Mutation_p.M3711T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3642 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 AGAGGATGTCATGGTTTGAGA 0.343000 13 76 0 0 0.002450 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005950 30005950 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:30005950C>A ENST00000279392.3 - 4 1346 c.516G>T c.(514-516)agG>agT p.R172S HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 172 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 CAGGTTTCTTCCTAGTCTTCC 0.572000 24 218 7.87624e-14 1.1142e-13 0.002780 1 0 DLG4 1742 broad.mit.edu 37 17 7094030 7094030 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:7094030G>C ENST00000399510.2 - 22 3153 c.2301C>G c.(2299-2301)ctC>ctG p.L767L DLG4_ENST00000302955.6_Silent_p.L721L|DLG4_ENST00000399506.2_Silent_p.L724L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 724 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCAGGAATCAGAGTCTCTCTC 0.622000 5 50 0 0 0.001168 0 0 PENK 5179 broad.mit.edu 37 8 57354182 57354182 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:57354182G>A ENST00000314922.3 - 2 529 c.453C>T c.(451-453)gcC>gcT p.A151A PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.A151A NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 151 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CTGAGGAATTGGCCAGCGAGT 0.537000 12 79 0 0 0.001368 0 0 MEAF6 64769 broad.mit.edu 37 1 37975083 37975083 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:37975083G>A ENST00000373075.2 - 3 283 c.267C>T c.(265-267)ttC>ttT p.F89F MEAF6_ENST00000373074.1_Silent_p.F67F|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000296214.5_Silent_p.F89F|MEAF6_ENST00000448519.2_Silent_p.F89F|MEAF6_ENST00000373073.4_Silent_p.F89F NM_022756.4 NP_073593.2 Q9HAF1 EAF6_HUMAN MYST/Esa1-associated factor 6 89 histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 AGGATTTACTGAAGAGCCGCT 0.438000 6 179 0 0 0.001984 0 0 CREBBP 1387 broad.mit.edu 37 16 3781236 3781236 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:3781236C>G ENST00000262367.5 - 30 5938 c.5129G>C c.(5128-5130)tGc>tCc p.C1710S CREBBP_ENST00000382070.3_Missense_Mutation_p.C1672S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1710 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGTGCTTGCACTCGTTGCA 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 44 0 0 0.000602 0 0 C11orf84 144097 broad.mit.edu 37 11 63585545 63585545 + Nonsense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:63585545G>A ENST00000294244.4 + 2 695 c.396G>A c.(394-396)tgG>tgA p.W132* NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 132 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 TGGAGGCCTGGAGTGAAGGGG 0.622000 4 67 0 0 0.000602 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562015 32562015 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:32562015C>T ENST00000345122.3 + 2 2455 c.2140C>T c.(2140-2142)Ctc>Ttc p.L714F ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L714F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L714F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L714F NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 714 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCTACCAATTCTCAGGCACCA 0.368000 12 39 0 0 0.002450 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759087 176759087 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:176759087C>T ENST00000367662.3 + 18 6022 c.4858C>T c.(4858-4860)Ctc>Ttc p.L1620F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1620 Sushi 4. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAGTGTGTGCTCAACTGTAA 0.463000 9 75 0 0 0.006214 0 0 TSC22D2 9819 broad.mit.edu 37 3 150127773 150127773 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:150127773G>A ENST00000361875.2 + 1 1652 c.636G>A c.(634-636)gcG>gcA p.A212A TSC22D2_ENST00000361136.2_Silent_p.A212A NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 212 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ACCAGACTGCGGAGCGGGACA 0.607000 11 90 0 0 0.000978 0 0 SYNE4 163183 broad.mit.edu 37 19 36494303 36494303 + Missense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:36494303T>A ENST00000324444.3 - 8 1262 c.1151A>T c.(1150-1152)cAt>cTt p.H384L SYNE4_ENST00000340477.5_Missense_Mutation_p.H271L NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 TATTCGGGCATGAGAGCAGCA 0.557000 8 24 0 0 0.004482 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796789 62796789 + RNA SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:62796789G>C ENST00000582986.1 - 0 1131 NR_024386.1 TTCGTCCTGGGAGGAGGCGCG 0.642000 3 27 0 0 0.004672 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905988 144905988 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:144905988G>T ENST00000370490.1 + 1 6300 c.2045G>T c.(2044-2046)gGc>gTc p.G682V SLITRK2_ENST00000447897.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G682V Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 682 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AAAACAGACGGCCATGTCTAC 0.488000 6 68 8.12818e-05 0.000107688 0.001984 1 0 RSPO1 284654 broad.mit.edu 37 1 38079871 38079871 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:38079871C>T ENST00000356545.2 - 6 1208 c.421G>A c.(421-423)Gag>Aag p.E141K RSPO1_ENST00000401068.1_Missense_Mutation_p.E141K|RSPO1_ENST00000373059.1_Missense_Mutation_p.E114K|RSPO1_ENST00000401070.1_Missense_Mutation_p.E141K|RSPO1_ENST00000401071.2_Missense_Mutation_p.E141K|RSPO1_ENST00000401069.1_Missense_Mutation_p.E141K NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 141 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) CTACTGCACTCCATGGTGCCA 0.617000 4 16 0 0 0.000248 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002532 69002532 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:69002532G>A ENST00000295381.3 + 2 660 c.241G>A c.(241-243)Gaa>Aaa p.E81K ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E81K|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.E55K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E74K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E74K|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E81K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E74K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 81 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTACAAGGATGAAGAGGACAC 0.562000 5 114 0 0 0.000602 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84539583 84539583 + Nonsense_Mutation SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:84539583A>T ENST00000286744.5 + 9 1056 c.832A>T c.(832-834)Aaa>Taa p.K278* ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.K278* NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 278 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCAAGGAAGCAAAGGAGAACA 0.348000 3 23 0 0 0.000248 0 0 G6PC2 57818 broad.mit.edu 37 2 169763265 169763265 + Nonsense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:169763265C>T ENST00000375363.3 + 4 624 c.532C>T c.(532-534)Caa>Taa p.Q178* G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000461586.1_Intron|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 178 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 TTTTCCTCATCAAGTTATTCT 0.368000 10 66 0 0 0.006214 0 0 DROSHA 29102 broad.mit.edu 37 5 31526746 31526746 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:31526746G>C ENST00000511367.2 - 4 538 c.294C>G c.(292-294)atC>atG p.I98M DROSHA_ENST00000344624.3_Missense_Mutation_p.I98M|DROSHA_ENST00000513349.1_Missense_Mutation_p.I98M|DROSHA_ENST00000442743.1_Missense_Mutation_p.I98M NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 98 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AAGGCGGCCTGATTGGGCAGG 0.602000 3 33 0 0 0.004672 0 0 ADAM29 11086 broad.mit.edu 37 4 175898164 175898164 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr4:175898164G>C ENST00000359240.3 + 5 2158 c.1488G>C c.(1486-1488)aaG>aaC p.K496N ADAM29_ENST00000445694.1_Missense_Mutation_p.K496N|ADAM29_ENST00000404450.4_Missense_Mutation_p.K496N|ADAM29_ENST00000514159.1_Missense_Mutation_p.K496N NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 496 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GCTATGAAAAGAGCTGTCATG 0.458000 3 90 0 0 0.000248 0 0 TULP1 7287 broad.mit.edu 37 6 35477522 35477522 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:35477522C>T ENST00000229771.6 - 7 686 c.607G>A c.(607-609)Ggg>Agg p.G203R TULP1_ENST00000322263.4_Missense_Mutation_p.G150R NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 203 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TCGGCCTCCCCAGACCCTGCA 0.597000 6 60 0 0 0.001984 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622990 65622990 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:65622990C>T ENST00000327987.4 - 10 1902 c.1651G>A c.(1651-1653)Gag>Aag p.E551K NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 551 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AAGCCGCCCTCGTGCTGGGCC 0.657000 7 28 0 0 0.001984 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107210985 107210985 + RNA SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:107210985G>C ENST00000390636.2 - 0 383 TTCATTTGCAGATACGCCGTG 0.512000 3 99 0 0 0.004672 0 0 PAK2 5062 broad.mit.edu 37 3 196534778 196534778 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:196534778G>C ENST00000327134.3 + 7 1024 c.702G>C c.(700-702)gaG>gaC p.E234D NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 234 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AGATTATGGAGAAATTAAGTA 0.353000 5 53 0 0 0.000602 0 0 MORC4 79710 broad.mit.edu 37 X 106186010 106186010 + Nonsense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:106186010G>C ENST00000355610.4 - 15 2385 c.2111C>G c.(2110-2112)tCa>tGa p.S704* MORC4_ENST00000255495.7_Nonsense_Mutation_p.S704*|MORC4_ENST00000535534.1_Nonsense_Mutation_p.S452* NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 704 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GGGAGCTCCTGAATCTCTAAC 0.463000 5 127 0 0 0.000602 0 0 HECTD1 25831 broad.mit.edu 37 14 31602531 31602531 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:31602531G>A ENST00000399332.1 - 24 4323 c.3835C>T c.(3835-3837)Cgt>Tgt p.R1279C HECTD1_ENST00000553700.1_Missense_Mutation_p.R1279C NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1279 MIB/HERC2. 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) CTGATAACACGAGCTCCTGGA 0.507000 4 33 0 0 0.000602 0 0 BEND3 57673 broad.mit.edu 37 6 107419877 107419877 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:107419877C>T ENST00000429433.2 - 4 767 c.118G>A c.(118-120)Gag>Aag p.E40K BEND3_ENST00000369042.1_Missense_Mutation_p.E40K NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 40 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GAGTGCTTCTCAGAAGTCCTG 0.527000 7 87 0 0 0.004482 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718193 50718193 + Nonsense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:50718193C>A ENST00000449103.1 - 27 4395 c.4255G>T c.(4255-4257)Gag>Tag p.E1419* PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.E1419* O15031 PLXB2_HUMAN plexin B2 1419 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TACAGGGGCTCCCCGGCACTG 0.637000 11 79 1.61879e-10 2.27153e-10 0.001368 1 0 TENM4 26011 broad.mit.edu 37 11 78369787 78369787 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:78369787G>A ENST00000278550.7 - 34 8088 c.7626C>T c.(7624-7626)ctC>ctT p.L2542L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGGAGCCATAGAGCTGGTCAA 0.532000 7 39 0 0 0.001984 0 0 C16orf93 90835 broad.mit.edu 37 16 30771729 30771729 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:30771729C>T ENST00000543610.1 - 4 1306 c.345G>A c.(343-345)ctG>ctA p.L115L PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000545825.1_Silent_p.L115L|C16orf93_ENST00000541260.1_Silent_p.L115L NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 115 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TGGCGTCCCTCAGGCTCTGCT 0.622000 7 58 0 0 0.001984 0 0 CLEC9A 283420 broad.mit.edu 37 12 10206897 10206897 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:10206897C>T ENST00000355819.1 + 5 732 c.119C>T c.(118-120)tCa>tTa p.S40L NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 40 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 ATGGTGATTTCATGTGTTTTC 0.348000 6 34 0 0 0.004482 0 0 CDC20 991 broad.mit.edu 37 1 43824905 43824905 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:43824905G>C ENST00000372462.1 + 1 222 c.19G>C c.(19-21)Gag>Cag p.E7Q CDC20_ENST00000310955.6_Missense_Mutation_p.E7Q Q12834 CDC20_HUMAN cell division cycle 20 7 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTTCGCGTTCGAGAGTGACCT 0.682000 3 85 0 0 0.004672 0 0 FGD4 121512 broad.mit.edu 37 12 32760963 32760963 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:32760963G>C ENST00000427716.2 + 8 1490 c.1066G>C c.(1066-1068)Gag>Cag p.E356Q FGD4_ENST00000266482.3_Missense_Mutation_p.E108Q|FGD4_ENST00000525053.1_Missense_Mutation_p.E468Q|FGD4_ENST00000381025.3_Missense_Mutation_p.E108Q|FGD4_ENST00000531134.1_Missense_Mutation_p.E441Q|FGD4_ENST00000534526.2_Missense_Mutation_p.E493Q|FGD4_ENST00000546442.1_Missense_Mutation_p.E263Q NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 356 DH. 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) TCCCCGGTATGAGATGCTCCT 0.398000 9 79 0 0 0.006214 0 0 PDE11A 50940 broad.mit.edu 37 2 178969143 178969143 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:178969143G>A ENST00000358450.4 - 2 146 c.48C>T c.(46-48)gcC>gcT p.A16A NM_001077197.1 NP_001070665.1 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 0 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCCACTGTGTGGCACTGAGCA 0.418000 Primary Pigmented Nodular Adrenocortical Disease, Familial 4 58 0 0 0.000248 0 0 PDCD7 10081 broad.mit.edu 37 15 65421447 65421447 + Missense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:65421447T>A ENST00000204549.4 - 2 986 c.932A>T c.(931-933)gAt>gTt p.D311V NM_005707.1 NP_005698.1 Q8N8D1 PDCD7_HUMAN programmed cell death 7 311 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 TCTTTTGGTATCTGCTTGTTT 0.463000 37 226 0 0 0.006230 0 0 ITGAL 3683 broad.mit.edu 37 16 30518166 30518166 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:30518166G>C ENST00000356798.6 + 21 2677 c.2497G>C c.(2497-2499)Gag>Cag p.E833Q ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E749Q NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 833 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCGCAAGGTGGAGATGCTGAA 0.612000 5 106 0 0 0.000602 0 0 ZNF592 9640 broad.mit.edu 37 15 85326841 85326841 + Nonsense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:85326841C>G ENST00000299927.3 + 1 957 c.935C>G c.(934-936)tCa>tGa p.S312* ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S312* Q92610 ZN592_HUMAN zinc finger protein 592 312 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AAGGATCTCTCAGGGCCCACT 0.537000 5 90 0 0 0.001168 0 0 TXNIP 10628 broad.mit.edu 37 1 145440064 145440064 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:145440064G>T ENST00000369317.4 + 4 832 c.498G>T c.(496-498)aaG>aaT p.K166N TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 166 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAAAAGAAAAGAAAGTTTCCT 0.418000 9 250 2.17888e-05 2.90888e-05 0.006214 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37454039 37454039 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:37454039G>A ENST00000374660.1 + 18 1951 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 674 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E618K(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACTCCCATCAGAATCCAAACA 0.284000 12 54 0 0 0.003163 0 0 GAN 8139 broad.mit.edu 37 16 81390414 81390414 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:81390414G>T ENST00000248272.3 + 4 820 c.658G>T c.(658-660)Gct>Tct p.A220S NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 220 BACK. cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) TGTTATGTCAGCTCTGTGGGT 0.413000 10 70 3.86212e-05 5.14292e-05 0.008291 1 0 MICALL1 85377 broad.mit.edu 37 22 38320698 38320698 + Silent SNP G G A rs147560297 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:38320698G>A ENST00000215957.6 + 7 1182 c.1056G>A c.(1054-1056)ccG>ccA p.P352P NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 352 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TCCCCAAGCCGAGGGGGACAC 0.642000 11 55 0 0 0.001855 0 0 GGA2 23062 broad.mit.edu 37 16 23498078 23498078 + Nonsense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:23498078C>A ENST00000309859.4 - 7 695 c.613G>T c.(613-615)Gag>Tag p.E205* GGA2_ENST00000567468.1_Nonsense_Mutation_p.E205* NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 205 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) TGAAGGTCCTCGGGGTGGTTG 0.507000 26 163 7.07758e-08 9.69684e-08 0.004656 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730115 53730115 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:53730115C>T ENST00000262135.4 - 3 271 c.178G>A c.(178-180)Gag>Aag p.E60K RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E60K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 60 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AAAATGTTCTCATCATGCAAA 0.388000 7 149 0 0 0.003080 0 0 DICER1 23405 broad.mit.edu 37 14 95598909 95598909 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:95598909G>C ENST00000526495.1 - 5 541 c.250C>G c.(250-252)Cag>Gag p.Q84E DICER1_ENST00000527414.1_Missense_Mutation_p.Q84E|DICER1_ENST00000393063.1_Missense_Mutation_p.Q84E|DICER1_ENST00000343455.3_Missense_Mutation_p.Q84E|DICER1_ENST00000541352.1_Missense_Mutation_p.Q84E Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 84 Helicase ATP-binding. VLLTKELSYQIRGDFS -> STTLLKSCLYLDLGETSA (in Ref. 1; BAA78691). negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.Q84E(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CCCCTGATCTGATAGGACAGC 0.408000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 4 85 0 0 0.000248 0 0 OR5R1 219479 broad.mit.edu 37 11 56185023 56185023 + Missense_Mutation SNP C C A rs149197985 byFrequency TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:56185023C>A ENST00000312253.1 - 1 685 c.686G>T c.(685-687)cGc>cTc p.R229L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CTGAGTAGAGCGGATCCTTAG 0.448000 6 68 0.00198382 0.00256325 0.001984 1 0 USF1 7391 broad.mit.edu 37 1 161011920 161011920 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:161011920G>C ENST00000368021.3 - 5 466 c.262C>G c.(262-264)Caa>Gaa p.Q88E USF1_ENST00000435396.1_Missense_Mutation_p.Q29E|USF1_ENST00000368019.1_Missense_Mutation_p.Q88E|USF1_ENST00000368020.1_Missense_Mutation_p.Q88E NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 88 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GTCATGGATTGAGTGGCAGGG 0.537000 9 50 0 0 0.004482 0 0 MAU2 23383 broad.mit.edu 37 19 19453632 19453632 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:19453632G>C ENST00000392313.5 + 9 976 c.930G>C c.(928-930)caG>caC p.Q310H MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.Q310H NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 310 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 AGAAGGCGCAGAAGTACACGG 0.632000 OREG0025380 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 208 0 0 0.003080 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123528 12123528 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:12123528G>T ENST00000379388.2 + 4 3832 c.3500G>T c.(3499-3501)aGa>aTa p.R1167I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1167 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAGCTGAATAGAACGGGGAAG 0.522000 4 41 0.00024832 0.00032816 0.000248 1 0 GRIK3 2899 broad.mit.edu 37 1 37307505 37307505 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:37307505C>T ENST00000373091.3 - 10 1378 c.1362G>A c.(1360-1362)agG>agA p.R454R GRIK3_ENST00000373093.4_Silent_p.R454R NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 454 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGTATAGCGTCCTGTCTGATT 0.577000 8 95 0 0 0.004482 0 0 LRFN5 145581 broad.mit.edu 37 14 42356638 42356638 + Silent SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:42356638T>A ENST00000554171.1 + 5 3242 c.810T>A c.(808-810)acT>acA p.T270T LRFN5_ENST00000298119.4_Silent_p.T270T|LRFN5_ENST00000554120.1_Silent_p.T270T Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 270 LRRCT. integral to membrane p.T270T(1)|p.G271C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CACTTTTAACTGGCCGCTACT 0.468000 HNSCC(30;0.082) 18 82 0 0 0.007413 0 0 AGAP6 414189 broad.mit.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:51749089C>G ENST00000412531.3 + 2 317 c.245C>G c.(244-246)gCc>gGc p.A82G AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 82 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.A82G(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AACCTTTCTGCCAATCCAGAG 0.343000 3 73 0 0 0.000602 0 0 TMEM169 92691 broad.mit.edu 37 2 216964811 216964811 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:216964811G>C ENST00000454545.1 + 4 766 c.440G>C c.(439-441)aGa>aCa p.R147T TMEM169_ENST00000295658.4_Missense_Mutation_p.R147T|TMEM169_ENST00000406027.2_Missense_Mutation_p.R147T|TMEM169_ENST00000437356.2_Missense_Mutation_p.R147T NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 147 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGAAGGAAGAATGGCCTGC 0.517000 5 50 0 0 0.000602 0 0 SFMBT2 57713 broad.mit.edu 37 10 7218015 7218015 + Missense_Mutation SNP T T G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:7218015T>G ENST00000361972.4 - 17 2011 c.1921A>C c.(1921-1923)Agt>Cgt p.S641R SFMBT2_ENST00000397167.1_Missense_Mutation_p.S641R NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 641 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGCACAGGACTAAACAAATTT 0.433000 20 107 0 0 0.001523 0 0 CTGF 1490 broad.mit.edu 37 6 132270425 132270425 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:132270425C>G ENST00000367976.3 - 5 1229 c.1029G>C c.(1027-1029)aaG>aaC p.K343N NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 343 Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CTCCGTACATCTTCCTGTAGT 0.423000 4 86 0 0 0.000602 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215870 130215870 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:130215870C>G ENST00000276211.5 + 2 576 c.231C>G c.(229-231)ctC>ctG p.L77L ARHGAP36_ENST00000370922.1_Silent_p.L65L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 77 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GACATTTCCTCTCCGAATTCA 0.577000 3 109 0 0 0.000248 0 0 MCM5 4174 broad.mit.edu 37 22 35811832 35811832 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:35811832C>G ENST00000216122.4 + 10 1368 c.1214C>G c.(1213-1215)tCt>tGt p.S405C MCM5_ENST00000382011.5_Missense_Mutation_p.S362C|MCM5_ENST00000465557.1_3'UTR NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 405 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 GTATACACGTCTGGGAAAGGC 0.572000 18 129 0 0 0.004990 0 0 TEX37 200523 broad.mit.edu 37 2 88828655 88828655 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:88828655C>T ENST00000303254.3 + 4 348 c.206C>T c.(205-207)cCt>cTt p.P69L NM_152670.2 NP_689883.1 testis expressed 37 p.P69H(1) GATGGGTACCCTGCTTTCAAA 0.547000 4 50 0 0 0.000602 0 0 GRHL3 57822 broad.mit.edu 37 1 24663238 24663238 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:24663238C>T ENST00000361548.4 + 4 763 c.533C>T c.(532-534)tCc>tTc p.S178F GRHL3_ENST00000356046.2_Missense_Mutation_p.S132F|GRHL3_ENST00000350501.5_Missense_Mutation_p.S178F|GRHL3_ENST00000342072.4_Missense_Mutation_p.S85F|GRHL3_ENST00000236255.4_Missense_Mutation_p.S183F NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 178 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TCCCTCAACTCCTTGTTTGAG 0.607000 13 83 0 0 0.003163 0 0 SENP7 57337 broad.mit.edu 37 3 101080669 101080669 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:101080669C>G ENST00000394095.2 - 11 1566 c.1513G>C c.(1513-1515)Gag>Cag p.E505Q SENP7_ENST00000358203.3_Missense_Mutation_p.E341Q|SENP7_ENST00000348610.3_Missense_Mutation_p.E472Q|SENP7_ENST00000394091.1_Missense_Mutation_p.E341Q|SENP7_ENST00000314261.7_Missense_Mutation_p.E439Q|SENP7_ENST00000394094.2_Missense_Mutation_p.E440Q NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 505 proteolysis nucleus cysteine-type peptidase activity p.E505*(1)|p.E439*(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GAAATGTTCTCCATGACAGGA 0.294000 8 49 0 0 0.003080 0 0 GALNT5 11227 broad.mit.edu 37 2 158140947 158140947 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:158140947C>T ENST00000259056.4 + 2 2093 c.1608C>T c.(1606-1608)gaC>gaT p.D536D NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 536 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TGGTAGATGACTTCAGCACCA 0.438000 5 16 0 0 0.001168 0 0 TPRA1 131601 broad.mit.edu 37 3 127294632 127294632 + Silent SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:127294632G>T ENST00000355552.3 - 8 1006 c.630C>A c.(628-630)atC>atA p.I210I TPRA1_ENST00000489960.1_Silent_p.I210I|TPRA1_ENST00000450633.2_Silent_p.I210I|TPRA1_ENST00000296210.7_Intron NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 210 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 TCTTGGGAAGGATGACCACCA 0.647000 13 51 4.36969e-10 6.08261e-10 0.001855 1 0 CROT 54677 broad.mit.edu 37 7 86978488 86978488 + Missense_Mutation SNP A A C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:86978488A>C ENST00000331536.3 + 3 289 c.104A>C c.(103-105)tAc>tCc p.Y35S CROT_ENST00000442291.1_Missense_Mutation_p.Y35S|CROT_ENST00000412227.2_Missense_Mutation_p.Y35S|CROT_ENST00000419147.2_Missense_Mutation_p.Y35S NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 35 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TTAAAAAAATACCTTGAATCA 0.333000 8 33 0 0 0.003080 0 0 DTNB 1838 broad.mit.edu 37 2 25705667 25705667 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:25705667C>G ENST00000406818.3 - 10 1326 c.1077G>C c.(1075-1077)aaG>aaC p.K359N DTNB_ENST00000288642.8_Missense_Mutation_p.K359N|DTNB_ENST00000407186.1_Missense_Mutation_p.K359N|DTNB_ENST00000545439.1_Missense_Mutation_p.K155N|DTNB_ENST00000496972.2_Missense_Mutation_p.K302N|DTNB_ENST00000404103.3_Missense_Mutation_p.K359N|DTNB_ENST00000405222.1_Missense_Mutation_p.K359N|DTNB_ENST00000407661.3_Missense_Mutation_p.K359N|DTNB_ENST00000407038.3_Missense_Mutation_p.K359N NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 359 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACGTACCTCTTGGTGGGAG 0.498000 9 36 0 0 0.004482 0 0 EFR3A 23167 broad.mit.edu 37 8 132996518 132996518 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:132996518G>T ENST00000254624.5 + 15 1933 c.1708G>T c.(1708-1710)Gat>Tat p.D570Y EFR3A_ENST00000519656.1_Missense_Mutation_p.D534Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.D570Y NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 570 plasma membrane binding p.D570H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AGTAGTTATTGATCTCATTCG 0.358000 19 89 6.49762e-13 9.16691e-13 0.006122 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433779 73433779 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:73433779G>A ENST00000263666.4 - 10 2052 c.1938C>T c.(1936-1938)ttC>ttT p.F646F PDZRN3_ENST00000535920.1_Silent_p.F368F|PDZRN3_ENST00000462146.2_Silent_p.F303F|PDZRN3_ENST00000479530.1_Silent_p.F363F|PDZRN3_ENST00000466780.1_Silent_p.F303F NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 646 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGAGCTCGCGGAAGCGCTCGC 0.657000 21 59 0 0 0.001523 0 0 MED1 5469 broad.mit.edu 37 17 37571363 37571363 + Nonsense_Mutation SNP G G C rs1139821 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:37571363G>C ENST00000300651.6 - 16 1638 c.1415C>G c.(1414-1416)tCa>tGa p.S472* MED1_ENST00000394287.3_Nonsense_Mutation_p.S472* NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 472 Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA. DS -> GL (in Ref. 1; CAA73867). androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CACATGTGTTGAGTCCTGCAC 0.418000 HNSCC(31;0.082) 13 230 0 0 0.002450 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202893 37202893 + Missense_Mutation SNP A A C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:37202893A>C ENST00000262879.6 + 29 4527 c.4243A>C c.(4243-4245)Atg>Ctg p.M1415L RALGAPB_ENST00000397038.1_Missense_Mutation_p.M1194L|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.M1412L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.M1415L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1415 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AAAATTTAATATGGTCATCCC 0.383000 4 84 0 0 0.001168 0 0 DSG1 1828 broad.mit.edu 37 18 28935210 28935210 + Silent SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr18:28935210T>C ENST00000257192.4 + 15 3263 c.3051T>C c.(3049-3051)agT>agC p.S1017S RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S376S NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 1017 Gly/Ser-rich. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACATGAGGAGTTCCTCTGACC 0.547000 7 30 0 0 0.003080 0 0 GPSM2 29899 broad.mit.edu 37 1 109439567 109439567 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:109439567C>G ENST00000406462.1 + 4 911 c.138C>G c.(136-138)ttC>ttG p.F46L AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.F46L P81274 GPSM2_HUMAN G-protein signaling modulator 2 46 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) GCGTGTCATTCTTTGAAGCTG 0.443000 8 113 0 0 0.006214 0 0 ABCF3 55324 broad.mit.edu 37 3 183909032 183909032 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:183909032C>A ENST00000429586.2 + 16 1743 c.1558C>A c.(1558-1560)Cgc>Agc p.R520S ABCF3_ENST00000292808.5_Missense_Mutation_p.R514S|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 520 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTCGAGTCTCGCATCTGTGT 0.537000 42 104 6.61955e-31 9.41527e-31 0.003610 1 0 GALNT11 63917 broad.mit.edu 37 7 151791494 151791494 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:151791494G>A ENST00000434507.1 + 4 619 c.182G>A c.(181-183)cGa>cAa p.R61Q GALNT11_ENST00000430044.2_Missense_Mutation_p.R61Q|GALNT11_ENST00000415421.1_Missense_Mutation_p.R61Q|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Missense_Mutation_p.R61Q|GALNT11_ENST00000422997.2_Missense_Mutation_p.R61Q Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 61 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CGTTTCACTCGAGGCCCAAGT 0.483000 6 66 0 0 0.001168 0 0 DHPS 1725 broad.mit.edu 37 19 12791023 12791023 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:12791023G>C ENST00000210060.7 - 2 459 c.324C>G c.(322-324)atC>atG p.I108M DHPS_ENST00000594424.1_Missense_Mutation_p.I66M|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Missense_Mutation_p.I108M NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 108 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Sulfadoxine(DB01299) TGCCTGAACTGATGAGGTTGG 0.577000 4 247 0 0 0.000248 0 0 FUT11 170384 broad.mit.edu 37 10 75533400 75533400 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:75533400C>T ENST00000372841.3 + 2 1204 c.1161C>T c.(1159-1161)ttC>ttT p.F387F FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.F387F NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 387 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) TCAACGGCTTCGAGTGTTTCG 0.577000 6 63 0 0 0.001168 0 0 HERPUD1 9709 broad.mit.edu 37 16 56974053 56974053 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:56974053G>C ENST00000439977.2 + 6 998 c.801G>C c.(799-801)tgG>tgC p.W267C HERPUD1_ENST00000379792.2_Missense_Mutation_p.W242C|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.W266C NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 267 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 GGTTGGATTGGACCTATTCAG 0.438000 T ERG prostate 5 104 0 0 0.000602 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11855295 11855295 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:11855295G>A ENST00000396516.2 - 18 2483 c.2286C>T c.(2284-2286)ctC>ctT p.L762L ZC3H7A_ENST00000355758.4_Silent_p.L762L Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 762 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TCTTTGTGGGGAGAGGACGGA 0.363000 14 139 0 0 0.003163 0 0 OR4K13 390433 broad.mit.edu 37 14 20502451 20502451 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:20502451G>A ENST00000315693.2 - 1 468 c.467C>T c.(466-468)tCa>tTa p.S156L NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TTGACTAGATGAGTGCACAAA 0.463000 13 98 0 0 0.001368 0 0 POM121C 100101267 broad.mit.edu 37 7 75070235 75070235 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:75070235C>G ENST00000453279.2 - 5 1088 c.224G>C c.(223-225)aGa>aCa p.R75T POM121C_ENST00000257665.5_Missense_Mutation_p.R317T NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 317 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CTGTTACCTTCTTTTATTTTC 0.468000 9 261 0 0 0.006122 0 0 TMEM256-PLSCR3 100529211 broad.mit.edu 37 17 7306703 7306703 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:7306703C>G ENST00000573331.1 - 3 136 c.124G>C c.(124-126)Gac>Cac p.D42H TMEM256_ENST00000302422.3_Missense_Mutation_p.D42H|PLSCR3_ENST00000535512.1_5'UTR TTGGCCTTGTCAAACAGCTGT 0.522000 7 105 0 0 0.001984 0 0 OTOGL 283310 broad.mit.edu 37 12 80658986 80658986 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:80658986C>G ENST00000458043.2 + 19 2199 c.2193C>G c.(2191-2193)ttC>ttG p.F731L OTOGL_ENST00000547103.1_Missense_Mutation_p.F731L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGATTTCTTTCTGTGGTGAGT 0.418000 3 14 0 0 0.004672 0 0 CSRNP3 80034 broad.mit.edu 37 2 166532912 166532912 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:166532912G>A ENST00000314499.7 + 6 875 c.499G>A c.(499-501)Gag>Aag p.E167K CSRNP3_ENST00000409420.1_Missense_Mutation_p.E199K|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E167K NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 167 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GGACAACACAGAGGTAGATGA 0.428000 9 251 0 0 0.000978 0 0 SON 6651 broad.mit.edu 37 21 34923966 34923966 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr21:34923966C>G ENST00000356577.4 + 3 2904 c.2429C>G c.(2428-2430)tCc>tGc p.S810C SON_ENST00000381679.4_Missense_Mutation_p.S810C|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S810C|SON_ENST00000290239.6_Missense_Mutation_p.S810C NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 810 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GCAACCAGCTCCATGGACTCC 0.512000 9 207 0 0 0.006214 0 0 METTL14 57721 broad.mit.edu 37 4 119615608 119615608 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr4:119615608G>C ENST00000388822.4 + 6 597 c.430G>C c.(430-432)Gaa>Caa p.E144Q METTL14_ENST00000506780.1_Missense_Mutation_p.E106Q Q9HCE5 MTL14_HUMAN methyltransferase like 14 144 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 TGACAGATTTGAAGAATATCC 0.343000 6 36 0 0 0.003080 0 0 SPRR3 6707 broad.mit.edu 37 1 152975629 152975629 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:152975629G>T ENST00000331860.3 + 3 283 c.133G>T c.(133-135)Gtt>Ttt p.V45F SPRR3_ENST00000542696.1_Missense_Mutation_p.V45F|SPRR3_ENST00000295367.4_Missense_Mutation_p.V45F NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 45 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACTCAAAGGTTCCACAACC 0.557000 7 34 8.12818e-05 0.000107688 0.001984 1 0 ZSCAN29 146050 broad.mit.edu 37 15 43658395 43658395 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:43658395G>C ENST00000396976.2 - 3 1269 c.1135C>G c.(1135-1137)Cag>Gag p.Q379E ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Q378E|ZSCAN29_ENST00000568898.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 379 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) TCAGACTCCTGAGCCACAGCC 0.587000 4 70 0 0 0.000248 0 0 RAPH1 65059 broad.mit.edu 37 2 204304406 204304406 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:204304406G>C ENST00000319170.5 - 14 3806 c.3507C>G c.(3505-3507)ctC>ctG p.L1169L RAPH1_ENST00000374493.3_Silent_p.L1221L|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 1169 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTCCTGTTGAGGTCAGCCA 0.552000 5 53 0 0 0.001168 0 0 STAB1 23166 broad.mit.edu 37 3 52556687 52556687 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:52556687C>G ENST00000321725.6 + 61 6803 c.6727C>G c.(6727-6729)Ctc>Gtc p.L2243V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2243 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATTCCCTCAGCTCTCTGCTGC 0.602000 19 62 0 0 0.007413 0 0 C1orf173 127254 broad.mit.edu 37 1 75055630 75055630 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:75055630G>C ENST00000326665.5 - 12 2079 c.1861C>G c.(1861-1863)Cag>Gag p.Q621E C1orf173_ENST00000420661.2_Missense_Mutation_p.Q424E|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 621 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 CTCAGTTCCTGAGAAGATGAC 0.433000 5 56 0 0 0.000602 0 0 HERPUD1 9709 broad.mit.edu 37 16 56974113 56974113 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:56974113G>A ENST00000439977.2 + 6 1058 c.861G>A c.(859-861)ctG>ctA p.L287L HERPUD1_ENST00000379792.2_Silent_p.L262L|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Silent_p.L286L NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 287 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 ACTCCTCCCTGAGCAGATTCC 0.413000 T ERG prostate 5 103 0 0 0.001168 0 0 NR4A1 3164 broad.mit.edu 37 12 52449825 52449825 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:52449825G>A ENST00000545748.1 + 4 2045 c.1050G>A c.(1048-1050)caG>caA p.Q350Q NR4A1_ENST00000360284.3_Silent_p.Q309Q|NR4A1_ENST00000550082.1_Silent_p.Q309Q|NR4A1_ENST00000394824.2_Silent_p.Q296Q|NR4A1_ENST00000394825.1_Silent_p.Q296Q|NR4A1_ENST00000243050.1_Silent_p.Q296Q P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 296 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GCACAGTGCAGAAAAACGCCA 0.627000 7 47 0 0 0.001984 0 0 SAT1 6303 broad.mit.edu 37 X 23803528 23803528 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:23803528G>A ENST00000379270.4 + 4 465 c.286G>A c.(286-288)Gtg>Atg p.V96M SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.V68M NM_002970.2 NP_002961.1 P21673 SAT1_HUMAN spermidine/spermine N1-acetyltransferase 1 96 Acetyl-CoA binding.|N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(3)|lung(3) 10 Spermine(DB00127) GGACTTCTTCGTGATGAGTGA 0.383000 6 121 0 0 0.001168 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960293 73960293 + Missense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:73960293G>T ENST00000373468.1 - 3 4750 c.4099C>A c.(4099-4101)Ctc>Atc p.L1367I KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1367I Q5QGS0 K2022_HUMAN KIAA2022 1367 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AATATTTTGAGGGTTTTTAAT 0.473000 5 64 0.000602214 0.000787859 0.000602 1 0 PEX6 5190 broad.mit.edu 37 6 42932587 42932587 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:42932587G>C ENST00000304611.8 - 16 2816 c.2747C>G c.(2746-2748)tCt>tGt p.S916C PEX6_ENST00000244546.4_3'UTR NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 916 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) AGAGCAGAGAGAGTAGAGGTC 0.552000 7 81 0 0 0.001984 0 0 TSC22D2 9819 broad.mit.edu 37 3 150127774 150127774 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:150127774G>A ENST00000361875.2 + 1 1653 c.637G>A c.(637-639)Gag>Aag p.E213K TSC22D2_ENST00000361136.2_Missense_Mutation_p.E213K NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 213 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCAGACTGCGGAGCGGGACAG 0.602000 11 88 0 0 0.000978 0 0 INSR 3643 broad.mit.edu 37 19 7132214 7132214 + Missense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:7132214T>A ENST00000341500.5 - 13 2800 c.2761A>T c.(2761-2763)Aac>Tac p.N921Y INSR_ENST00000302850.5_Missense_Mutation_p.N933Y NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 933 Fibronectin type-III 3. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGAGCCGTTGCCCGCAAGG 0.612000 6 29 0 0 0.001168 0 0 EIF6 3692 broad.mit.edu 37 20 33872280 33872280 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:33872280C>G ENST00000374450.3 - 2 275 c.11G>C c.(10-12)cGa>cCa p.R4P EIF6_ENST00000374443.3_Missense_Mutation_p.R4P|EIF6_ENST00000374436.3_Missense_Mutation_p.R4P|EIF6_ENST00000462894.1_5'UTR NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 4 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAACGAAGCTCGGACCGCCAT 0.632000 16 106 0 0 0.004990 0 0 LTBP1 4052 broad.mit.edu 37 2 33335736 33335736 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:33335736G>C ENST00000404816.2 + 4 1304 c.951G>C c.(949-951)caG>caC p.Q317H LTBP1_ENST00000354476.3_Missense_Mutation_p.Q317H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 317 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTCCAGCCCAGAAGGGGATTT 0.488000 4 95 0 0 0.000248 0 0 CD163L1 283316 broad.mit.edu 37 12 7556377 7556377 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:7556377C>G ENST00000313599.3 - 6 1219 c.1162G>C c.(1162-1164)Gaa>Caa p.E388Q CD163L1_ENST00000416109.2_Missense_Mutation_p.E398Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E388Q Q9NR16 C163B_HUMAN CD163 molecule-like 1 388 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACCACTGTTCATGAATTCTC 0.468000 3 84 0 0 0.004672 0 0 GSDMC 56169 broad.mit.edu 37 8 130764991 130764991 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:130764991G>C ENST00000276708.4 - 7 1678 c.797C>G c.(796-798)tCt>tGt p.S266C NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 266 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 gagggttggagagatggtatg 0.428000 5 87 0 0 0.001168 0 0 SPTA1 6708 broad.mit.edu 37 1 158632572 158632572 + Missense_Mutation SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:158632572A>T ENST00000368148.3 - 17 2564 c.2384T>A c.(2383-2385)cTg>cAg p.L795Q SPTA1_ENST00000368147.3_Missense_Mutation_p.L795Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 795 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AATCAGCTGCAGATGGAGAAG 0.507000 7 47 0 0 0.001984 0 0 MED1 5469 broad.mit.edu 37 17 37566260 37566260 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:37566260G>A ENST00000300651.6 - 17 2437 c.2214C>T c.(2212-2214)atC>atT p.I738I MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 738 Interaction with ESR1.|Interaction with VDR. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GAGCTGGAGTGATGTGTGGCG 0.488000 HNSCC(31;0.082) 5 65 0 0 0.000602 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79733151 79733151 + Nonsense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:79733151C>G ENST00000338008.5 + 3 827 c.647C>G c.(646-648)tCa>tGa p.S216* ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.S216*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.S216* NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 216 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) ACAACACTTTCAGATTCCTAT 0.294000 6 18 0 0 0.001168 0 0 ARAP3 64411 broad.mit.edu 37 5 141041628 141041628 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:141041628G>A ENST00000239440.4 - 20 3060 c.2995C>T c.(2995-2997)Cgc>Tgc p.R999C ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.R661C|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 999 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCCCTCCAGCGAGGCAGCAAC 0.587000 6 77 0 0 0.003080 0 0 OR2M4 26245 broad.mit.edu 37 1 248402784 248402784 + Nonsense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:248402784T>A ENST00000306687.1 + 1 554 c.554T>A c.(553-555)tTa>tAa p.L185* NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTGCCCTTTTACCTCTATCC 0.403000 15 88 0 0 0.003163 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102513595 102513595 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:102513595G>A ENST00000321521.9 + 23 3241 c.2668G>A c.(2668-2670)Gaa>Aaa p.E890K PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E890K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E890K O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 890 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTTTCATGTTGAATTACACTT 0.373000 4 27 0 0 0.000248 0 0 PAK1 5058 broad.mit.edu 37 11 77051807 77051807 + Splice_Site SNP A A C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:77051807A>C ENST00000356341.3 - 11 1531 c.998_splice c.e11-1 p.Y334_splice PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Splice_Site_p.Y334_splice|PAK1_ENST00000530617.1_Splice_Site_p.Y334_splice|PAK1_ENST00000528203.1_Splice_Site_p.Y236_splice NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 334 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) CCCACGAGGTAACTGCAGGAA 0.463000 15 136 0 0 0.002450 0 0 MYO1C 4641 broad.mit.edu 37 17 1371352 1371352 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:1371352G>A ENST00000359786.5 - 28 3150 c.2826C>T c.(2824-2826)ctC>ctT p.L942L MYO1C_ENST00000545534.2_Silent_p.L918L|MYO1C_ENST00000438665.2_Silent_p.L923L|MYO1C_ENST00000361007.2_Silent_p.L907L|MYO1C_ENST00000575158.1_Silent_p.L907L NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 942 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGTTGGGCGTGAGCAGCAGCT 0.637000 6 42 0 0 0.001168 0 0 MED12 9968 broad.mit.edu 37 X 70357597 70357597 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:70357597C>T ENST00000333646.6 + 41 6056 c.5857C>T c.(5857-5859)Cat>Tat p.H1953Y MED12_ENST00000374102.1_Missense_Mutation_p.H1949Y|MED12_ENST00000374080.3_Missense_Mutation_p.H1950Y|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1950 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TTATGTTTCTCATGTGGGATT 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 6 51 0 0 0.001168 0 0 LRP4 4038 broad.mit.edu 37 11 46898190 46898190 + Splice_Site SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:46898190T>A ENST00000378623.1 - 25 3607 c.e25-2 NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCTGTAGCCCTGTGGGAAGTC 0.552000 10 62 0 0 0.006214 0 0 PRR5L 79899 broad.mit.edu 37 11 36458958 36458958 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:36458958G>C ENST00000378867.3 + 7 731 c.376G>C c.(376-378)Gct>Cct p.A126P PRR5L_ENST00000530639.1_Missense_Mutation_p.A126P|PRR5L_ENST00000527487.1_Missense_Mutation_p.A126P|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A100P NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 126 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 TGAGGTTCTGGCTGAAGTCTG 0.478000 19 141 0 0 0.001882 0 0 LGR5 8549 broad.mit.edu 37 12 71978235 71978235 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:71978235C>G ENST00000266674.5 + 18 2756 c.2445C>G c.(2443-2445)ctC>ctG p.L815L LGR5_ENST00000540815.2_Silent_p.L791L|LGR5_ENST00000536515.1_Silent_p.L743L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 815 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTGCATGTCTCAATCCCCTTC 0.423000 6 63 0 0 0.001168 0 0 HLA-C 3107 broad.mit.edu 37 6 31237136 31237136 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:31237136C>T ENST00000383329.3 - 7 1107 c.1093G>A c.(1093-1095)Gag>Aag p.E365K HLA-C_ENST00000376228.5_Missense_Mutation_p.E359K Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 359 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 ATGAGAGACTCATCAGAGCCC 0.527000 4 31 0 0 0.001984 0 0 TRANK1 9881 broad.mit.edu 37 3 36873842 36873842 + Missense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:36873842T>A ENST00000301807.6 - 21 7347 c.5450A>T c.(5449-5451)gAg>gTg p.E1817V TRANK1_ENST00000429976.2_Missense_Mutation_p.E2367V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1817V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2367 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AATGCAATTCTCCAGAAGCCG 0.448000 11 62 0 0 0.008291 0 0 HSPA4 3308 broad.mit.edu 37 5 132409787 132409787 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:132409787C>T ENST00000304858.2 + 6 921 c.632C>T c.(631-633)tCt>tTt p.S211F NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 211 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TATCAAGTTTCTGTATGTGCA 0.338000 3 31 0 0 0.000248 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45131874 45131874 + RNA SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:45131874C>G ENST00000575173.1 - 0 418 CATTGTTATTCTTATCCCAGG 0.512000 7 93 0 0 0.001984 0 0 MIS12 79003 broad.mit.edu 37 17 5392495 5392495 + Missense_Mutation SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:5392495A>G ENST00000381165.3 + 3 866 c.313A>G c.(313-315)Aag>Gag p.K105E MIS12_ENST00000573759.1_Missense_Mutation_p.K105E NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2 NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1 Q9H081 MIS12_HUMAN MIS12 kinetochore complex component 105 cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2) 12 AGATAAATGTAAGGAGACACC 0.373000 6 32 0 0 0.001168 0 0 ABCA12 26154 broad.mit.edu 37 2 215865683 215865683 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:215865683G>C ENST00000272895.7 - 22 3144 c.2925C>G c.(2923-2925)gtC>gtG p.V975V ABCA12_ENST00000389661.4_Silent_p.V657V NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 975 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAGGAAGAAAGACATTTCCAG 0.423000 11 61 0 0 0.008291 0 0 FNDC3B 64778 broad.mit.edu 37 3 172052736 172052736 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:172052736G>A ENST00000336824.4 + 15 1743 c.1644G>A c.(1642-1644)ctG>ctA p.L548L FNDC3B_ENST00000415807.2_Silent_p.L548L|FNDC3B_ENST00000416957.1_Silent_p.L548L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 548 Fibronectin type-III 3. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGTTCTAGCTGACTGCTTCTA 0.423000 10 91 0 0 0.008291 0 0 APOA4 337 broad.mit.edu 37 11 116692408 116692408 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:116692408C>T ENST00000357780.3 - 3 480 c.366G>A c.(364-366)caG>caA p.Q122Q NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ccccgatcttctggctcacct 0.662000 3 11 0 0 0.004672 0 0 TULP1 7287 broad.mit.edu 37 6 35477054 35477054 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:35477054C>T ENST00000229771.6 - 8 833 c.754G>A c.(754-756)Gag>Aag p.E252K TULP1_ENST00000322263.4_Missense_Mutation_p.E199K NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 252 Poly-Glu. dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GCCTCCTCCTCCTCTTCTTCC 0.562000 9 225 0 0 0.008291 0 0 ICAM1 3383 broad.mit.edu 37 19 10395858 10395858 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:10395858C>T ENST00000264832.3 + 7 1819 c.1494C>T c.(1492-1494)ctC>ctT p.L498L ICAM1_ENST00000423829.2_Silent_p.L276L NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 498 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CTGCAGGCCTCAGCACGTACC 0.547000 5 35 0 0 0.000602 0 0 ATP10B 23120 broad.mit.edu 37 5 160047603 160047603 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:160047603C>G ENST00000327245.5 - 15 3013 c.2167G>C c.(2167-2169)Gat>Cat p.D723H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 723 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCGGCCTCATCAGGGCTCTCA 0.642000 4 36 0 0 0.000248 0 0 HMGCS2 3158 broad.mit.edu 37 1 120298086 120298086 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:120298086G>A ENST00000369406.3 - 6 1200 c.1151C>T c.(1150-1152)tCa>tTa p.S384L HMGCS2_ENST00000544913.2_Missense_Mutation_p.S342L NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 384 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GTACAGGGATGAGGTGTACAT 0.562000 10 291 0 0 0.006214 0 0 PRKAG2 51422 broad.mit.edu 37 7 151478307 151478307 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:151478307C>G ENST00000287878.4 - 3 901 c.397G>C c.(397-399)Gag>Cag p.E133Q PRKAG2_ENST00000392801.2_Missense_Mutation_p.E89Q|PRKAG2_ENST00000461529.1_5'UTR NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 133 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GGGGAAGACTCTTTGGAGGAG 0.582000 4 96 0 0 0.000248 0 0 ATP12A 479 broad.mit.edu 37 13 25264599 25264599 + Nonsense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr13:25264599C>T ENST00000218548.6 + 6 1003 c.670C>T c.(670-672)Cag>Tag p.Q224* ATP12A_ENST00000381946.3_Nonsense_Mutation_p.Q224* NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 224 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCTGTCTTCTCAGGGGTGTCG 0.572000 12 51 0 0 0.001855 0 0 EXOSC4 54512 broad.mit.edu 37 8 145134932 145134932 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:145134932C>T ENST00000316052.5 + 2 361 c.258C>T c.(256-258)cgC>cgT p.R86R EXOSC4_ENST00000525936.1_Intron NM_019037.2 NP_061910.1 Q9NPD3 EXOS4_HUMAN exosome component 4 86 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding lung(4)|prostate(1)|upper_aerodigestive_tract(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGTGAGCGCAAGCGACGGC 0.627000 14 81 0 0 0.001855 0 0 NBPF12 149013 broad.mit.edu 37 1 146397454 146397454 + Nonsense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:146397454G>T ENST00000442909.2 + 6 1107 c.271G>T c.(271-273)Gag>Tag p.E91* NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Nonsense_Mutation_p.E91* neuroblastoma breakpoint family, member 12 ovary(2) 2 ACAAGCTGAGGAGCTCAGGTG 0.532000 19 166 1.96292e-10 2.74704e-10 0.001523 1 0 HIVEP1 3096 broad.mit.edu 37 6 12124299 12124299 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:12124299G>C ENST00000379388.2 + 4 4603 c.4271G>C c.(4270-4272)aGa>aCa p.R1424T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1424 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTCTTAGAAAGAAGGAGAGGC 0.498000 7 91 0 0 0.001984 0 0 GSE1 23199 broad.mit.edu 37 16 85690992 85690992 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:85690992C>T ENST00000253458.7 + 8 1598 c.1422C>T c.(1420-1422)atC>atT p.I474I GSE1_ENST00000405402.2_Silent_p.I370I|GSE1_ENST00000393243.1_Silent_p.I401I NM_014615.2 NP_055430.1 Gse1 coiled-coil protein ACCATGGCATCTTCTCTCTGC 0.667000 3 33 0 0 0.004672 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905125 1905125 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:1905125G>A ENST00000518288.1 + 30 3966 c.3803G>A c.(3802-3804)gGa>gAa p.G1268E ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G1244E|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G1269E|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G1240E|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G1206E O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1269 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ATCTGGTTGGGAGATTCGCTG 0.592000 11 83 0 0 0.000978 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962796 73962796 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:73962796G>C ENST00000373468.1 - 3 2247 c.1596C>G c.(1594-1596)acC>acG p.T532T KIAA2022_ENST00000055682.5_Silent_p.T532T Q5QGS0 K2022_HUMAN KIAA2022 532 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GCTCCTTACGGGTTACTTTTC 0.418000 7 47 0 0 0.001984 0 0 UBA2 10054 broad.mit.edu 37 19 34955028 34955028 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:34955028C>G ENST00000439527.2 + 15 1806 c.1308C>G c.(1306-1308)atC>atG p.I436M UBA2_ENST00000246548.4_Missense_Mutation_p.I532M|UBA2_ENST00000592791.1_Missense_Mutation_p.I58M Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 532 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGATCAACATCCTTCATAGGT 0.313000 4 40 0 0 0.000248 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1628979 1628979 + Missense_Mutation SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:1628979A>T ENST00000399685.1 - 1 714 c.637T>A c.(637-639)Tgc>Agc p.C213S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 213 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) gactggcagcaggatgaccca 0.607000 26 159 0 0 0.004656 0 0 KRT27 342574 broad.mit.edu 37 17 38935988 38935988 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:38935988C>G ENST00000301656.3 - 4 850 c.810G>C c.(808-810)caG>caC p.Q270H NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 270 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) CCCTGCGGTTCTGCTCTGCGA 0.647000 7 15 0 0 0.003080 0 0 ZNF175 7728 broad.mit.edu 37 19 52090721 52090721 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:52090721C>T ENST00000262259.2 + 5 1495 c.1137C>T c.(1135-1137)ttC>ttT p.F379F ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 379 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) TATCTCTCTTCAGACATCAGA 0.398000 10 59 0 0 0.006214 0 0 NAV3 89795 broad.mit.edu 37 12 78570980 78570980 + Silent SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:78570980A>G ENST00000397909.2 + 27 5357 c.5184A>G c.(5182-5184)tcA>tcG p.S1728S NAV3_ENST00000536525.2_Silent_p.S1728S|NAV3_ENST00000228327.6_Silent_p.S1728S|NAV3_ENST00000266692.7_Silent_p.S1551S Q8IVL0 NAV3_HUMAN neuron navigator 3 1728 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 CTCCTTCATCACATTCTGACA 0.463000 HNSCC(70;0.22) 5 65 0 0 0.000602 0 0 DNAH6 1768 broad.mit.edu 37 2 84806723 84806723 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:84806723G>A ENST00000389394.3 + 14 2286 c.2149G>A c.(2149-2151)Gag>Aag p.E717K DNAH6_ENST00000237449.6_Missense_Mutation_p.E717K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E717K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 717 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 ACAAGATGCAGAGTATAAACT 0.353000 3 39 0 0 0.000248 0 0 MIER3 166968 broad.mit.edu 37 5 56224647 56224647 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:56224647C>G ENST00000381226.3 - 10 901 c.886G>C c.(886-888)Gaa>Caa p.E296Q MIER3_ENST00000381213.3_Missense_Mutation_p.E290Q|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.E228Q|MIER3_ENST00000381199.3_Missense_Mutation_p.E291Q Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 291 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) AGTGCATGTTCAAAGCTTCGG 0.328000 6 37 0 0 0.001168 0 0 YWHAQ 10971 broad.mit.edu 37 2 9770412 9770412 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:9770412G>A ENST00000381844.4 - 1 333 c.170C>T c.(169-171)tCc>tTc p.S57F YWHAQ_ENST00000238081.3_Missense_Mutation_p.S57F P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 57 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CCTCCAGGCGGACCTGCGGCC 0.607000 7 63 0 0 0.003080 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222269 91222269 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:91222269C>T ENST00000371790.4 - 3 367 c.67G>A c.(67-69)Gga>Aga p.G23R SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 0 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TCTTCTTTTCCAGGTTGCTCC 0.488000 7 32 0 0 0.001984 0 0 HK2 3099 broad.mit.edu 37 2 75113751 75113751 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:75113751G>A ENST00000290573.2 + 15 2770 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K HK2_ENST00000409174.1_Missense_Mutation_p.E696K NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 724 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CTTCCGCACAGAATTTGATGT 0.562000 8 64 0 0 0.008291 0 0 STAU1 6780 broad.mit.edu 37 20 47734482 47734482 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:47734482G>C ENST00000371828.3 - 11 1603 c.1116C>G c.(1114-1116)gcC>gcG p.A372A STAU1_ENST00000371792.1_Silent_p.A364A|STAU1_ENST00000347458.5_Silent_p.A366A|STAU1_ENST00000371856.2_Silent_p.A447A|STAU1_ENST00000360426.4_Silent_p.A366A|STAU1_ENST00000371802.1_Silent_p.A372A|STAU1_ENST00000340954.7_Silent_p.A366A NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 447 QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2). microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CCGTGGCCTTGGCAGGATTCG 0.542000 6 129 0 0 0.001168 0 0 DGKK 139189 broad.mit.edu 37 X 50213528 50213528 + RNA SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:50213528C>T ENST00000376025.2 - 0 209 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGGGTTCTGGCGAAGCCTCGG 0.682000 10 65 0 0 0.006214 0 0 USP25 29761 broad.mit.edu 37 21 17191058 17191058 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr21:17191058C>T ENST00000285681.2 + 10 1342 c.973C>T c.(973-975)Ctt>Ttt p.L325F USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.L325F|USP25_ENST00000285679.6_Missense_Mutation_p.L325F Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 325 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TCAGTACCCACTTCAGGTCAA 0.358000 4 70 0 0 0.000248 0 0 THBS2 7058 broad.mit.edu 37 6 169634857 169634857 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:169634857C>G ENST00000366787.3 - 11 1872 c.1623G>C c.(1621-1623)caG>caC p.Q541H XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 541 TSP type-1 3. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TGTTGCACATCTGACGCTCCT 0.627000 6 38 0 0 0.001984 0 0 POU6F1 5463 broad.mit.edu 37 12 51585530 51585530 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:51585530G>A ENST00000389243.4 - 10 1348 c.409C>T c.(409-411)Ctg>Ttg p.L137L POU6F1_ENST00000333640.10_Silent_p.L137L|POU6F1_ENST00000550824.1_Silent_p.L137L Q14863 PO6F1_HUMAN POU class 6 homeobox 1 137 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TCCTCATCCAGACTTGGAGTA 0.542000 9 82 0 0 0.000978 0 0 ABHD2 11057 broad.mit.edu 37 15 89698596 89698596 + Splice_Site SNP A A T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:89698596A>T ENST00000352732.5 + 5 890 c.e5-1 ABHD2_ENST00000355100.3_Splice_Site|ABHD2_ENST00000565973.1_Splice_Site NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TCTACGCTATAGATGATATCA 0.428000 11 51 0 0 0.000978 0 0 DBF4 10926 broad.mit.edu 37 7 87516174 87516174 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:87516174G>A ENST00000265728.1 + 4 919 c.415G>A c.(415-417)Gga>Aga p.G139R NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 139 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTTAAGCAGAGGAAAATTATT 0.299000 7 75 0 0 0.001984 0 0 MAP7D3 79649 broad.mit.edu 37 X 135326890 135326890 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:135326890C>A ENST00000316077.9 - 4 538 c.318G>T c.(316-318)atG>atT p.M106I MAP7D3_ENST00000370661.1_Missense_Mutation_p.M106I|MAP7D3_ENST00000370663.5_Missense_Mutation_p.M88I NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 106 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) GTCTTTCCTCCATCTGTTTTT 0.373000 15 71 1.05317e-09 1.45824e-09 0.002450 1 0 RGAG1 57529 broad.mit.edu 37 X 109695254 109695254 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:109695254C>A ENST00000465301.2 + 3 1655 c.1409C>A c.(1408-1410)gCc>gAc p.A470D RGAG1_ENST00000540313.1_Missense_Mutation_p.A470D NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 470 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TTAACAATGGCCAAAACTTCT 0.507000 20 143 8.00594e-06 1.07432e-05 0.007413 1 0 FLII 2314 broad.mit.edu 37 17 18150355 18150355 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:18150355C>T ENST00000327031.4 - 22 2913 c.2688G>A c.(2686-2688)ctG>ctA p.L896L FLII_ENST00000545457.2_Silent_p.L841L|FLII_ENST00000379450.4_Silent_p.L810L|FLII_ENST00000579294.1_Silent_p.L885L|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 896 Glu-rich. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) ACTCCTCCATCAGCTGCTCCG 0.682000 5 46 0 0 0.001168 0 0 EML1 2009 broad.mit.edu 37 14 100363537 100363537 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:100363537G>C ENST00000262233.6 + 7 872 c.733G>C c.(733-735)Gag>Cag p.E245Q EML1_ENST00000327921.9_Missense_Mutation_p.E233Q|EML1_ENST00000334192.4_Missense_Mutation_p.E264Q NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 245 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCCGACGGGAGAGACCGTCTA 0.488000 6 42 0 0 0.004482 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 7 41 0 0 0.001984 0 0 OR8J3 81168 broad.mit.edu 37 11 55904331 55904331 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr11:55904331C>T ENST00000301529.1 - 1 863 c.864G>A c.(862-864)ttG>ttA p.L288L NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GGCTGTAGATCAAGGGATTCA 0.358000 5 78 0 0 0.001168 0 0 C12orf44 60673 broad.mit.edu 37 12 52470568 52470568 + Splice_Site SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:52470568A>G ENST00000336854.4 + 4 730 c.e4-1 NM_001098673.1|NM_021934.4 NP_001092143.1|NP_068753.2 Q9BSB4 ATGA1_HUMAN chromosome 12 open reading frame 44 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding endometrium(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(357;0.0978) CCTTCTTCCCAGGATGCACTG 0.562000 4 40 0 0 0.001168 0 0 ANKRD22 118932 broad.mit.edu 37 10 90583087 90583087 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:90583087G>A ENST00000371930.4 - 5 658 c.448C>T c.(448-450)Ctt>Ttt p.L150F ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 150 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AGAGGGATAAGAGACTGGTTT 0.498000 11 105 0 0 0.000978 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960017 117960017 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:117960017C>G ENST00000310164.2 + 4 1317 c.810C>G c.(808-810)ctC>ctG p.L270L NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ATGATACCCTCGACGACTCCG 0.582000 9 56 0 0 0.004482 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208693066 208693066 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:208693066C>G ENST00000427836.2 - 8 2752 c.2263G>C c.(2263-2265)Gag>Cag p.E755Q NM_001080475.2 NP_001073944.1 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 755 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAGGACAGCTCGAACATGGTG 0.562000 9 102 0 0 0.000978 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138327 126138327 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:126138327C>A ENST00000299308.3 + 9 2316 c.2308C>A c.(2308-2310)Cag>Aag p.Q770K TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q282K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 770 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGAACCTTGTCAGAAGACCAA 0.448000 16 80 6.31663e-08 8.67705e-08 0.003163 1 0 RAET1K 646024 broad.mit.edu 37 6 150321245 150321245 + RNA SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:150321245G>T ENST00000533735.1 - 0 973 NR_024045.1 GGAGGATAAAGCAGAGGATGA 0.552000 5 23 0.00116845 0.00151347 0.001168 1 0 MED12 9968 broad.mit.edu 37 X 70342101 70342101 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:70342101G>A ENST00000333646.6 + 8 1352 c.1153G>A c.(1153-1155)Gat>Aat p.D385N MED12_ENST00000374102.1_Missense_Mutation_p.D385N|MED12_ENST00000374080.3_Missense_Mutation_p.D385N NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 385 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTCACTGACTGATAGCAGAAT 0.517000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 6 129 0 0 0.003080 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587203 111587203 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:111587203G>C ENST00000368847.4 + 4 791 c.438G>C c.(436-438)ccG>ccC p.P146P NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 146 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) CTTTGGGTCCGACAGCGTCTG 0.498000 6 37 0 0 0.001168 0 0 AKAP13 11214 broad.mit.edu 37 15 86122892 86122892 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:86122892C>T ENST00000394518.2 + 7 1688 c.1593C>T c.(1591-1593)atC>atT p.I531I RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.I531I NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 531 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGGATAAAATCAGTGTTCCAA 0.453000 8 102 0 0 0.006214 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27937724 27937724 + Nonsense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:27937724G>T ENST00000394859.3 + 8 998 c.844G>T c.(844-846)Gag>Tag p.E282* RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 282 cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 ATCTAACGTGGAGCTCATCAC 0.532000 5 29 1.23904e-05 1.65841e-05 0.000602 1 0 MYO7B 4648 broad.mit.edu 37 2 128377933 128377933 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:128377933G>C ENST00000389524.4 + 26 3392 c.3339G>C c.(3337-3339)caG>caC p.Q1113H MYO7B_ENST00000409090.1_5'UTR|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1113H|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1113H Q6PIF6 MYO7B_HUMAN myosin VIIB 1113 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TTTACTGCCAGATCTGCAAGC 0.587000 3 78 0 0 0.000602 0 0 CDH6 1004 broad.mit.edu 37 5 31267595 31267595 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:31267595C>T ENST00000265071.2 + 2 280 c.15C>T c.(13-15)cgC>cgT p.R5R CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 5 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GAACTTACCGCTACTTCTTGC 0.532000 4 60 0 0 0.000602 0 0 DMTF1 9988 broad.mit.edu 37 7 86808996 86808996 + Translation_Start_Site SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:86808996G>A ENST00000414194.2 + 0 1477 DMTF1_ENST00000411766.2_Missense_Mutation_p.D178N|DMTF1_ENST00000413276.2_Missense_Mutation_p.D219N|DMTF1_ENST00000394703.5_Missense_Mutation_p.D219N|DMTF1_ENST00000394702.3_Missense_Mutation_p.D219N|DMTF1_ENST00000331242.7_Missense_Mutation_p.D219N|DMTF1_ENST00000432937.2_Missense_Mutation_p.D131N Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) TCGCATGTATGATGACAGAAA 0.373000 5 67 0 0 0.000602 0 0 ZNF320 162967 broad.mit.edu 37 19 53384850 53384850 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:53384850C>G ENST00000595635.1 - 8 1030 c.529G>C c.(529-531)Gaa>Caa p.E177Q ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E177Q|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) CTATGTATTTCAAGATGTGAT 0.348000 5 39 0 0 0.001168 0 0 AMD1 262 broad.mit.edu 37 6 111214205 111214205 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:111214205G>C ENST00000368885.3 + 8 1137 c.801G>C c.(799-801)ctG>ctC p.L267L AMD1_ENST00000451850.2_Silent_p.L147L|AMD1_ENST00000368882.3_Silent_p.L119L|AMD1_ENST00000368876.1_Silent_p.L198L|AMD1_ENST00000368877.5_Silent_p.L238L NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 267 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) ATGATGACCTGATCAGGAAAG 0.338000 8 69 0 0 0.003080 0 0 ZNF124 7678 broad.mit.edu 37 1 247319925 247319925 + Silent SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:247319925A>G ENST00000340684.6 - 4 951 c.813T>C c.(811-813)ctT>ctC p.L271L ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Silent_p.L333L|ZNF124_ENST00000472531.1_Intron NM_003431.2 NP_003422.2 Q15973 ZN124_HUMAN zinc finger protein 124 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TATGCTTCCAAAGGGTACTAG 0.378000 3 47 0 0 0.004672 0 0 SCAF1 58506 broad.mit.edu 37 19 50149374 50149374 + Missense_Mutation SNP G G A rs146838422 byFrequency TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:50149374G>A ENST00000360565.3 + 4 300 c.176G>A c.(175-177)cGg>cAg p.R59Q NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 59 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GATGGCTCTCGGTGTCATGGC 0.587000 8 34 0 0 0.004482 0 0 CYP2A13 1553 broad.mit.edu 37 19 41597723 41597723 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:41597723C>T ENST00000330436.3 + 5 741 c.741C>T c.(739-741)ttC>ttT p.F247F NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 247 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TGGAGGACTTCATCGCCAAGA 0.557000 12 42 0 0 0.000978 0 0 TCP1 6950 broad.mit.edu 37 6 160205867 160205867 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:160205867G>C ENST00000321394.7 - 6 781 c.501C>G c.(499-501)ttC>ttG p.F167L TCP1_ENST00000392168.2_Missense_Mutation_p.F12L|TCP1_ENST00000420894.2_Missense_Mutation_p.F167L|TCP1_ENST00000544255.1_Intron NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 167 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TGTTAGCAAAGAAATCACCAT 0.403000 3 53 0 0 0.004672 0 0 URB2 9816 broad.mit.edu 37 1 229771649 229771649 + Missense_Mutation SNP T T G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:229771649T>G ENST00000258243.2 + 4 1425 c.1289T>G c.(1288-1290)cTg>cGg p.L430R NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 430 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CTGGATGACCTGCTGGCTTCA 0.493000 3 76 0 0 0.000248 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365284 7365284 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:7365284C>G ENST00000311403.4 - 4 3356 c.3017G>C c.(3016-3018)aGa>aCa p.R1006T ZBTB4_ENST00000380599.4_Missense_Mutation_p.R1006T NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 1006 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CTTCTGGGTTCTCTCAACCCC 0.622000 5 59 0 0 0.000602 0 0 ZNF217 7764 broad.mit.edu 37 20 52198675 52198675 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:52198675G>C ENST00000371471.2 - 2 1116 c.691C>G c.(691-693)Cta>Gta p.L231V ZNF217_ENST00000302342.3_Missense_Mutation_p.L231V O75362 ZN217_HUMAN zinc finger protein 217 231 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TGCTCAATTAGACTTTCTTTA 0.517000 5 114 0 0 0.001168 0 0 COG8 84342 broad.mit.edu 37 16 69368499 69368499 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:69368499G>C ENST00000306875.4 - 3 1452 c.1338C>G c.(1336-1338)ttC>ttG p.F446L COG8_ENST00000562081.1_Missense_Mutation_p.F446L NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 446 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GCAGATCATTGAAGGCAACCA 0.592000 4 45 0 0 0.000248 0 0 GDF15 9518 broad.mit.edu 37 19 18499152 18499152 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:18499152G>A ENST00000595973.1 + 3 885 c.334G>A c.(334-336)Gag>Aag p.E112K GDF15_ENST00000252809.3_Missense_Mutation_p.E112K Q99988 GDF15_HUMAN growth differentiation factor 15 112 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CGCCCTTCCCGAGGGGCTCCC 0.697000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 47 0 0 0.000602 0 0 ZBTB48 3104 broad.mit.edu 37 1 6641229 6641229 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:6641229C>T ENST00000377674.4 + 2 718 c.560C>T c.(559-561)tCc>tTc p.S187F NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 187 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) GAGGGCCCCTCCTCCCTCTGT 0.602000 6 54 0 0 0.001984 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235704 102235704 + Nonsense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr13:102235704C>A ENST00000376180.3 + 6 1085 c.866C>A c.(865-867)tCa>tAa p.S289* ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.S196*|ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.S148* NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 289 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GACTTCTGTTCAGGTAAGGGC 0.433000 13 116 2.27111e-07 3.07927e-07 0.001368 1 0 RPL36AL 6166 broad.mit.edu 37 14 50085644 50085644 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:50085644G>C ENST00000298289.6 - 2 338 c.179C>G c.(178-180)gCt>gGt p.A60G NM_001001.4 NP_000992.1 Q969Q0 RL36L_HUMAN ribosomal protein L36a-like 60 translation ribosome structural constituent of ribosome all_epithelial(31;0.0021)|Breast(41;0.0124) TGTGGTCTTAGCCTTCTTCCG 0.483000 14 94 0 0 0.002450 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79968734 79968734 + Silent SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:79968734C>A ENST00000306729.7 + 10 1324 c.1227C>A c.(1225-1227)ccC>ccA p.P409P ASPSCR1_ENST00000306739.4_Silent_p.P409P|ASPSCR1_ENST00000580534.1_Silent_p.P332P NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 409 UBX. protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TCTTCCGCCCCAGCGAGACAG 0.692000 T TFE3 alveolar soft part sarcoma 6 58 0.00116845 0.00151347 0.001168 1 0 DHX34 9704 broad.mit.edu 37 19 47856643 47856643 + Missense_Mutation SNP A A G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:47856643A>G ENST00000328771.4 + 2 705 c.356A>G c.(355-357)cAg>cGg p.Q119R NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 119 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CGGGGCTCTCAGGGACTGGGC 0.637000 3 89 0 0 0.004672 0 0 ARPC1B 10095 broad.mit.edu 37 7 98987558 98987558 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:98987558C>G ENST00000451682.1 + 7 732 c.423C>G c.(421-423)atC>atG p.I141M ARPC1B_ENST00000252725.5_Missense_Mutation_p.I141M O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 141 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGAAGCCCATCCGCTCCACCG 0.627000 3 156 0 0 0.004672 0 0 RBM12B 389677 broad.mit.edu 37 8 94748573 94748573 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:94748573G>A ENST00000399300.2 - 3 279 c.66C>T c.(64-66)ttC>ttT p.F22F RBM12B_ENST00000517700.1_Silent_p.F22F|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 22 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ATCCCGTGAAGAAGTGACGAA 0.458000 7 61 0 0 0.003080 0 0 ADCY7 113 broad.mit.edu 37 16 50345660 50345660 + Missense_Mutation SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:50345660T>C ENST00000394697.2 + 20 2751 c.2411T>C c.(2410-2412)gTc>gCc p.V804A ADCY7_ENST00000254235.3_Missense_Mutation_p.V804A P51828 ADCY7_HUMAN adenylate cyclase 7 804 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TTCTACCTGGTCCTGTTCTAC 0.582000 21 112 0 0 0.001882 0 0 CABIN1 23523 broad.mit.edu 37 22 24509645 24509645 + Silent SNP G G A rs149239737 byFrequency TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:24509645G>A ENST00000398319.2 + 27 4615 c.4230G>A c.(4228-4230)aaG>aaA p.K1410K CABIN1_ENST00000263119.5_Silent_p.K1410K|CABIN1_ENST00000405822.2_Silent_p.K1331K NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1410 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACACAGAGAAGAGGCTGCCCA 0.517000 11 69 0 0 0.008291 0 0 CMTM5 116173 broad.mit.edu 37 14 23847574 23847574 + Missense_Mutation SNP T T A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:23847574T>A ENST00000359320.3 + 2 587 c.143T>A c.(142-144)aTc>aAc p.I48N CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.I48N|CMTM5_ENST00000339180.4_Missense_Mutation_p.I48N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 48 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) ACCCTCATCATCTTCATCTGC 0.592000 8 30 0 0 0.004482 0 0 ZFP42 132625 broad.mit.edu 37 4 188924516 188924516 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr4:188924516G>C ENST00000326866.4 + 4 963 c.555G>C c.(553-555)ctG>ctC p.L185L ZFP42_ENST00000509524.1_Silent_p.L185L NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 185 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ATGACAGTCTGAGCGCAATCG 0.488000 8 109 0 0 0.004482 0 0 LRRC41 10489 broad.mit.edu 37 1 46763294 46763294 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:46763294G>C ENST00000343304.6 - 3 583 c.298C>G c.(298-300)Cag>Gag p.Q100E LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 100 p.Q100*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CAGATGGCCTGAGTTGAGAGG 0.468000 9 69 0 0 0.008291 0 0 ASPM 259266 broad.mit.edu 37 1 197070190 197070190 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:197070190C>T ENST00000367409.4 - 18 8447 c.8191G>A c.(8191-8193)Gaa>Aaa p.E2731K ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2731 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTTTTTCTTTCTGTTTTTACT 0.318000 3 29 0 0 0.004672 0 0 SPATA22 84690 broad.mit.edu 37 17 3365780 3365780 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:3365780C>G ENST00000573128.1 - 5 809 c.326G>C c.(325-327)tGg>tCg p.W109S SPATA22_ENST00000541913.1_Missense_Mutation_p.W93S|SPATA22_ENST00000575375.1_Missense_Mutation_p.W109S|SPATA22_ENST00000397168.3_Missense_Mutation_p.W109S|SPATA22_ENST00000355380.4_Missense_Mutation_p.W66S|SPATA22_ENST00000572969.1_Missense_Mutation_p.W109S|SPATA22_ENST00000268981.5_Missense_Mutation_p.W109S Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 109 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 GACTCACCTCCAACCACCCTG 0.398000 11 66 0 0 0.000978 0 0 AGTR2 186 broad.mit.edu 37 X 115304085 115304085 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:115304085C>T ENST00000371906.4 + 3 742 c.552C>T c.(550-552)gtC>gtT p.V184V NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 184 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TTCGAGACGTCAGAACCATTG 0.413000 5 119 0 0 0.000602 0 0 DTWD2 285605 broad.mit.edu 37 5 118264410 118264410 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:118264410G>A ENST00000304058.4 - 4 291 c.221C>T c.(220-222)tCa>tTa p.S74L DTWD2_ENST00000510708.1_Missense_Mutation_p.S140L|DTWD2_ENST00000515439.3_Intron Q8NBA8 DTWD2_HUMAN DTW domain containing 2 140 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) GCAAACAGTTGAAAGTTCAGG 0.303000 8 82 0 0 0.003080 0 0 ATP9A 10079 broad.mit.edu 37 20 50273536 50273536 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:50273536C>T ENST00000338821.5 - 14 1711 c.1447G>A c.(1447-1449)Gag>Aag p.E483K ATP9A_ENST00000311637.5_Missense_Mutation_p.E347K|ATP9A_ENST00000402822.1_Missense_Mutation_p.E362K NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 483 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCTCGGCCTCAGCCTGATCA 0.627000 4 30 0 0 0.000602 0 0 DNAH8 1769 broad.mit.edu 37 6 38818042 38818042 + Nonsense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:38818042C>T ENST00000359357.3 + 36 4818 c.4564C>T c.(4564-4566)Cag>Tag p.Q1522* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q1522*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q1739* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAACGTTTTCAGAATATTGA 0.348000 4 54 0 0 0.000248 0 0 BEND2 139105 broad.mit.edu 37 X 18189251 18189251 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:18189251G>A ENST00000380033.4 - 13 2187 c.2055C>T c.(2053-2055)tgC>tgT p.C685C BEND2_ENST00000380030.3_Silent_p.C594C NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 685 BEN 2. p.C685C(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 ACAGGCTTGCGCAAGACTTAG 0.428000 6 99 0 0 0.001168 0 0 USP40 55230 broad.mit.edu 37 2 234465641 234465641 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:234465641C>G ENST00000251722.6 - 5 523 c.406G>C c.(406-408)Gaa>Caa p.E136Q USP40_ENST00000427112.2_Missense_Mutation_p.E136Q|USP40_ENST00000450966.1_Missense_Mutation_p.E148Q Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 136 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CGATTCAGTTCCTGCACATCA 0.388000 8 68 0 0 0.004482 0 0 CCDC39 339829 broad.mit.edu 37 3 180381717 180381717 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:180381717C>G ENST00000273654.4 - 8 1019 c.400G>C c.(400-402)Gag>Cag p.E134Q CCDC39_ENST00000442201.2_Missense_Mutation_p.E50Q Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 50 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTAATTCGCTCTTCATACTCA 0.328000 9 79 0 0 0.004482 0 0 CYP2E1 1571 broad.mit.edu 37 10 135341025 135341025 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:135341025C>G ENST00000463117.2 + 3 398 c.126C>G c.(124-126)atC>atG p.I42M CYP2E1_ENST00000252945.3_Missense_Mutation_p.I42M|AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 42 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TTCCCATCATCGGGAACCTCT 0.537000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 8 49 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 2855612 2855612 + Silent SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:2855612C>A ENST00000520002.1 - 55 8856 c.8301G>T c.(8299-8301)acG>acT p.T2767T CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000400186.3_Silent_p.T2709T|CSMD1_ENST00000537824.1_Silent_p.T2766T|CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000602557.1_Silent_p.T2767T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2767 Sushi 19. integral to membrane p.T2766T(1)|p.T2495T(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCAAATAGCCCGTGTTGCAGG 0.557000 11 59 2.80697e-09 3.8763e-09 0.000978 1 0 CUBN 8029 broad.mit.edu 37 10 16930444 16930444 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:16930444G>A ENST00000377833.4 - 56 8942 c.8877C>T c.(8875-8877)ctC>ctT p.L2959L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2959 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAAAGTCAAGAGGACCACTG 0.338000 3 34 0 0 0.004672 0 0 DHX36 170506 broad.mit.edu 37 3 154011591 154011591 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:154011591C>G ENST00000496811.1 - 14 1696 c.1616G>C c.(1615-1617)aGa>aCa p.R539T DHX36_ENST00000308361.6_Missense_Mutation_p.R539T|DHX36_ENST00000329463.5_Missense_Mutation_p.R525T|DHX36_ENST00000544526.1_Missense_Mutation_p.R525T NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 539 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R539I(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGGAGGGGTTCTTTTAAACAC 0.299000 8 55 0 0 0.006214 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668599 71668599 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:71668599G>C ENST00000268485.3 + 3 1143 c.1099G>C c.(1099-1101)Gct>Cct p.A367P MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 367 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TGGAATCTTTGCTGCCCTGGG 0.522000 7 46 0 0 0.004482 0 0 FOXA2 3170 broad.mit.edu 37 20 22563643 22563643 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:22563643C>T ENST00000419308.2 - 2 421 c.219G>A c.(217-219)atG>atA p.M73I FOXA2_ENST00000377115.4_Missense_Mutation_p.M73I|FOXA2_ENST00000319993.4_Missense_Mutation_p.M79I NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 73 Transactivation domain 1 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GGGACGGGCTCATGCCAGCGC 0.731000 4 47 0 0 0.000602 0 0 PAK2 5062 broad.mit.edu 37 3 196509565 196509565 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:196509565G>A ENST00000327134.3 + 2 370 c.48G>A c.(46-48)gtG>gtA p.V16V NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 16 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CACCTCCTGTGCGAATGAGCA 0.433000 14 141 0 0 0.002450 0 0 DNM1 1759 broad.mit.edu 37 9 130982538 130982538 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:130982538G>A ENST00000341179.7 + 6 859 c.767G>A c.(766-768)cGa>cAa p.R256Q DNM1_ENST00000486160.1_Missense_Mutation_p.R256Q|DNM1_ENST00000393594.3_Missense_Mutation_p.R256Q|DNM1_ENST00000372923.3_Missense_Mutation_p.R256Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R256Q NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 256 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.R256L(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCTGCTGAACGAAAGTTCTTC 0.547000 17 77 0 0 0.007413 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 12 59 0 0 0.003163 0 0 ROR2 4920 broad.mit.edu 37 9 94486104 94486104 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr9:94486104G>A ENST00000375708.3 - 9 2870 c.2672C>T c.(2671-2673)tCa>tTa p.S891L ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 891 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGCGCCCTCTGAGAGCAGGGC 0.632000 5 90 0 0 0.001168 0 0 ACIN1 22985 broad.mit.edu 37 14 23549045 23549045 + Missense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:23549045C>A ENST00000262710.1 - 6 2000 c.1673G>T c.(1672-1674)aGa>aTa p.R558I ACIN1_ENST00000555053.1_Missense_Mutation_p.R558I|ACIN1_ENST00000605057.1_Missense_Mutation_p.R500I|ACIN1_ENST00000457657.1_Missense_Mutation_p.R518I NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 558 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGAAGCTCTTCTGCCTTCCTT 0.478000 5 126 0.00116845 0.00151347 0.001168 1 0 RASSF1 11186 broad.mit.edu 37 3 50369288 50369288 + Splice_Site SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:50369288C>G ENST00000359365.4 - 4 569 c.e4-1 RASSF1_ENST00000327761.3_Splice_Site|RASSF1_ENST00000395126.3_Splice_Site|RASSF1_ENST00000357043.2_Splice_Site NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGTCCTTGTTCTAAAGAAATA 0.507000 4 31 0 0 0.000248 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958565 122958565 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:122958565C>T ENST00000543897.1 - 12 3244 c.889G>A c.(889-891)Gag>Aag p.E297K ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E535K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E146K|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E297K Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 535 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding p.E535K(1) endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTTACGCTCTCGGCCTGCTCA 0.547000 17 182 0 0 0.004990 0 0 FLII 2314 broad.mit.edu 37 17 18154698 18154698 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr17:18154698C>T ENST00000327031.4 - 13 1702 c.1477G>A c.(1477-1479)Gag>Aag p.E493K FLII_ENST00000545457.2_Missense_Mutation_p.E438K|FLII_ENST00000379450.4_Missense_Mutation_p.E407K|FLII_ENST00000579294.1_Missense_Mutation_p.E482K|FLII_ENST00000578558.1_Missense_Mutation_p.E492K NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 493 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) CCCACGTCCTCCGTGAAGAAC 0.652000 4 46 0 0 0.000248 0 0 ZNF138 7697 broad.mit.edu 37 7 64292443 64292443 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:64292443G>A ENST00000359735.3 + 4 999 c.652G>A c.(652-654)Gaa>Aaa p.E218K ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.E218K|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.E249K|ZNF138_ENST00000307355.7_Missense_Mutation_p.E275K|ZNF138_ENST00000437743.1_Missense_Mutation_p.E243K NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 249 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) AATTCATACTGAAGAGAAACC 0.378000 7 31 0 0 0.001984 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069364 6069364 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:6069364G>C ENST00000381095.3 - 2 771 c.144C>G c.(142-144)gtC>gtG p.V48V NLGN4X_ENST00000381092.1_Silent_p.V48V|NLGN4X_ENST00000275857.6_Silent_p.V48V|NLGN4X_ENST00000538097.1_Silent_p.V48V|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.V48V NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 48 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 breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AATTTGTGTTGACAACTGGAT 0.512000 3 82 0 0 0.004672 0 0 MIR758 768212 broad.mit.edu 37 14 101492438 101492438 + RNA SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:101492438C>G ENST00000390227.1 + 0 82 NR_030406.1 CCCTCAGTATCTAATGCCCCC 0.507000 5 106 0 0 0.001168 0 0 PLTP 5360 broad.mit.edu 37 20 44536380 44536380 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr20:44536380G>C ENST00000542937.1 - 6 1158 c.624C>G c.(622-624)ctC>ctG p.L208L PLTP_ENST00000420868.2_Silent_p.L93L|PLTP_ENST00000372420.1_Silent_p.L100L|PLTP_ENST00000372431.3_Silent_p.L188L|PLTP_ENST00000354050.4_Silent_p.L136L|PLTP_ENST00000477313.1_Silent_p.L188L P55058 PLTP_HUMAN phospholipid transfer protein 188 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) CTGCGTGGTAGAGGACAGGGC 0.637000 5 32 0 0 0.000602 0 0 DTNB 1838 broad.mit.edu 37 2 25606753 25606753 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:25606753C>T ENST00000406818.3 - 19 2080 c.1831G>A c.(1831-1833)Gaa>Aaa p.E611K DTNB_ENST00000288642.8_Missense_Mutation_p.E581K|DTNB_ENST00000407186.1_Missense_Mutation_p.E574K|DTNB_ENST00000545439.1_Missense_Mutation_p.E400K|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000404103.3_Missense_Mutation_p.E581K|DTNB_ENST00000405222.1_Missense_Mutation_p.E544K|DTNB_ENST00000407661.3_Intron|DTNB_ENST00000407038.3_Missense_Mutation_p.E551K NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 611 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCACCTTCCTCTGCTGTG 0.522000 12 107 0 0 0.001368 0 0 MICALL1 85377 broad.mit.edu 37 22 38328813 38328813 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:38328813G>A ENST00000215957.6 + 12 2278 c.2152G>A c.(2152-2154)Gag>Aag p.E718K MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 718 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) AGAGGGCCGTGAGGATGACAT 0.637000 6 26 0 0 0.001984 0 0 ZNF761 388561 broad.mit.edu 37 19 53945837 53945837 + RNA SNP T T C rs17855120 by1000genomes TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:53945837T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACCAGACTTTGCTTGACCT 0.512000 3 35 0 0 0.001984 0 0 BTN2A2 10385 broad.mit.edu 37 6 26392996 26392996 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:26392996C>T ENST00000356709.4 + 8 1484 c.1373C>T c.(1372-1374)tCc>tTc p.S458F BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.S248F|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.S342F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.S458F NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 458 B30.2/SPRY. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GGAGATGTCTCCTTCTACAAC 0.547000 5 78 0 0 0.000602 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38692597 38692597 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr19:38692597G>C ENST00000222345.6 + 20 5589 c.5080G>C c.(5080-5082)Gag>Cag p.E1694Q NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1694 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTGAGCCTGGAGAGGGGACC 0.647000 6 53 0 0 0.001984 0 0 CCDC60 160777 broad.mit.edu 37 12 119773051 119773051 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr12:119773051G>A ENST00000327554.2 + 1 535 c.70G>A c.(70-72)Gcc>Acc p.A24T CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.A24T|CCDC60_ENST00000536742.1_Missense_Mutation_p.A24T NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 24 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GCCCTTTTATGCCTCGGAGAA 0.483000 8 60 0 0 0.004482 0 0 DKC1 1736 broad.mit.edu 37 X 153997527 153997527 + Missense_Mutation SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:153997527T>C ENST00000369550.5 + 9 1067 c.857T>C c.(856-858)gTt>gCt p.V286A DKC1_ENST00000475966.1_3'UTR NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 286 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) CGGCGAGTTGTTTACCCTTTG 0.443000 Congenital Dyskeratosis 11 114 0 0 0.008291 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111540179 111540179 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:111540179G>C ENST00000261486.5 - 15 1545 c.1269C>G c.(1267-1269)ctC>ctG p.L423L CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000505825.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 423 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GAGAATTGTAGAGTCCACTGG 0.502000 8 69 0 0 0.003080 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139339 142139339 + RNA SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:142139339G>C ENST00000390374.3 - 0 330 TGGATCGTCAGAGTGGAGACG 0.542000 4 112 0 0 0.000248 0 0 GRHL3 57822 broad.mit.edu 37 1 24663233 24663233 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:24663233C>T ENST00000361548.4 + 4 758 c.528C>T c.(526-528)ctC>ctT p.L176L GRHL3_ENST00000356046.2_Silent_p.L130L|GRHL3_ENST00000350501.5_Silent_p.L176L|GRHL3_ENST00000342072.4_Silent_p.L83L|GRHL3_ENST00000236255.4_Silent_p.L181L NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 176 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) ATGGCTCCCTCAACTCCTTGT 0.602000 12 82 0 0 0.002450 0 0 ZNF592 9640 broad.mit.edu 37 15 85327584 85327584 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr15:85327584C>T ENST00000299927.3 + 1 1700 c.1678C>T c.(1678-1680)Cac>Tac p.H560Y ZNF592_ENST00000560079.2_Missense_Mutation_p.H560Y Q92610 ZN592_HUMAN zinc finger protein 592 560 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAAGGTCCTTCACAGCTCCAA 0.602000 6 101 0 0 0.001984 0 0 F8 2157 broad.mit.edu 37 X 154159700 154159700 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chrX:154159700C>T ENST00000360256.4 - 14 2565 c.2365G>A c.(2365-2367)Gac>Aac p.D789N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 789 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) AACCAAGGGTCAGTCTTCTCT 0.433000 6 122 0 0 0.001168 0 0 STAB1 23166 broad.mit.edu 37 3 52557144 52557144 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:52557144C>G ENST00000321725.6 + 63 7090 c.7014C>G c.(7012-7014)ttC>ttG p.F2338L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2338 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTCCACCTTCTATGGGGTGT 0.622000 13 55 0 0 0.001855 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024834 176024834 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr5:176024834C>T ENST00000303991.4 - 2 2179 c.2002G>A c.(2002-2004)Gag>Aag p.E668K NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 668 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCACCTTCTCTGAGGCCTGT 0.582000 3 35 0 0 0.004672 0 0 LEMD2 221496 broad.mit.edu 37 6 33744960 33744960 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:33744960C>G ENST00000293760.5 - 7 1232 c.1213G>C c.(1213-1215)Gaa>Caa p.E405Q LEMD2_ENST00000508327.1_Missense_Mutation_p.E103Q|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 405 Poly-Glu. integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TCCTCCTCTTCTAACTTTCGC 0.493000 4 187 0 0 0.000248 0 0 PTP4A3 11156 broad.mit.edu 37 8 142437124 142437124 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:142437124C>T ENST00000520105.1 + 4 1227 c.284C>T c.(283-285)gCc>gTc p.A95V PTP4A3_ENST00000329397.1_Missense_Mutation_p.A95V|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Missense_Mutation_p.A95V|PTP4A3_ENST00000349124.1_Missense_Mutation_p.A95V O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 95 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) TTCTGTGAGGCCCCCGGCAGC 0.687000 9 130 0 0 0.004482 0 0 GREB1 9687 broad.mit.edu 37 2 11738826 11738826 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:11738826C>G ENST00000381486.2 + 15 2473 c.2173C>G c.(2173-2175)Ctg>Gtg p.L725V GREB1_ENST00000234142.5_Missense_Mutation_p.L725V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 725 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGAGCTTGGTCTGAAGAAAGA 0.463000 7 94 0 0 0.004482 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 13 0 0 0.000248 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431919 117431919 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr7:117431919C>T ENST00000160373.3 - 4 1422 c.1331G>A c.(1330-1332)cGa>cAa p.R444Q NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 444 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGCTTGGATTCGTGGGTTTAG 0.478000 23 183 0 0 0.002299 0 0 IMPA1 3612 broad.mit.edu 37 8 82571627 82571627 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr8:82571627C>G ENST00000256108.5 - 9 1258 c.793G>C c.(793-795)Gaa>Caa p.E265Q IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.E324Q NM_005536.3 NP_005527.1 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 265 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1) 18 Lithium(DB01356) ACCTGAATTTCTTTAGCTATC 0.363000 4 50 0 0 0.000602 0 0 GSKIP 51527 broad.mit.edu 37 14 96848643 96848643 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:96848643C>T ENST00000556095.1 + 3 1871 c.59C>T c.(58-60)tCa>tTa p.S20L GSKIP_ENST00000438650.1_Missense_Mutation_p.S20L|GSKIP_ENST00000555181.1_Missense_Mutation_p.S20L|GSKIP_ENST00000554182.1_Missense_Mutation_p.S20L NM_001271904.1 NP_001258833.1 GSK3B interacting protein GAAGAAGGTTCAGAGCTGAAC 0.363000 5 52 0 0 0.000602 0 0 WRNIP1 56897 broad.mit.edu 37 6 2769019 2769019 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:2769019G>A ENST00000380769.4 + 2 488 c.257G>A c.(256-258)cGa>cAa p.R86Q WRNIP1_ENST00000380771.4_Missense_Mutation_p.R306Q|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380773.4_Missense_Mutation_p.R306Q Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 306 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) AATGATGTGCGAGATGTCATA 0.373000 4 42 0 0 0.000248 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650906 43650906 + Silent SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr10:43650906G>C ENST00000374466.3 + 2 644 c.309G>C c.(307-309)ggG>ggC p.G103G CSGALNACT2_ENST00000374464.1_Silent_p.G103G NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 103 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGAATGTAGGGGCTAATGGCA 0.433000 3 49 0 0 0.000248 0 0 HCRTR1 3061 broad.mit.edu 37 1 32092522 32092523 + Frame_Shift_Ins INS - - C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:32092522_32092523insC ENST00000403528.2 + 9 1604_1605 c.1219_1220insC c.(1219-1221)catfs p.H407fs HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Frame_Shift_Ins_p.H407fs NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 407 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) GAGCCGATGCTCCATCTCCAAA 0.658 15 137 --- --- --- --- GPR52 9293 broad.mit.edu 37 1 174417660 174417661 + Frame_Shift_Del DEL GG GG - TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr1:174417660_174417661delGG ENST00000367685.2 + 1 449_450 c.411_412delGG c.(409-414)gtatfs p.VD137fs RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 137 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 GCATCAGTGTGGATCGTTATCT 0.426 7 170 --- --- --- --- DNMT3A 1788 broad.mit.edu 37 2 25505430 25505431 + Frame_Shift_Ins INS - - C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:25505430_25505431insC ENST00000264709.3 - 4 664_665 c.327_328insG c.(325-330)ggagaafs p.E110fs DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.E110fs|DNMT3A_ENST00000406659.3_Frame_Shift_Ins_p.E110fs NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 110 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.Q110fs*14(2)|p.Q110fs*52(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCCCTTCTGCCCCCCAGCAG 0.658 """Mis, F, N, S""" AML 8 45 --- --- --- --- MGAT5 4249 broad.mit.edu 37 2 135107508 135107508 + Splice_Site DEL C C - TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:135107508delC ENST00000409645.1 + 10 1497 c.1246_splice c.e10+1 p.F415_splice MGAT5_ENST00000281923.2_Splice_Site_p.F415_splice Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 415 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ATACCATGTTCCGTGAGTATT 0.423 11 60 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179615757 179615757 + Frame_Shift_Del DEL G G - TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr2:179615757delG ENST00000360870.5 - 46 11592 c.11370delC c.(11368-11370)ccfs p.P3790fs TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9627 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) GAAAGCTTGTGGGAAGTTCCT 0.353 7 146 --- --- --- --- RYBP 23429 broad.mit.edu 37 3 72428503 72428504 + Frame_Shift_Ins INS - - T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr3:72428503_72428504insT ENST00000477973.1 - 2 497_498 c.498_499insA c.(496-501)aagagafs p.R167fs NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 218 Interaction with E4TF1B. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CCTTCTTCTCCTTTTTAGGGGG 0.401 17 85 --- --- --- --- ROS1 6098 broad.mit.edu 37 6 117665407 117665407 + Frame_Shift_Del DEL A A - TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr6:117665407delA ENST00000368508.3 - 27 4538 c.4340delT c.(4339-4341)cafs p.L1447fs GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1441fs NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1447 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) GTCTGAAGCTAGAGACAGAAA 0.348 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 7 41 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 2 4 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52473381 52473383 + In_Frame_Del DEL TGC TGC - TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr16:52473381_52473383delTGC ENST00000219746.9 - 7 1769_1771 c.1485_1487delGCA c.(1483-1488)cat>ca p.QH495del TOX3_ENST00000407228.3_In_Frame_Del_p.QH490del NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 495 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 ctgctggagatgctgctgctgct 0.567 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54869990-9fda-4876-8331-63a6bbf06756 73057f96-7752-4b61-9125-c9d26de48846 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 4 --- --- --- ---