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 MREG 55686 broad.mit.edu 37 2 216809708 216809708 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:216809708C>T ENST00000263268.6 - 5 818 c.523G>A c.(523-525)Gca>Aca p.A175T NM_018000.2 NP_060470.2 Q8N565 MREG_HUMAN melanoregulin 175 apical plasma membrane large_intestine(1)|lung(2) 3 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) GCATCAAGTGCAATGAGACGG 0.453000 6 16 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28056923 28056923 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:28056923G>A ENST00000377325.1 + 4 1689 c.1133G>A c.(1132-1134)gGg>gAg p.G378E NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 378 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AATGAATGTGGGAAAAGCTTT 0.453000 29 37 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108117775 108117775 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:108117775G>C ENST00000278616.4 + 8 1371 c.986G>C c.(985-987)aGa>aCa p.R329T ATM_ENST00000452508.2_Missense_Mutation_p.R329T NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 329 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATAGGAAGTAGAGGAAAGTAT 0.333000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 18 24 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157525118 157525118 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:157525118C>G ENST00000346085.5 + 19 5014 c.5013C>G c.(5011-5013)ttC>ttG p.F1671L ARID1B_ENST00000350026.5_Missense_Mutation_p.F1658L|ARID1B_ENST00000275248.4_Missense_Mutation_p.F1653L|ARID1B_ENST00000367148.1_Missense_Mutation_p.F1711L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1658 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTGCTACTTTCAATCTCTCCC 0.433000 41 181 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747779 68747779 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:68747779G>A ENST00000309106.3 - 1 676 c.677C>T c.(676-678)tCt>tTt p.S226F NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 226 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CACCAGGACAGAGGCCAGGAC 0.617000 5 33 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145745189 145745189 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:145745189C>T ENST00000292524.1 + 2 226 c.80C>T c.(79-81)cCa>cTa p.P27L LRRC14_ENST00000529022.1_Missense_Mutation_p.P27L NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 27 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCCTTGCTGCCACGCGAACTC 0.632000 6 45 0 0 1 0 0 PRR7 80758 broad.mit.edu 37 5 176882984 176882984 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:176882984C>G ENST00000323249.3 + 4 1177 c.687C>G c.(685-687)ctC>ctG p.L229L PRR7_ENST00000510492.1_Silent_p.L229L|PRR7_ENST00000502922.1_Silent_p.L229L NM_030567.4 NP_085044.2 Q8TB68 PRR7_HUMAN proline rich 7 (synaptic) 229 cell junction|integral to membrane|postsynaptic membrane all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCAGCCCTCTGCCTGCAGG 0.746000 3 5 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62289477 62289477 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:62289477G>A ENST00000378024.4 - 5 12686 c.12412C>T c.(12412-12414)Ctg>Ttg p.L4138L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4138 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGACCTTTCAGATTCAGGTCA 0.512000 80 162 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95820470 95820470 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:95820470C>G ENST00000416240.2 - 7 895 c.705G>C c.(703-705)aaG>aaC p.K235N SLC25A13_ENST00000265631.5_Missense_Mutation_p.K235N|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K127N NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 235 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TGCTATAGATCTTTCTAATGA 0.388000 9 133 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198718610 198718610 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:198718610G>C ENST00000367376.2 + 28 3169 c.2998G>C c.(2998-3000)Gat>Cat p.D1000H PTPRC_ENST00000594404.1_Missense_Mutation_p.D839H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D1002H|PTPRC_ENST00000348564.6_Missense_Mutation_p.D841H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D952H NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1000 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GCATGATTCAGATGAATCCTC 0.368000 13 41 0 0 1 0 0 ING2 3622 broad.mit.edu 37 4 184431737 184431737 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:184431737G>A ENST00000302327.3 + 2 677 c.475G>A c.(475-477)Gaa>Aaa p.E159K ING2_ENST00000434682.2_Missense_Mutation_p.E119K NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 159 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GCGGACCAGTGAAAGCCGTGA 0.458000 18 32 0 0 1 0 0 COPS2 9318 broad.mit.edu 37 15 49420945 49420945 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:49420945C>G ENST00000388901.5 - 12 1214 c.1141G>C c.(1141-1143)Gat>Cat p.D381H COPS2_ENST00000542928.1_Missense_Mutation_p.D317H|COPS2_ENST00000299259.6_Missense_Mutation_p.D388H NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 381 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TCAGCTACATCTATGTTTAAC 0.284000 54 140 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102611287 102611287 + Missense_Mutation SNP G G C rs145433541 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:102611287G>C ENST00000251808.3 + 8 1344 c.1006G>C c.(1006-1008)Gat>Cat p.D336H GRHL2_ENST00000395927.1_Missense_Mutation_p.D320H NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 336 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGTTACAGCCGATTACAAGGA 0.373000 4 40 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201462144 201462144 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:201462144G>A ENST00000374700.2 + 4 466 c.225G>A c.(223-225)ctG>ctA p.L75L NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 75 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ATGCCTGTCTGATTCCCATCT 0.488000 10 36 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152711869 152711869 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:152711869C>G ENST00000360283.6 - 10 1047 c.790G>C c.(790-792)Gaa>Caa p.E264Q CACNB4_ENST00000534999.1_Missense_Mutation_p.E263Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.E250Q|CACNB4_ENST00000539935.1_Missense_Mutation_p.E297Q|CACNB4_ENST00000427385.1_Missense_Mutation_p.E279Q|CACNB4_ENST00000201943.5_Missense_Mutation_p.E297Q O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 297 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) AAGATTCTTTCAATTTCACTT 0.333000 4 30 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34072437 34072437 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:34072437C>G ENST00000389232.4 + 65 9233 c.9163C>G c.(9163-9165)Ctg>Gtg p.L3055V RYR3_ENST00000415757.3_Missense_Mutation_p.L3055V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3055 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGAGAATGTCTGGCCTCGCT 0.577000 3 35 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196612556 196612556 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:196612556G>A ENST00000323460.5 + 2 753 c.504G>A c.(502-504)atG>atA p.M168I SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.M168I NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 168 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) ACTTTCCCATGAAGTTCAATG 0.483000 13 43 0 0 1 0 0 GID8 54994 broad.mit.edu 37 20 61572936 61572936 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:61572936G>C ENST00000266069.3 + 2 229 c.82G>C c.(82-84)Gac>Cac p.D28H NM_017896.2 NP_060366.1 GID complex subunit 8 CCAGAGAGCAGACATGAACCG 0.418000 10 109 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362199 87362199 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:87362199G>C ENST00000327946.7 - 16 2946 c.2861C>G c.(2860-2862)cCg>cGg p.P954R GRID1_ENST00000536331.1_Missense_Mutation_p.P525R|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 954 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCTGCTCAGCGGCAGCGGCAG 0.652000 Multiple Myeloma(13;0.14) 9 49 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 283836 283836 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:283836G>A ENST00000538872.1 + 14 3304 c.3186G>A c.(3184-3186)gtG>gtA p.V1062V IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Silent_p.V1062V Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1062 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GAGCGCCGGTGCCGCCGCCAG 0.662000 5 24 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80545005 80545005 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:80545005C>T ENST00000335255.5 + 8 1817 c.1643C>T c.(1642-1644)aCg>aTg p.T548M NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 548 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ATCATTCAGACGGCACAGACC 0.498000 16 89 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54640440 54640440 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:54640440G>C ENST00000230640.5 + 9 1251 c.997G>C c.(997-999)Gat>Cat p.D333H SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D232H NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 333 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TCTTGTGGTTGATGAAAATGT 0.333000 7 29 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21445158 21445158 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:21445158G>A ENST00000307378.6 - 13 2270 c.1550C>T c.(1549-1551)tCa>tTa p.S517L SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S515L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S517L|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S385L|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S385L NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 517 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GCTCATCGCTGACAAGATTAG 0.393000 10 37 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17598103 17598103 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:17598103C>T ENST00000252595.7 + 3 780 c.683C>T c.(682-684)tCt>tTt p.S228F SLC27A1_ENST00000442725.1_Missense_Mutation_p.S228F|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S49F NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 228 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AAGGAGGCCTCTACTGCCCCC 0.622000 3 13 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30723146 30723146 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:30723146C>A ENST00000361762.2 + 1 1110 c.102C>A c.(100-102)ctC>ctA p.L34L PCDH7_ENST00000543491.1_Silent_p.L34L NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 34 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 AGCAGCTCCTCCGGTACCGGC 0.711000 3 18 1.23904e-05 1.32142e-05 1 1 0 PRRT3 285368 broad.mit.edu 37 3 9989099 9989099 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:9989099G>A ENST00000412055.1 - 4 1887 c.1758C>T c.(1756-1758)ctC>ctT p.L586L PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 586 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GGTCTGTCGCGAGCAACCCTA 0.687000 11 30 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37058996 37058996 + Splice_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:37058996G>C ENST00000231790.2 + 10 1006 c.e10-1 MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TTATTGTTTAGATCGTCTGGT 0.418000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 10 57 0 0 1 0 0 HLA-F 3134 broad.mit.edu 37 6 29693324 29693324 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:29693324G>C ENST00000440587.2 + 5 992 c.633G>C c.(631-633)tgG>tgC p.W211C HLA-F_ENST00000259951.7_Missense_Mutation_p.W329C|HLA-F_ENST00000376861.1_Missense_Mutation_p.W329C|HLA-F_ENST00000334668.4_Missense_Mutation_p.W329C|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.W237C P30511 HLAF_HUMAN major histocompatibility complex, class I, F 329 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 CTGTGATGTGGAGGAAGAAGA 0.582000 62 54 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907795 77907795 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:77907795C>T ENST00000355300.6 - 2 628 c.454G>A c.(454-456)Gag>Aag p.E152K LINGO1_ENST00000561030.1_Missense_Mutation_p.E146K NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 152 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 ATCTTGTTCTCGCTGATGTCC 0.552000 25 74 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30681784 30681784 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:30681784G>A ENST00000534862.1 + 12 1514 c.1151G>A c.(1150-1152)cGg>cAg p.R384Q HCK_ENST00000538448.1_Missense_Mutation_p.R383Q|HCK_ENST00000520553.1_Missense_Mutation_p.R383Q|HCK_ENST00000518730.1_Missense_Mutation_p.R382Q|HCK_ENST00000375862.2_Missense_Mutation_p.R403Q|HCK_ENST00000375852.2_Missense_Mutation_p.R404Q NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 404 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGCCTGGCCCGGGTCATTGAG 0.552000 37 67 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101096056 101096056 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:101096056C>A ENST00000537026.1 - 8 771 c.412G>T c.(412-414)Gat>Tat p.D138Y NXF5_ENST00000473265.2_Missense_Mutation_p.D138Y|NXF5_ENST00000361708.2_Missense_Mutation_p.D138Y NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 138 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 AGGATTATATCAATGTCACGG 0.512000 21 112 3.28513e-13 3.70461e-13 1 1 0 PADI6 353238 broad.mit.edu 37 1 17698755 17698755 + RNA SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:17698755G>C ENST00000434762.2 + 0 65 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCAGCGTGGAGGGCCGAGCCA 0.607000 13 86 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49943411 49943411 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:49943411C>G ENST00000257981.6 + 9 1916 c.1656C>G c.(1654-1656)atC>atG p.I552M NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 552 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 ACAATGGCATCGACACCACCG 0.617000 5 21 0 0 1 0 0 GATC 283459 broad.mit.edu 37 12 120894928 120894928 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:120894928G>A ENST00000551765.1 + 3 347 c.304G>A c.(304-306)Gaa>Aaa p.E102K AL021546.6_ENST00000551806.1_Silent_p.*133* NM_176818.2 NP_789788.1 O43716 GATCL_HUMAN glutamyl-tRNA(Gln) amidotransferase, subunit C 102 regulation of translational fidelity breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTGCTGATGAATTACTACA 0.488000 OREG0022192 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 49 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42933441 42933441 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:42933441C>G ENST00000304611.8 - 13 2518 c.2449G>C c.(2449-2451)Gat>Cat p.D817H PEX6_ENST00000244546.4_Missense_Mutation_p.E734D NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 817 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) CCTCCAGAATCTCCACTTCGC 0.547000 45 255 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127622437 127622437 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:127622437G>A ENST00000508053.1 - 61 7959 c.6985C>T c.(6985-6987)Cga>Tga p.R2329* FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329* P35556 FBN2_HUMAN fibrillin 2 2329 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCGGGCCTTCGGGCCATTCCA 0.517000 4 38 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235599912 235599912 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:235599912C>G ENST00000543662.1 + 12 1211 c.1105C>G c.(1105-1107)Cag>Gag p.Q369E TBCE_ENST00000366601.3_Missense_Mutation_p.Q318E|TBCE_ENST00000406207.1_Missense_Mutation_p.Q318E|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 318 LRRCT. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AAACGACAATCAGATATCACA 0.433000 16 30 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43380573 43380573 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:43380573C>T ENST00000039989.4 + 1 83 c.69C>T c.(67-69)ctC>ctT p.L23L TTC17_ENST00000299240.6_Silent_p.L23L|RP11-484D2.2_ENST00000526220.1_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 23 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GCTGGCTCCTCAGCCTTTCCG 0.711000 6 4 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719608 81719608 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:81719608C>T ENST00000550584.2 - 21 2885 c.2590G>A c.(2590-2592)Ggg>Agg p.G864R PPFIA2_ENST00000552948.1_Missense_Mutation_p.G864R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G765R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G846R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G81R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G431R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G864R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G790R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G846R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G864R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G711R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 790 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTGCCTAACCCCAGGGACTCC 0.408000 5 34 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56149081 56149081 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:56149081C>G ENST00000361673.3 - 13 6700 c.6487G>C c.(6487-6489)Gag>Cag p.E2163Q NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2163 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CCTGGGGTCTCAGGCCCTGCC 0.483000 14 64 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534530 16534530 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:16534530C>T ENST00000270747.3 - 3 739 c.603G>A c.(601-603)ctG>ctA p.L201L NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 201 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GCCGGGTCATCAGCTCCGATG 0.662000 6 35 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39425118 39425118 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:39425118C>T ENST00000280481.7 + 10 6831 c.6615C>T c.(6613-6615)gaC>gaT p.D2205D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2205 Calx-beta 4. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGCTGATGGACGATGTGCTCT 0.478000 32 80 0 0 1 0 0 ADAP2 55803 broad.mit.edu 37 17 29276307 29276307 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:29276307G>A ENST00000330889.3 + 7 995 c.660G>A c.(658-660)gaG>gaA p.E220E ADAP2_ENST00000580525.1_Silent_p.E226E NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 220 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CTCCGCAGGAGATAGTGGACT 0.577000 7 56 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6550816 6550816 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:6550816G>A ENST00000321612.6 - 21 2706 c.2556C>T c.(2554-2556)ttC>ttT p.F852F NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 852 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTGCACCCCTGAAAAGAATTC 0.413000 27 172 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143090897 143090897 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:143090897G>A ENST00000275815.3 - 16 2649 c.2563C>T c.(2563-2565)Ctg>Ttg p.L855L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 855 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AGCTCATACAGAGGGGCAGGG 0.587000 11 56 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129958857 129958857 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:129958857G>A ENST00000259351.5 + 13 1409 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 381 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity p.R381Q(1) kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CGCAGCCCCCGAAGGGGCCTG 0.577000 28 58 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392379 124392379 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:124392379C>G ENST00000338354.3 + 48 6089 c.5983C>G c.(5983-5985)Cct>Gct p.P1995A DMBT1_ENST00000344338.3_Missense_Mutation_p.P1985A|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1367A|DMBT1_ENST00000359586.6_Missense_Mutation_p.P715A|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1367A|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1995A|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1985A Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1995 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCAACAGCTCCTTTTCTCAA 0.498000 6 14 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878510 24878510 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:24878510G>C ENST00000382554.3 + 4 1828 c.1510G>C c.(1510-1512)Gat>Cat p.D504H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 504 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TATGCAGTTAGATTTTAAGGG 0.582000 3 39 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45605496 45605496 + Missense_Mutation SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:45605496A>T ENST00000267430.5 + 1 347 c.262A>T c.(262-264)Aat>Tat p.N88Y FANCM_ENST00000556036.1_Missense_Mutation_p.N88Y|FANCM_ENST00000542564.2_Missense_Mutation_p.N88Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 88 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTACCCTACCAATTGCCCAGT 0.577000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 76 0 0 1 0 0 STX6 10228 broad.mit.edu 37 1 180959213 180959213 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:180959213C>G ENST00000258301.5 - 5 633 c.396G>C c.(394-396)tgG>tgC p.W132C STX6_ENST00000542060.1_Missense_Mutation_p.W31C NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 132 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 TTCCAGTGCTCCAGTTCTGGC 0.507000 36 96 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184041220 184041220 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:184041220C>T ENST00000342981.4 + 14 2530 c.2116C>T c.(2116-2118)Cag>Tag p.Q706* EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q705*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.Q541*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q666*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.Q618*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.Q542*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q712*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q705*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q712*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q665*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.Q619*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q712*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.Q510*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.Q509*|EIF2B5_ENST00000444495.1_Intron NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 705 MIF4G.|eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGGCGCTCTCAGCAGGGACC 0.517000 5 170 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730567 57730567 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:57730567G>C ENST00000281282.5 + 2 448 c.370G>C c.(370-372)Gag>Cag p.E124Q NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 124 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCTGCTCCATGAGGGCAAGAA 0.507000 10 72 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157502215 157502215 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:157502215G>C ENST00000346085.5 + 12 3249 c.3248G>C c.(3247-3249)aGa>aCa p.R1083T ARID1B_ENST00000350026.5_Missense_Mutation_p.R1070T|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1065T|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1123T NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1070 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ATGGAAGAGAGAGGCTCTCCT 0.572000 7 28 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254932 51254932 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:51254932C>T ENST00000404971.1 - 2 1819 c.480G>A c.(478-480)ccG>ccA p.P160P NRXN1_ENST00000402717.3_Silent_p.P160P|NRXN1_ENST00000406316.2_Silent_p.P160P|NRXN1_ENST00000405472.3_Silent_p.P160P|NRXN1_ENST00000405581.1_Silent_p.P160P|NRXN1_ENST00000401669.2_Silent_p.P160P|NRXN1_ENST00000406859.3_Silent_p.P160P NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 160 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.P160P(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGCGCAGTTCCGGGGGCAGCC 0.667000 12 17 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54173570 54173570 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:54173570C>T ENST00000259782.4 + 1 318 c.222C>T c.(220-222)ttC>ttT p.F74F TINAG_ENST00000370864.3_Silent_p.F56F|TINAG_ENST00000370869.3_Silent_p.F70F|TINAG_ENST00000486436.1_3'UTR NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 74 SMB. cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TCACTGAGTTCTATGCGGCGA 0.418000 47 133 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54257236 54257236 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:54257236G>T ENST00000507166.1 + 8 566 c.566G>T c.(565-567)tGt>tTt p.C189F FIP1L1_ENST00000337488.6_Missense_Mutation_p.C189F|FIP1L1_ENST00000306932.6_Missense_Mutation_p.C174F|FIP1L1_ENST00000507922.1_Missense_Mutation_p.C174F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.C174F Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 189 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAAGCTTACTGTGAAAAACAA 0.318000 T PDGFRA idiopathic hypereosinophilic syndrome 4 96 0.150653 0.151424 1 1 0 GDPD3 79153 broad.mit.edu 37 16 30122749 30122749 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:30122749C>T ENST00000406256.3 - 7 1044 c.667G>A c.(667-669)Gag>Aag p.E223K NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 223 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 AAGAACTTCTCAGGGATTGGG 0.562000 20 130 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247358 164247358 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:164247358G>A ENST00000296533.2 - 2 880 c.349C>T c.(349-351)Cct>Tct p.P117S NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 117 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGCACAAAAGGATTCAACTTA 0.453000 40 66 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108436119 108436119 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:108436119G>A ENST00000281092.4 + 17 2331 c.1947G>A c.(1945-1947)ctG>ctA p.L649L FER_ENST00000438717.2_Silent_p.L474L NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 649 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TCACCTTTCTGAGAAGGAAGA 0.353000 15 83 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89304426 89304426 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:89304426G>C ENST00000380265.5 + 2 436 c.253G>C c.(253-255)Gag>Cag p.E85Q HERC6_ENST00000264346.7_Missense_Mutation_p.E85Q|HERC6_ENST00000273960.3_Missense_Mutation_p.E85Q NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 85 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CTGCGGGAAGGAGCACTCCCT 0.498000 5 12 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103311734 103311734 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:103311734G>C ENST00000520539.1 - 24 3754 c.3148C>G c.(3148-3150)Ctt>Gtt p.L1050V UBR5_ENST00000521922.1_Missense_Mutation_p.L1044V|UBR5_ENST00000220959.4_Missense_Mutation_p.L1050V NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1050 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GCTGTGGTAAGAGATCCCACA 0.433000 6 38 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43388916 43388916 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:43388916C>T ENST00000296088.7 + 7 1469 c.1165C>T c.(1165-1167)Cag>Tag p.Q389* SNRK_ENST00000437827.1_Nonsense_Mutation_p.Q183*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.Q389*|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Nonsense_Mutation_p.Q389* NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 389 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) GACTGTCCCTCAGTCTCCTGC 0.552000 6 56 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29195959 29195959 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:29195959C>T ENST00000240100.2 - 3 1028 c.639G>A c.(637-639)cgG>cgA p.R213R DUSP4_ENST00000240101.2_Silent_p.R122R NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 213 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GCATGTCTCTCCGGGCAGCAT 0.567000 5 34 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36185777 36185777 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:36185777G>A ENST00000357641.6 + 9 3326 c.3073G>A c.(3073-3075)Gaa>Aaa p.E1025K BRPF3_ENST00000534400.1_Missense_Mutation_p.E1025K|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Missense_Mutation_p.E755K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E755K|BRPF3_ENST00000443324.2_Intron NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1025 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ACTGGCATTTGAAGCTTGCAG 0.493000 12 68 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533469 533469 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:533469G>T ENST00000417302.1 - 4 621 c.434C>A c.(433-435)tCg>tAg p.S145* HRAS_ENST00000451590.1_Nonsense_Mutation_p.S145*|HRAS_ENST00000311189.7_Nonsense_Mutation_p.S145*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.S145*|HRAS_ENST00000397594.1_Nonsense_Mutation_p.S145* NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 145 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GGTCTTGGCCGAGGTCTCGAT 0.677000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 10 57 0.000673444 0.000696483 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 3 54 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51771089 51771089 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:51771089G>C ENST00000371117.3 - 41 7007 c.6732C>G c.(6730-6732)ctC>ctG p.L2244L PKHD1_ENST00000340994.4_Silent_p.L2244L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2244 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CGCACATGCTGAGGCCTCTAC 0.428000 6 65 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107717510 107717510 + Splice_Site SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:107717510C>T ENST00000388781.3 - 17 2087 c.e17-1 LAMB4_ENST00000418464.1_Splice_Site|LAMB4_ENST00000414450.2_Splice_Site|LAMB4_ENST00000388780.3_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAGCATGATTCTGTATTAAGA 0.383000 14 55 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096105 167096105 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:167096105G>C ENST00000361200.2 + 6 1903 c.1737G>C c.(1735-1737)aaG>aaC p.K579N DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.K579N|DUSP27_ENST00000443333.1_Missense_Mutation_p.K579N Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 579 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TAGGGGAGAAGAACCCCTCCG 0.562000 10 54 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30544281 30544281 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:30544281C>T ENST00000569360.1 - 3 704 c.532G>A c.(532-534)Gac>Aac p.D178N ZNF747_ENST00000568028.1_Missense_Mutation_p.D178N|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.D178N Q9BV97 ZN747_HUMAN zinc finger protein 747 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 TGACGCTGGTCAGCTCGGGGG 0.672000 3 14 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44640364 44640364 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:44640364C>T ENST00000372330.3 + 6 994 c.975C>T c.(973-975)ctC>ctT p.L325L NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 325 Fibronectin type-II 2. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GGGACAAGCTCTTCGGCTTCT 0.642000 OREG0025989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 43 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22020561 22020561 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:22020561G>C ENST00000284202.4 + 6 610 c.469G>C c.(469-471)Gat>Cat p.D157H NM_018439.3 NP_060909 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 157 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) ATTGGATTTTGATATCAGTGA 0.358000 16 81 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154274 5154274 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:5154274G>A ENST00000252321.3 + 1 1190 c.961G>A c.(961-963)Gcc>Acc p.A321T NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 321 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAGGACCCTGGCCGACCCCTT 0.711000 13 61 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88414976 88414976 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:88414976C>T ENST00000418378.1 - 5 1547 c.976G>A c.(976-978)Gat>Aat p.D326N SPARCL1_ENST00000282470.6_Missense_Mutation_p.D326N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D201N NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 326 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TTACCATCATCAGTAGGTTCC 0.493000 32 179 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82431176 82431176 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:82431176G>A ENST00000268206.7 - 19 3165 c.2997C>T c.(2995-2997)gtC>gtT p.V999V EFTUD1_ENST00000359445.3_Silent_p.V948V NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 999 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 AGACAGCATAGACTCGACCTG 0.403000 21 57 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145745822 145745822 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:145745822C>G ENST00000292524.1 + 3 676 c.530C>G c.(529-531)tCc>tGc p.S177C LRRC14_ENST00000529022.1_Missense_Mutation_p.S177C NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 177 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AACCGGGCCTCCTATGCGTTC 0.711000 19 102 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7606582 7606582 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:7606582C>G ENST00000316024.5 + 10 3773 c.1425C>G c.(1423-1425)ctC>ctG p.L475L WRAP53_ENST00000396463.2_Silent_p.L475L|WRAP53_ENST00000457584.2_Silent_p.L475L|WRAP53_ENST00000431639.2_Silent_p.L475L|WRAP53_ENST00000534050.1_Silent_p.L442L Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 475 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GCCTGCCTCTCCTGGCCACTG 0.632000 12 46 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158906794 158906794 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:158906794G>C ENST00000368140.1 + 2 339 c.94G>C c.(94-96)Gat>Cat p.D32H PYHIN1_ENST00000392252.3_Missense_Mutation_p.D32H|PYHIN1_ENST00000392254.2_Missense_Mutation_p.D32H|PYHIN1_ENST00000368138.3_Missense_Mutation_p.D32H|PYHIN1_ENST00000368135.4_Missense_Mutation_p.D32H NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 32 DAPIN. cell cycle nuclear speck p.D32N(3) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACTGAGTAACGATTTAAAACT 0.338000 5 72 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13228197 13228197 + Missense_Mutation SNP T T G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:13228197T>G ENST00000378694.1 + 8 1207 c.1132T>G c.(1132-1134)Tta>Gta p.L378V MCM10_ENST00000378714.3_Missense_Mutation_p.L378V|MCM10_ENST00000484800.2_Missense_Mutation_p.L379V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 379 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TCAGAAGGTCTTAATTATGGG 0.443000 25 215 0 0 1 0 0 OIP5 11339 broad.mit.edu 37 15 41605509 41605509 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:41605509C>T ENST00000220514.3 - 4 615 c.556G>A c.(556-558)Gat>Aat p.D186N NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 186 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) TTTTGAATATCCATCTCTGAT 0.294000 13 76 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178871316 178871316 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:178871316G>C ENST00000367635.3 + 18 1938 c.1600G>C c.(1600-1602)Gat>Cat p.D534H RALGPS2_ENST00000367634.2_Missense_Mutation_p.D508H NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 534 PH.|Required for stimulation of nucleotide exchange by RALA (By similarity). small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGAACATCCTGATCTCTTCCT 0.393000 14 88 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8526502 8526502 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:8526502G>C ENST00000360416.3 - 2 201 c.63C>G c.(61-63)atC>atG p.I21M MYH10_ENST00000396239.1_Missense_Mutation_p.I21M|MYH10_ENST00000379980.4_Missense_Mutation_p.I21M|MYH10_ENST00000269243.4_Missense_Mutation_p.I21M NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 21 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CAGGGTTGTAGATGACAGCCC 0.478000 15 93 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44624540 44624540 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:44624540G>A ENST00000415895.4 - 6 737 c.662C>T c.(661-663)tCa>tTa p.S221L YIPF7_ENST00000332990.5_Missense_Mutation_p.S245L Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 CTTGGAAGCTGAGAGACTACA 0.468000 8 29 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548613 22548613 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:22548613G>C ENST00000317216.2 - 2 894 c.537C>G c.(535-537)gcC>gcG p.A179A EGR3_ENST00000522910.1_Silent_p.A141A|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 179 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) ACGCCGGCTTGGCCGATTGGT 0.602000 7 30 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080465 40080465 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:40080465C>G ENST00000336649.4 + 39 6007 c.6007C>G c.(6007-6009)Ctg>Gtg p.L2003V CACNA1I_ENST00000400164.3_Missense_Mutation_p.L1962V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L1962V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.L1997V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L1997V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L1962V Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1997 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGGGCATCTCTGCGGTCACC 0.622000 5 15 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136960710 136960710 + Translation_Start_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:136960710G>C ENST00000355845.4 - 0 379 MAP3K5_ENST00000359015.4_Missense_Mutation_p.I635M|RP3-325F22.3_ENST00000432477.1_RNA Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TACAGAAATAGATTTGGAAAT 0.303000 7 13 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616220 1616220 + Silent SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:1616220T>C ENST00000381580.1 - 4 854 c.675A>G c.(673-675)caA>caG p.Q225Q SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Silent_p.Q258Q|RP11-77C3.3_ENST00000456177.1_RNA Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 258 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCATGGGCTGTTGAGTAACCT 0.542000 3 82 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67942494 67942494 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:67942494G>C ENST00000304363.4 - 5 887 c.534C>G c.(532-534)ttC>ttG p.F178L SUV420H1_ENST00000401547.2_Missense_Mutation_p.F178L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.F155L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.F178L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.F178L NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CATGTTCTTTGAATAATTTCT 0.318000 10 28 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45545908 45545908 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:45545908G>T ENST00000291576.7 + 16 2109 c.1982G>T c.(1981-1983)aGa>aTa p.R661I PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 661 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TTGAACCGAAGAAAAATGACA 0.542000 6 34 0.00116845 0.00120367 1 1 0 EID3 493861 broad.mit.edu 37 12 104698562 104698562 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:104698562G>C ENST00000527879.1 + 1 1046 c.850G>C c.(850-852)Gag>Cag p.E284Q TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GCCAATATTAGAGCCGATGAA 0.378000 7 77 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123538964 123538964 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:123538964C>G ENST00000422452.2 - 27 5371 c.5308G>C c.(5308-5310)Gag>Cag p.E1770Q STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E1763Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCATTGTGCTCTCCGGGCAAT 0.547000 12 64 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5415970 5415970 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:5415970G>T ENST00000341928.2 - 13 2254 c.1914C>A c.(1912-1914)ttC>ttA p.F638L EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F638L|EPB41L3_ENST00000400111.3_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 638 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AGAAAAAGATGAAGAGGAAAC 0.562000 9 42 2.17888e-05 2.31745e-05 1 1 0 SERHL2 253190 broad.mit.edu 37 22 42968461 42968461 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:42968461G>A ENST00000327678.5 + 11 853 c.751G>A c.(751-753)Gat>Aat p.D251N SERHL2_ENST00000407614.4_Missense_Mutation_p.D71N|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_3'UTR|SERHL2_ENST00000335879.5_Missense_Mutation_p.D187N NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 251 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 CGGATATTTTGATTCAAGACA 0.532000 15 98 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73048358 73048358 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:73048358C>T ENST00000335350.6 + 7 1351 c.935C>T c.(934-936)tCa>tTa p.S312L UNC5B_ENST00000373192.4_Missense_Mutation_p.S312L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 312 TSP type-1 2. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AGCAAGTGGTCAGCCTGCAGC 0.617000 12 96 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101257282 101257282 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:101257282C>T ENST00000342624.5 - 19 2507 c.2249G>A c.(2248-2250)aGa>aAa p.R750K TMTC4_ENST00000328767.5_Missense_Mutation_p.R620K|TMTC4_ENST00000376234.3_Missense_Mutation_p.R731K NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 731 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTCTAGCTTTCTTCTCAGCAG 0.433000 20 139 0 0 1 0 0 TAF1D 79101 broad.mit.edu 37 11 93470346 93470346 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:93470346C>T ENST00000448108.2 - 4 1169 c.519G>A c.(517-519)ctG>ctA p.L173L NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 ATGATTCTTTCAGGTGGTGTT 0.303000 10 68 0 0 1 0 0 EIF3I 8668 broad.mit.edu 37 1 32690056 32690056 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:32690056G>C ENST00000373586.1 + 4 302 c.230G>C c.(229-231)cGt>cCt p.R77P EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 77 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.R77P(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) AACAGCTGTCGTCTCTGGGAC 0.473000 8 59 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95570330 95570330 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:95570330G>C ENST00000526495.1 - 23 3694 c.3403C>G c.(3403-3405)Caa>Gaa p.Q1135E DICER1_ENST00000343455.3_Missense_Mutation_p.Q1135E|DICER1_ENST00000541352.1_Missense_Mutation_p.Q1135E|DICER1_ENST00000556045.1_Missense_Mutation_p.Q33E|DICER1_ENST00000393063.1_Missense_Mutation_p.Q1135E|DICER1_ENST00000527414.1_Missense_Mutation_p.Q1135E Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1135 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 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) TTAGCACCTTGATGTGCAGCA 0.418000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 15 51 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7875815 7875815 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:7875815G>C ENST00000378789.3 - 5 829 c.778C>G c.(778-780)Cat>Gat p.H260D NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 260 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CGAGCCCCATGATTCGACACC 0.473000 38 65 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45605497 45605497 + Missense_Mutation SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:45605497A>T ENST00000267430.5 + 1 348 c.263A>T c.(262-264)aAt>aTt p.N88I FANCM_ENST00000556036.1_Missense_Mutation_p.N88I|FANCM_ENST00000542564.2_Missense_Mutation_p.N88I NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 88 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TACCCTACCAATTGCCCAGTG 0.582000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 76 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36717828 36717828 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:36717828C>T ENST00000264659.7 - 7 1795 c.1571G>A c.(1570-1572)gGa>gAa p.G524E SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G558E NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 396 Interaction with SNAP25 (By similarity). exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GGTCTTCCCTCCAGGACTCTC 0.731000 3 13 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559118 140559118 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140559118C>T ENST00000239444.2 + 1 1748 c.1503C>T c.(1501-1503)ctC>ctT p.L501L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 501 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTGCCCCTCGCCTCCCTGG 0.672000 31 319 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15726550 15726550 + RNA SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:15726550C>G ENST00000441682.2 + 0 187 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTATGCCTTCTATCACAACG 0.672000 7 58 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144843165 144843165 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:144843165G>C ENST00000367545.3 + 39 5591 c.5591G>C c.(5590-5592)aGa>aCa p.R1864T NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1864 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) TCTGGAATTAGATCATCACTT 0.303000 13 82 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051800 96051800 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:96051800G>C ENST00000297954.4 + 20 4875 c.4875G>C c.(4873-4875)ctG>ctC p.L1625L WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.L1237L|WNK2_ENST00000427277.2_Silent_p.L1200L|WNK2_ENST00000395477.2_Silent_p.L1588L|WNK2_ENST00000356055.3_5'UTR NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1625 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGGAGCCCCTGAGAGGGGACC 0.697000 7 10 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179290627 179290627 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:179290627C>T ENST00000356834.3 - 22 3611 c.3574G>A c.(3574-3576)Gtc>Atc p.V1192I TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.V1175I|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.V351I|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.V333I NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1192 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGGTGTCGACGGTGCCGCCG 0.622000 5 35 0 0 1 0 0 EPDR1 54749 broad.mit.edu 37 7 37960368 37960368 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:37960368C>T ENST00000559325.1 + 1 206 c.187C>T c.(187-189)Cgc>Tgc p.R63C EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000476620.1_Intron Q9UM22 EPDR1_HUMAN ependymin related 1 0 cell-matrix adhesion extracellular region calcium ion binding p.R63C(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 TACCGGGACTCGCGCGTCCGG 0.672000 4 19 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204198202 204198202 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:204198202C>G ENST00000272203.3 - 19 2930 c.2614G>C c.(2614-2616)Gac>Cac p.D872H PLEKHA6_ENST00000414478.1_Missense_Mutation_p.D892H NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 872 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTGGAGATGTCTACCTCATGG 0.627000 4 31 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27255125 27255125 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:27255125G>A ENST00000397501.1 + 7 832 c.24G>A c.(22-24)ctG>ctA p.L8L PTK2B_ENST00000420218.2_Silent_p.L8L|PTK2B_ENST00000346049.5_Silent_p.L8L|PTK2B_ENST00000517339.1_Silent_p.L8L|PTK2B_ENST00000338238.4_Silent_p.L8L|PTK2B_ENST00000544172.1_Silent_p.L8L NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 8 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCGAGCCCCTGAGTCGAGTAA 0.592000 20 89 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98655043 98655043 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:98655043C>G ENST00000361125.1 - 4 654 c.335G>C c.(334-336)gGa>gCa p.G112A SMURF1_ENST00000361368.2_Missense_Mutation_p.G112A|SMURF1_ENST00000480055.1_5'UTR NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 112 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GTTCTTACATCCGGTATCTTT 0.453000 4 84 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135084453 135084453 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:135084453G>A ENST00000445355.3 - 14 1546 c.1496C>T c.(1495-1497)tCc>tTc p.S499F ADAM8_ENST00000415217.3_Missense_Mutation_p.S499F|ADAM8_ENST00000485491.2_Missense_Mutation_p.S460F NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 460 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 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) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GTAGCCCCCGGAGCAGGGCGT 0.667000 6 36 0 0 1 0 0 NUDC 10726 broad.mit.edu 37 1 27272063 27272063 + Nonsense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:27272063C>A ENST00000321265.5 + 8 953 c.830C>A c.(829-831)tCa>tAa p.S277* NUDC_ENST00000484772.1_3'UTR NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 277 cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) CCTCAGCTGTCAGACCTGGAC 0.562000 11 46 0.000673444 0.000696483 1 1 0 PPP2R3C 55012 broad.mit.edu 37 14 35565970 35565970 + Splice_Site SNP C C A rs145714144 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:35565970C>A ENST00000261475.5 - 8 1060 c.707G>T c.(706-708)gGa>gTa p.G236V NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 236 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TTTTATCTTTCCTTTAAGAAC 0.249000 17 54 4.7546e-09 5.21944e-09 1 1 0 KLHL22 84861 broad.mit.edu 37 22 20800943 20800943 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:20800943C>T ENST00000328879.4 - 6 1482 c.1326G>A c.(1324-1326)gcG>gcA p.A442A KLHL22_ENST00000440659.2_Silent_p.A299A NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 442 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCTCCAGCGTCGCGCCTGCGT 0.587000 17 86 0 0 1 0 0 SLC10A7 84068 broad.mit.edu 37 4 147215230 147215230 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:147215230G>C ENST00000432059.2 - 7 780 c.534C>G c.(532-534)atC>atG p.I178M SLC10A7_ENST00000394062.3_Missense_Mutation_p.I191M|SLC10A7_ENST00000507030.1_Missense_Mutation_p.I191M|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I191M Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 191 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) GCCAATCCTTGATGTATCTTC 0.443000 7 20 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44888530 44888530 + Missense_Mutation SNP G G C rs138850981 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:44888530G>C ENST00000261866.7 - 25 4201 c.4185C>G c.(4183-4185)ttC>ttG p.F1395L SPG11_ENST00000558319.1_Missense_Mutation_p.F1395L|SPG11_ENST00000427534.2_Missense_Mutation_p.F1395L|SPG11_ENST00000535302.2_Missense_Mutation_p.F1395L NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1395 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGACTGGGCTGAAGTACTGGA 0.453000 13 70 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61623093 61623093 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:61623093G>C ENST00000583023.1 + 14 2826 c.2815G>C c.(2815-2817)Gag>Cag p.E939Q KCNH6_ENST00000581784.1_Missense_Mutation_p.E850Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.E903Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E850Q NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 939 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GGAACAGCCTGAGGGGCTCTG 0.582000 6 74 0 0 1 0 0 HIST4H4 121504 broad.mit.edu 37 12 14923708 14923708 + Nonstop_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:14923708C>G ENST00000539745.1 - 1 357 c.311G>C c.(310-312)tGa>tCa p.*104S NM_175054.2 NP_778224.1 P62805 H4_HUMAN histone cluster 4, H4 0 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6 GGGGACAGCTCAACCGCCGAA 0.547000 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 48 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102822569 102822569 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:102822569G>A ENST00000370200.5 + 2 546 c.220G>A c.(220-222)Gac>Aac p.D74N NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 74 Cys-rich.|IGFBP N-terminal. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) CAGGGTGCGCGACGCGTGCGG 0.736000 4 33 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544702 115544702 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:115544702C>T ENST00000310836.6 + 2 1188 c.666C>T c.(664-666)taC>taT p.Y222Y UGT8_ENST00000394511.3_Silent_p.Y222Y NM_001128174.1 NP_001121646 Q16880 CGT_HUMAN UDP glycosyltransferase 8 222 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGCAGAAGTACAACCTGCTGC 0.463000 15 57 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982756 57982756 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:57982756C>G ENST00000309433.6 + 1 540 c.540C>G c.(538-540)ctC>ctG p.L180L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TTCAATTGCTCTTCTGTAACC 0.453000 28 134 0 0 1 0 0 DHFR 1719 broad.mit.edu 37 5 79945222 79945222 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:79945222G>A ENST00000439211.2 - 3 721 c.228C>T c.(226-228)ctC>ctT p.L76L DHFR_ENST00000511032.1_Silent_p.L76L|DHFR_ENST00000505337.1_Silent_p.L76L|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Silent_p.L24L NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase 76 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) GTTCTCTGCTGAGAACTAAAT 0.333000 10 53 0 0 1 0 0 JSRP1 126306 broad.mit.edu 37 19 2254460 2254460 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:2254460G>C ENST00000300961.6 - 3 195 c.131C>G c.(130-132)tCc>tGc p.S44C JSRP1_ENST00000586471.2_Missense_Mutation_p.S44C NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 Mediates interaction with CACNA1S (By similarity). sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGCTGCCGGAGTCGGCCAG 0.657000 5 24 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 22 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105200108 105200108 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:105200108G>C ENST00000369797.3 + 29 4304 c.4210G>C c.(4210-4212)Gac>Cac p.D1404H NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1404 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGGGAAGCCAGACGTGCTTTC 0.478000 16 75 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531943 42531943 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:42531943G>A ENST00000282030.5 + 4 2934 c.2638G>A c.(2638-2640)Gac>Aac p.D880N NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 880 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAGCACTTCTGACCAAGCGGA 0.557000 Schinzel-Giedion syndrome 4 20 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133559262 133559262 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:133559262G>C ENST00000332070.3 + 10 1202 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q PHF6_ENST00000370803.3_Missense_Mutation_p.E334Q|PHF6_ENST00000416404.2_Missense_Mutation_p.E300Q|PHF6_ENST00000394292.1_Missense_Mutation_p.E335Q NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) TGGAAATGATGAGAGAGATGA 0.368000 """F, N, Splice, Mis""" ETP ALL 13 45 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90041535 90041535 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:90041535G>T ENST00000405460.2 + 52 10993 c.10897G>T c.(10897-10899)Gag>Tag p.E3633* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3633 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGAGGAGCAGAGATTGGCAT 0.368000 9 35 0.00829132 0.00841987 1 1 0 KCNH2 3757 broad.mit.edu 37 7 150647216 150647216 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:150647216G>C ENST00000430723.3 - 9 2450 c.2438C>G c.(2437-2439)tCt>tGt p.S813C KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000330883.4_Intron NM_172056.2 NP_742053.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 0 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGAGGCTGCAGAGGGCATTTC 0.612000 4 45 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526177 13526177 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:13526177C>T ENST00000318426.2 - 3 595 c.378G>A c.(376-378)gtG>gtA p.V126V C12orf36_ENST00000527705.2_Silent_p.V126V chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) ATTGATGCCTCACATCTTCCT 0.403000 16 109 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16981132 16981132 + Missense_Mutation SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:16981132T>C ENST00000377833.4 - 38 5628 c.5563A>G c.(5563-5565)Aat>Gat p.N1855D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1855 CUB 13. 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) CCCACAATATTATCATTGCCA 0.393000 11 66 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47679743 47679743 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:47679743G>C ENST00000262982.2 + 3 213 c.90G>C c.(88-90)gaG>gaC p.E30D CSE1L_ENST00000542325.1_5'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.E30D NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 30 Importin N-terminal. apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTACAGCTGAGAAATTTCTTG 0.274000 6 63 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131870321 131870321 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:131870321C>G ENST00000318080.2 - 2 357 c.63G>C c.(61-63)ttG>ttC p.L21F CRAT_ENST00000393384.3_Missense_Mutation_p.L21F|CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 21 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AAGCCTTCATCAAGGAGAAGG 0.627000 14 28 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416756 82416756 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:82416756C>G ENST00000370728.1 + 10 2192 c.1547C>G c.(1546-1548)cCc>cGc p.P516R LPHN2_ENST00000370727.1_Missense_Mutation_p.P516R|LPHN2_ENST00000271029.4_Missense_Mutation_p.P516R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.P516R|LPHN2_ENST00000370715.1_Missense_Mutation_p.P516R|LPHN2_ENST00000319517.6_Missense_Mutation_p.P516R|LPHN2_ENST00000370721.1_Missense_Mutation_p.P454R|LPHN2_ENST00000370717.2_Missense_Mutation_p.P516R|LPHN2_ENST00000370730.1_Missense_Mutation_p.P516R|LPHN2_ENST00000394879.1_Missense_Mutation_p.P516R|LPHN2_ENST00000370725.1_Missense_Mutation_p.P516R|LPHN2_ENST00000370723.1_Missense_Mutation_p.P516R|LPHN2_ENST00000335786.5_Missense_Mutation_p.P516R|LPHN2_ENST00000359929.3_Missense_Mutation_p.P516R O95490 LPHN2_HUMAN latrophilin 2 516 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCTAAGGGCCCCGATCTTAGC 0.423000 22 70 0 0 1 0 0 PXMP4 11264 broad.mit.edu 37 20 32295554 32295554 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:32295554G>C ENST00000409299.3 - 4 689 c.597C>G c.(595-597)atC>atG p.I199M PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 199 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 GGAAGTCTGAGATGTCGTGCC 0.547000 32 126 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32581920 32581920 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:32581920C>G ENST00000319778.6 - 4 964 c.662G>C c.(661-663)cGa>cCa p.R221P EPC1_ENST00000375110.2_Missense_Mutation_p.R171P|EPC1_ENST00000263062.8_Missense_Mutation_p.R221P NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 221 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) ACTTACTTTTCGAGTCTGCAT 0.294000 20 47 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 67012265 67012265 + Nonstop_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:67012265G>C ENST00000276570.5 + 6 886 c.599G>C c.(598-600)tGa>tCa p.*200S DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 0 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) ACAGACTCTTGATATTGAGCC 0.448000 5 35 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112364650 112364650 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:112364650C>G ENST00000302475.4 - 16 2853 c.2290G>C c.(2290-2292)Gat>Cat p.D764H MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.D954H|MCC_ENST00000515367.2_Missense_Mutation_p.D701H NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 764 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CGCTTTAGATCATTCACGAAC 0.522000 18 103 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74128016 74128016 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:74128016G>T ENST00000398761.4 - 14 1506 c.1374C>A c.(1372-1374)ctC>ctA p.L458L MICU1_ENST00000398763.4_Silent_p.L258L|MICU1_ENST00000418483.2_Silent_p.L258L|MICU1_ENST00000361114.5_Silent_p.L456L|MICU1_ENST00000401998.3_Silent_p.L456L Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 456 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding TGGCCTGCATGAGGCGAGTGA 0.522000 5 31 3.59834e-05 3.81171e-05 1 1 0 GDPD3 79153 broad.mit.edu 37 16 30123468 30123468 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:30123468C>T ENST00000406256.3 - 6 935 c.558G>A c.(556-558)aaG>aaA p.K186K NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 186 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 CCTTGCATTTCTTCATGACCG 0.622000 15 68 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4876139 4876139 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:4876139C>T ENST00000361571.5 - 14 2836 c.2425G>A c.(2425-2427)Gag>Aag p.E809K CAMTA2_ENST00000381311.5_Missense_Mutation_p.E812K|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E833K|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E815K|CAMTA2_ENST00000348066.3_Missense_Mutation_p.E810K|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E810K NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 810 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGTAGTTCCTCAAGGCAGCGG 0.612000 39 135 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79741237 79741237 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:79741237C>T ENST00000372371.3 - 29 3977 c.3840G>A c.(3838-3840)atG>atA p.M1280I NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1280 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TGTCGATGCTCATGCCGTGGT 0.572000 60 227 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4882142 4882142 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:4882142C>T ENST00000321919.9 - 5 451 c.375G>A c.(373-375)gaG>gaA p.E125E GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Silent_p.E125E|GLYR1_ENST00000381983.3_Silent_p.E125E|GLYR1_ENST00000586901.1_5'UTR NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 125 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GTTTGCGCTTCTCATCACCTG 0.448000 25 98 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 7 35 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689953 42689953 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:42689953G>A ENST00000230381.5 - 1 359 c.120C>T c.(118-120)ttC>ttT p.F40F NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 40 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CAATCTTCAGGAACAGTCCTA 0.498000 14 77 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91182020 91182020 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:91182020G>A ENST00000420329.2 + 13 1668 c.1521G>A c.(1519-1521)atG>atA p.M507I CRTC3_ENST00000268184.6_Missense_Mutation_p.M507I|RP11-387D10.2_ENST00000559531.1_RNA NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 507 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGCAGTCCATGAGGCCAGGCC 0.488000 T MAML2 salivary gland mucoepidermoid 9 54 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27887292 27887292 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:27887292G>A ENST00000326019.6 + 1 955 c.673G>A c.(673-675)Gac>Aac p.D225N NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 225 FHA. cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) CGGAGAATGCGACAGCAACGG 0.622000 7 44 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5711790 5711790 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:5711790C>T ENST00000360614.3 - 4 1019 c.862G>A c.(862-864)Gag>Aag p.E288K LONP1_ENST00000540670.2_Missense_Mutation_p.E92K|LONP1_ENST00000590729.1_Intron|LONP1_ENST00000585374.1_Missense_Mutation_p.E174K|LONP1_ENST00000593119.1_Missense_Mutation_p.E224K NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 288 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACTTTCACCTCCTCCGTGACC 0.667000 10 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476135 179476135 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:179476135C>T ENST00000589042.1 - 269 51045 c.50821G>A c.(50821-50823)Gaa>Aaa p.E16941K TTN_ENST00000342992.6_Missense_Mutation_p.E14373K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7876K|TTN_ENST00000342175.6_Missense_Mutation_p.E8068K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15300K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8001K|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15300 Fibronectin type-III 23. 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) TCAGAGATTTCAGATGGCTCG 0.388000 19 37 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33259411 33259411 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:33259411G>T ENST00000314144.5 - 11 1437 c.1322C>A c.(1321-1323)gCt>gAt p.A441D CCT6B_ENST00000436961.3_Missense_Mutation_p.A396D|CCT6B_ENST00000421975.3_Missense_Mutation_p.A404D NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 441 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TAAGGCATCAGCAAAAGCTTG 0.403000 29 170 2.48779e-11 2.76578e-11 1 1 0 VPS35 55737 broad.mit.edu 37 16 46697018 46697018 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:46697018G>A ENST00000299138.7 - 14 1762 c.1704C>T c.(1702-1704)atC>atT p.I568I NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 568 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding p.I568I(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCAAAGCACTGATAGTCTGGT 0.363000 4 59 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192484 132192484 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:132192484G>A ENST00000359827.3 - 2 1931 c.969C>T c.(967-969)ggC>ggT p.G323G PLXNA4_ENST00000378539.5_Silent_p.G323G|PLXNA4_ENST00000321063.4_Silent_p.G323G|PLXNA4_ENST00000423507.2_Silent_p.G323G Q9HCM2 PLXA4_HUMAN plexin A4 323 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CAAGGGTCCTGCCAAGCACGG 0.592000 4 45 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9496141 9496141 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:9496141G>C ENST00000396602.2 + 5 453 c.334G>C c.(334-336)Gaa>Caa p.E112Q ZNF143_ENST00000530463.1_Missense_Mutation_p.E111Q|ZNF143_ENST00000396604.1_Missense_Mutation_p.E111Q|ZNF143_ENST00000396597.3_Missense_Mutation_p.E81Q|ZNF143_ENST00000299606.2_Intron NM_001282656.1|NM_001282657.1|NM_003442.5 NP_001269585.1|NP_001269586.1|NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 112 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AGTACAGTTAGAAGATGGTAC 0.398000 8 62 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20907444 20907444 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:20907444C>T ENST00000263205.7 + 4 290 c.221C>T c.(220-222)tCt>tTt p.S74F MED15_ENST00000425759.2_Missense_Mutation_p.S34F|MED15_ENST00000406969.1_Missense_Mutation_p.S48F|MED15_ENST00000541476.1_Missense_Mutation_p.S48F|MED15_ENST00000382974.2_Missense_Mutation_p.S74F|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.S74F NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 74 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) AACAAGAAATCTCAAGCTTCC 0.363000 13 100 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 70992647 70992647 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:70992647C>T ENST00000354624.5 + 3 487 c.354C>T c.(352-354)atC>atT p.I118I HKDC1_ENST00000395086.2_Silent_p.I118I NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 118 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CCAATGAAATCATCCGCGGGA 0.592000 14 81 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32911095 32911095 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:32911095C>T ENST00000544455.1 + 11 2830 c.2603C>T c.(2602-2604)aCt>aTt p.T868I BRCA2_ENST00000380152.3_Missense_Mutation_p.T868I NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 868 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GAAGAAACTACTTCAATTTCA 0.318000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 11 102 0 0 1 0 0 STX19 415117 broad.mit.edu 37 3 93733675 93733675 + Missense_Mutation SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:93733675T>C ENST00000315099.2 - 2 695 c.439A>G c.(439-441)Atc>Gtc p.I147V ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 147 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 ATAAACATGATTTGCTGAAAA 0.373000 20 159 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69250240 69250240 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:69250240G>C ENST00000551568.1 - 9 1369 c.1309C>G c.(1309-1311)Ctt>Gtt p.L437V CPM_ENST00000546373.1_Missense_Mutation_p.L437V|CPM_ENST00000338356.3_Missense_Mutation_p.L437V NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 437 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGTGCAAAAGACTCACTAAA 0.408000 12 76 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018586 143018586 + Splice_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:143018586G>C ENST00000343257.2 + 4 649 c.562G>C c.(562-564)Ggc>Cgc p.G188R CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 188 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCAGGCTGTTGGTGAGAACTT 0.632000 7 93 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937088 33937088 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:33937088G>A ENST00000330120.3 + 1 598 c.243G>A c.(241-243)cgG>cgA p.R81R NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 81 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CCCGGGTGCGGATTCTCATCA 0.687000 6 54 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64518723 64518723 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:64518723G>C ENST00000358025.3 + 48 8322 c.8092G>C c.(8092-8094)Gaa>Caa p.E2698Q SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E2698Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E2731Q NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2698 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGGAGAAAAAGAAAAGAAGAA 0.393000 13 45 0 0 1 0 0 SETD8 387893 broad.mit.edu 37 12 123889520 123889520 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:123889520C>G ENST00000402868.3 + 7 1173 c.747C>G c.(745-747)ctC>ctG p.L249L SETD8_ENST00000330479.4_Silent_p.L249L Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 290 cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACGGGGACCTCATCGAGATCA 0.537000 13 71 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118982025 118982025 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:118982025G>C ENST00000336702.3 + 6 1210 c.851G>C c.(850-852)aGa>aCa p.R284T C2CD2L_ENST00000528586.1_Missense_Mutation_p.R32T NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 284 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GCCATCCCCAGACCTAACCGG 0.562000 57 101 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42820680 42820680 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:42820680G>A ENST00000598766.1 + 9 766 c.766G>A c.(766-768)Gat>Aat p.D256N TMEM145_ENST00000301204.3_Missense_Mutation_p.D232N Q8NBT3 TM145_HUMAN transmembrane protein 145 232 L -> M (in dbSNP:rs7254227). integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ATATGCCACCGATGGCATTGG 0.547000 30 200 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64418927 64418927 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:64418927G>A ENST00000265459.6 - 14 3179 c.2718C>T c.(2716-2718)ctC>ctT p.L906L AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.L899L|NRXN2_ENST00000377559.3_Silent_p.L866L|NRXN2_ENST00000377551.1_Silent_p.L906L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 906 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGCGAGCATTGAGCTCACAGT 0.587000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 33 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5438044 5438044 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:5438044C>G ENST00000341928.2 - 6 935 c.595G>C c.(595-597)Gat>Cat p.D199H EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D199H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D199H|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D199H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D199H NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 199 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTGGTGATATCTTCAGATAGT 0.408000 6 21 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18210208 18210208 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:18210208G>A ENST00000321105.5 - 4 601 c.387C>T c.(385-387)atC>atT p.I129I TOP3A_ENST00000542570.1_Silent_p.I34I NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 129 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 ACCCTACCTTGATGTCTACAA 0.403000 17 41 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161494967 161494967 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:161494967G>A ENST00000309758.4 + 1 932 c.519G>A c.(517-519)cgG>cgA p.R173R RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 173 R -> P (in dbSNP:rs41297708). response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACGTGTTGCGGATCATCAATG 0.657000 13 26 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420688 49420688 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:49420688G>A ENST00000301067.7 - 48 15060 c.15061C>T c.(15061-15063)Cga>Tga p.R5021* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGTCAGGTCGCAAGGCTGTG 0.622000 12 76 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760197 20760197 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:20760197C>G ENST00000400451.2 + 5 1388 c.874C>G c.(874-876)Ctg>Gtg p.L292V ZNF74_ENST00000356671.5_Missense_Mutation_p.L292V|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.L260V NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 292 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CACCAACCTTCTGGAGCACCG 0.647000 11 78 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524927 187524927 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:187524927G>A ENST00000441802.2 - 19 10962 c.10753C>T c.(10753-10755)Cag>Tag p.Q3585* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3585 Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGTCCATCTGAGGGTCGAGA 0.488000 HNSCC(5;0.00058) 21 33 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49740124 49740124 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:49740124C>G ENST00000327697.6 + 20 1832 c.1688C>G c.(1687-1689)tCt>tGt p.S563C RNF123_ENST00000432042.1_Missense_Mutation_p.S417C NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 563 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CGGCTGATCTCTGCCCTGCGC 0.562000 86 191 0 0 1 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074277 46074277 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:46074277G>A ENST00000391618.1 - 1 299 c.255C>T c.(253-255)ttC>ttT p.F85F TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 85 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 AGGTTGGGCAGAAGGAAGCCA 0.632000 7 45 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19365559 19365559 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:19365559G>T ENST00000263208.5 - 14 1702 c.1446C>A c.(1444-1446)atC>atA p.I482I HIRA_ENST00000546308.1_Silent_p.I438I|HIRA_ENST00000340170.4_Silent_p.I482I|HIRA_ENST00000541063.1_Silent_p.I438I NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 482 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CCGAGAGGGGGATGCTGTTAA 0.522000 10 78 2.74318e-10 3.02829e-10 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51750971 51750971 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:51750971G>A ENST00000251076.5 - 34 8232 c.7945C>T c.(7945-7947)Cca>Tca p.P2649S RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2650S|DMXL2_ENST00000449909.3_Missense_Mutation_p.P2013S|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2649 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTCCACCTGGATAGCCCAGA 0.373000 16 58 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350709 89350709 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:89350709C>T ENST00000301030.4 - 9 2701 c.2241G>A c.(2239-2241)tcG>tcA p.S747S ANKRD11_ENST00000378330.2_Silent_p.S747S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 747 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTCCTTCAGCGATCTCTCCT 0.393000 14 84 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31600295 31600295 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:31600295C>A ENST00000376033.2 + 16 4079 c.3845C>A c.(3844-3846)tCc>tAc p.S1282Y PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1282Y NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1282 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTTCCAGCCTCCGCTCCTGGA 0.622000 13 54 5.50884e-06 5.89911e-06 1 1 0 KCNA2 3737 broad.mit.edu 37 1 111147017 111147017 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:111147017C>T ENST00000485317.1 - 3 1061 c.388G>A c.(388-390)Gaa>Aaa p.E130K KCNA2_ENST00000316361.4_Missense_Mutation_p.E130K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E130K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E130K|KCNA2_ENST00000525120.1_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 130 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATGTAGCCTTCATCTTCCCGA 0.483000 12 20 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68265217 68265217 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:68265217C>T ENST00000347230.4 - 11 1900 c.1762G>A c.(1762-1764)Gat>Aat p.D588N ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D588N NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 588 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGGTGAAGATCAGCAGAGGTG 0.517000 19 29 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540591 187540591 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:187540591G>C ENST00000441802.2 - 10 7358 c.7149C>G c.(7147-7149)ctC>ctG p.L2383L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2383 Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATTATCATTGAGGTCGGTAA 0.502000 HNSCC(5;0.00058) 11 82 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57062286 57062286 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:57062286G>A ENST00000436936.1 + 8 2457 c.2232G>A c.(2230-2232)ctG>ctA p.L744L NLRC5_ENST00000539144.1_Silent_p.L744L|NLRC5_ENST00000262510.6_Silent_p.L744L|NLRC5_ENST00000308149.7_Silent_p.L744L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 744 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GTCCACAGCTGAAAGAAGTCA 0.562000 16 69 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23710892 23710892 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:23710892C>T ENST00000450454.2 - 10 1091 c.985G>A c.(985-987)Gat>Aat p.D329N NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 329 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) ATGGGCTCATCAGCACTGCGT 0.493000 13 83 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24586196 24586196 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:24586196G>C ENST00000446197.3 + 3 953 c.226G>C c.(226-228)Gag>Cag p.E76Q DCAF11_ENST00000396941.4_Missense_Mutation_p.E50Q|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.E76Q|DCAF11_ENST00000396936.1_5'UTR NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 76 CUL4 RING ubiquitin ligase complex protein binding CTTGGACTCAGAGGAAGAGAA 0.493000 12 57 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10531484 10531484 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:10531484C>T ENST00000352831.6 + 1 154 c.44C>T c.(43-45)tCa>tTa p.S15L PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron NM_001111307.1 NP_001104777.1 P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 15 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CTGTCTCTGTCACTGCCCGGG 0.736000 3 10 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151921139 151921139 + Missense_Mutation SNP C C G rs141226447 byFrequency TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:151921139C>G ENST00000355193.2 - 20 3502 c.3284G>C c.(3283-3285)aGa>aCa p.R1095T KMT2C_ENST00000262189.6_Missense_Mutation_p.R1095T lysine (K)-specific methyltransferase 2C ATCTTCTTCTCTATAGTTTCG 0.363000 44 44 0 0 1 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22555189 22555189 + RNA SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:22555189C>G ENST00000390451.2 + 0 360 cattgCATATCATGGATTCCC 0.478000 9 13 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748790 126748790 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:126748790G>C ENST00000251772.4 + 27 4944 c.4875G>C c.(4873-4875)gaG>gaC p.E1625D PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1648D Q9UIW2 PLXA1_HUMAN plexin A1 1648 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCGACCTGGAGAGCGGCACCA 0.667000 12 45 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844975 248844975 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:248844975G>C ENST00000342623.3 - 1 654 c.631C>G c.(631-633)Ctc>Gtc p.L211V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 ATCATCATGAGAATAAAGCAT 0.493000 12 86 0 0 1 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115132 27115132 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:27115132G>A ENST00000377459.1 + 1 272 c.225G>A c.(223-225)aaG>aaA p.K75K NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 75 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 GCGACAACAAGAAGACCCGTA 0.637000 17 109 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28654751 28654751 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:28654751C>T ENST00000280904.6 - 12 2229 c.1786G>A c.(1786-1788)Gcg>Acg p.A596T DSC2_ENST00000251081.6_Missense_Mutation_p.A596T NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 596 Cadherin 5. A -> V. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GGATCAACCGCAACAATCTCC 0.438000 12 41 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132624720 132624720 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:132624720C>T ENST00000397333.3 - 12 1736 c.1698G>A c.(1696-1698)gcG>gcA p.A566A NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 566 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CGATGCCTCGCGCGGTGGCGT 0.711000 4 73 0 0 1 0 0 OR8G5 219865 broad.mit.edu 37 11 124135521 124135521 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:124135521G>A ENST00000524943.2 + 1 799 c.799G>A c.(799-801)Gag>Aag p.E267K OR8G1_ENST00000341493.2_RNA NM_001005198.1 NP_001005198.1 olfactory receptor, family 8, subfamily G, member 5 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523) TCGCTACACTGAGGGCAGGTC 0.488000 15 104 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58124279 58124279 + Splice_Site SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:58124279C>T ENST00000257897.3 - 12 1504 c.1419G>A c.(1417-1419)acG>acA p.T473T AGAP2_ENST00000547588.1_Splice_Site_p.T809T NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 809 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.T809T(1)|p.T473T(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCCACTGACCCGTGCTGAGGG 0.562000 134 219 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3977234 3977234 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:3977234G>A ENST00000309311.6 - 14 2450 c.2362C>T c.(2362-2364)Ctg>Ttg p.L788L NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 788 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TTGACGGGCAGATAGGCCTTG 0.617000 6 16 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181968 128181968 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:128181968C>T ENST00000469083.1 - 2 2678 c.121G>A c.(121-123)Gag>Aag p.E41K DNAJB8_ENST00000319153.3_Missense_Mutation_p.E41K Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 41 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TTCTCCGCCTCCTCCTTATTG 0.592000 42 118 0 0 1 0 0 CCNC 892 broad.mit.edu 37 6 100009278 100009278 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:100009278C>T ENST00000520429.1 - 4 704 c.259G>A c.(259-261)Gct>Act p.A87T CCNC_ENST00000518714.1_Missense_Mutation_p.A87T|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000523985.1_Missense_Mutation_p.A2T|CCNC_ENST00000520371.1_Missense_Mutation_p.A87T|CCNC_ENST00000523799.1_Missense_Mutation_p.A2T|CCNC_ENST00000482541.2_Missense_Mutation_p.A87T|CCNC_ENST00000369220.4_Missense_Mutation_p.A87T NM_001013399.1|NM_005190.3 NP_001013417.1|NP_005181.2 P24863 CCNC_HUMAN cyclin C 87 Cyclin N-terminal. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme protein kinase binding all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.064) CATGTAGGAGCCATTAATACA 0.318000 24 70 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77924770 77924770 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:77924770G>A ENST00000529308.1 + 11 3229 c.2968G>A c.(2968-2970)Gat>Aat p.D990N USP35_ENST00000441408.2_Missense_Mutation_p.D576N|USP35_ENST00000530267.1_Missense_Mutation_p.D558N|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D721N NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 990 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GAGGGGCTTTGATGAAGACAA 0.587000 10 39 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24169144 24169144 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:24169144C>T ENST00000396671.2 - 10 1338 c.990G>A c.(988-990)ttG>ttA p.L330L THRB_ENST00000356447.4_Silent_p.L330L|THRB_ENST00000416420.1_Silent_p.L330L|THRB_ENST00000280696.5_Silent_p.L345L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 330 Interaction with NR2F6.|Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TTTCCCCATTCAAGGTTAAAG 0.527000 50 101 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688370 107688370 + Missense_Mutation SNP G G A rs140847960 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:107688370G>A ENST00000388781.3 - 28 4392 c.4309C>T c.(4309-4311)Cgt>Tgt p.R1437C LAMB4_ENST00000388780.3_Missense_Mutation_p.R1437C|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1437C NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1437 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTCAACCCACGAACCTGTTTG 0.403000 24 136 0 0 1 0 0 TCF7 6932 broad.mit.edu 37 5 133473792 133473792 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:133473792C>T ENST00000395029.1 + 4 679 c.484C>T c.(484-486)Ctc>Ttc p.L162F TCF7_ENST00000342854.5_Missense_Mutation_p.L162F|TCF7_ENST00000432532.2_Missense_Mutation_p.L47F|TCF7_ENST00000520958.1_Missense_Mutation_p.L47F|TCF7_ENST00000378564.1_Missense_Mutation_p.L162F|TCF7_ENST00000321603.6_Missense_Mutation_p.L162F|TCF7_ENST00000321584.4_Missense_Mutation_p.L162F|TCF7_ENST00000518915.1_Missense_Mutation_p.L47F|TCF7_ENST00000395023.1_Missense_Mutation_p.L47F|TCF7_ENST00000378560.4_Missense_Mutation_p.L47F P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 162 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAACTCTCTCTCTACGAACA 0.587000 9 49 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 368979 368979 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:368979C>A ENST00000436453.1 - 2 292 c.240G>T c.(238-240)ctG>ctT p.L80L SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron NM_001243392.1 NP_001230321.1 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 0 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATCCTCCTTCCAGGAGTGGGT 0.532000 9 91 0.000274275 0.000286295 1 1 0 DICER1 23405 broad.mit.edu 37 14 95596491 95596491 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:95596491C>G ENST00000526495.1 - 7 768 c.477G>C c.(475-477)ttG>ttC p.L159F DICER1_ENST00000343455.3_Missense_Mutation_p.L159F|DICER1_ENST00000541352.1_Missense_Mutation_p.L159F|DICER1_ENST00000393063.1_Missense_Mutation_p.L159F|DICER1_ENST00000527414.1_Missense_Mutation_p.L159F Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 159 Helicase ATP-binding. 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 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) AACCATTTTTCAAAACATTCA 0.348000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 7 41 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75115901 75115901 + Splice_Site SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75115901G>A ENST00000309664.5 + 12 1340 c.1201G>A c.(1201-1203)Gat>Aat p.D401N LMAN1L_ENST00000379709.3_Splice_Site_p.D389N|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 401 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding p.D401N(1) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCGGTTAGGGATGCAGCTGT 0.552000 3 35 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98766408 98766408 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:98766408C>G ENST00000266058.4 - 32 3656 c.3411G>C c.(3409-3411)caG>caC p.Q1137H ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q1137H NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1137 EGF-like 6. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGGCCCCATTCTGGCACTCAG 0.597000 5 26 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41105033 41105033 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:41105033G>A ENST00000355341.4 + 7 1464 c.963G>A c.(961-963)acG>acA p.T321T ZFYVE19_ENST00000570108.1_Silent_p.T298T|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000564258.1_Silent_p.T146T|ZFYVE19_ENST00000336455.5_Silent_p.T311T NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 321 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGGAGAACACGAGGCAGGAAC 0.612000 17 60 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13672265 13672265 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:13672265G>C ENST00000378572.3 + 10 1114 c.954G>C c.(952-954)ttG>ttC p.L318F NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 318 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CTTAGGGATTGAAGAGGTTAA 0.388000 15 132 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158924856 158924856 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:158924856G>C ENST00000367097.3 + 13 5518 c.4161G>C c.(4159-4161)caG>caC p.Q1387H TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1387 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TGAAGAGTCAGAAAGACCAAC 0.488000 9 20 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946348 46946348 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:46946348G>C ENST00000429979.1 - 3 867 c.263C>G c.(262-264)tCa>tGa p.S88* KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Nonsense_Mutation_p.S88*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.S88*|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.S88*|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.S88* NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 88 Ser-rich. NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TGAAGGGCCTGAGGGAGAGGC 0.597000 6 89 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 61 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681570 55681570 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:55681570G>T ENST00000344514.1 - 1 488 c.489C>A c.(487-489)gcC>gcA p.A163A NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 163 A -> P (in dbSNP:rs17148883). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATAGGCGGAAGGCCAGTGTCA 0.433000 8 84 0.000157383 0.000164499 1 1 0 SMG8 55181 broad.mit.edu 37 17 57288157 57288157 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:57288157C>G ENST00000543872.2 + 2 1009 c.745C>G c.(745-747)Cca>Gca p.P249A SMG8_ENST00000578922.1_Missense_Mutation_p.P249A|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.P249A|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 249 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TAAGGATTGTCCAGTTGGCAA 0.488000 22 65 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014080 127014080 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:127014080G>C ENST00000393313.1 - 5 1901 c.1310C>G c.(1309-1311)tCa>tGa p.S437* ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S437*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S437* Q2TB10 ZN800_HUMAN zinc finger protein 800 437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TTTTTCATTTGAATGATTTGT 0.398000 21 102 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30544249 30544249 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:30544249C>G ENST00000569360.1 - 3 736 c.564G>C c.(562-564)aaG>aaC p.K188N ZNF747_ENST00000568028.1_Missense_Mutation_p.K188N|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.K188N Q9BV97 ZN747_HUMAN zinc finger protein 747 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 AGGCGAAGCTCTTCCCGCACA 0.672000 3 12 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7907868 7907868 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:7907868C>G ENST00000377516.2 - 5 653 c.333G>C c.(331-333)aaG>aaC p.K111N UTS2_ENST00000054668.5_Missense_Mutation_p.K126N|UTS2_ENST00000361696.5_Missense_Mutation_p.K111N O95399 UTS2_HUMAN urotensin 2 111 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) TCTCACGTTTCTTGTATGGTT 0.373000 24 114 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110399113 110399113 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:110399113G>C ENST00000360185.4 - 11 1121 c.957C>G c.(955-957)gtC>gtG p.V319V GIT2_ENST00000356259.4_Silent_p.V319V|GIT2_ENST00000457474.2_Silent_p.V321V|GIT2_ENST00000343646.5_Silent_p.V319V|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000320063.9_Silent_p.V319V|GIT2_ENST00000355312.3_Silent_p.V319V|GIT2_ENST00000338373.5_Silent_p.V319V|GIT2_ENST00000551209.1_Silent_p.V318V|GIT2_ENST00000553118.1_Silent_p.V319V|GIT2_ENST00000361006.5_Silent_p.V319V|GIT2_ENST00000354574.4_Silent_p.V321V|GIT2_ENST00000547815.1_Silent_p.V319V NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 319 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 ACTCAGGATTGACCGGAAGAA 0.498000 17 31 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52774034 52774034 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:52774034C>G ENST00000216862.3 - 10 1720 c.1327G>C c.(1327-1329)Gag>Cag p.E443Q CYP24A1_ENST00000395954.3_Missense_Mutation_p.E301Q|CYP24A1_ENST00000395955.3_Intron NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 443 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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 breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTTTCCTTCTCCTGAAGCCAA 0.423000 11 130 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137506827 137506827 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:137506827C>G ENST00000254900.5 - 5 630 c.259G>C c.(259-261)Gaa>Caa p.E87Q BRD8_ENST00000402931.1_Missense_Mutation_p.E87Q|BRD8_ENST00000455658.2_Missense_Mutation_p.E46Q|BRD8_ENST00000411594.2_Missense_Mutation_p.E87Q|BRD8_ENST00000230901.5_Missense_Mutation_p.E87Q NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 87 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCCACCACTTCTCCCTTTTCA 0.363000 15 60 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73811302 73811302 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:73811302G>T ENST00000293218.3 + 8 1157 c.1157G>T c.(1156-1158)cGa>cTa p.R386L UNK_ENST00000589666.1_Missense_Mutation_p.R310L Q9C0B0 UNK_HUMAN unkempt family zinc finger 310 nucleic acid binding|zinc ion binding p.R310L(1)|p.R386L(1) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTGTCCCCGAGGACCCTTC 0.637000 11 138 1.58986e-06 1.71417e-06 1 1 0 FGB 2244 broad.mit.edu 37 4 155487089 155487089 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:155487089C>G ENST00000302068.4 + 2 307 c.244C>G c.(244-246)Caa>Gaa p.Q82E FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 82 Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGCTGCCACTCAAAAGAAAGT 0.577000 12 36 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744149 98744149 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:98744149G>C ENST00000286067.2 + 1 3109 c.3002G>C c.(3001-3003)aGa>aCa p.R1001T NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1001 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CGGATTCTTAGAAAATATTCC 0.468000 3 82 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76344739 76344739 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:76344739C>G ENST00000263187.3 + 12 1707 c.1603C>G c.(1603-1605)Cga>Gga p.R535G NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 535 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TAGCTCTGCTCGAGGATTTTT 0.343000 Mismatch excision repair (MMR) 7 60 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81239618 81239618 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:81239618C>T ENST00000552864.1 - 4 576 c.374G>A c.(373-375)gGa>gAa p.G125E NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 125 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TTGCTCCTTTCCTCCCATCAC 0.498000 15 56 0 0 1 0 0 NEK7 140609 broad.mit.edu 37 1 198262152 198262152 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:198262152G>A ENST00000367385.4 + 8 1009 c.667G>A c.(667-669)Ggc>Agc p.G223S NEK7_ENST00000538004.1_Missense_Mutation_p.G223S NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 223 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 CTGGTCTCTTGGCTGTCTACT 0.318000 38 149 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28913402 28913402 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:28913402C>T ENST00000395503.4 + 16 2503 c.2319C>T c.(2317-2319)gtC>gtT p.V773V ATP2A1_ENST00000536376.1_Silent_p.V648V|ATP2A1_ENST00000357084.3_Silent_p.V773V NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 773 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GCGAGGTGGTCTGGTGAGCAG 0.622000 7 33 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33068523 33068523 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:33068523C>G ENST00000286835.7 - 9 1353 c.971G>C c.(970-972)gGa>gCa p.G324A SCAF4_ENST00000434667.3_Missense_Mutation_p.G309A|SCAF4_ENST00000399804.1_Missense_Mutation_p.G324A NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 324 nucleus nucleotide binding|RNA binding p.G324V(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CATGCCATCTCCAGGAAAGCC 0.423000 26 105 0 0 1 0 0 ING2 3622 broad.mit.edu 37 4 184431485 184431485 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:184431485G>A ENST00000302327.3 + 2 425 c.223G>A c.(223-225)Gat>Aat p.D75N ING2_ENST00000434682.2_Missense_Mutation_p.D35N NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 75 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GAAAGAAGATGATTTAAACCA 0.323000 68 92 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75929431 75929431 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:75929431C>G ENST00000321027.3 - 3 646 c.513G>C c.(511-513)aaG>aaC p.K171N GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000470503.1_Missense_Mutation_p.K171N|GCFC2_ENST00000541687.1_Missense_Mutation_p.K171N NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 171 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K171K(1) CGCTCTCTCTCTTCATACCAG 0.453000 50 54 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681608 40681608 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:40681608C>A ENST00000302472.3 + 2 1537 c.513C>A c.(511-513)ttC>ttA p.F171L PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 171 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCTGGTGCTTCATCGACTGGA 0.607000 11 46 1.08611e-07 1.17587e-07 1 1 0 NOTCH4 4855 broad.mit.edu 37 6 32169124 32169124 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:32169124C>A ENST00000375023.3 - 22 4047 c.3909G>T c.(3907-3909)ctG>ctT p.L1303L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1303 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTGGGGGGCTCAGTACCACCA 0.642000 8 26 0.00307968 0.00314776 1 1 0 SLC41A2 84102 broad.mit.edu 37 12 105282953 105282953 + Silent SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:105282953A>T ENST00000258538.3 - 4 865 c.738T>A c.(736-738)gtT>gtA p.V246V NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 246 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 CTGTTGCCTGAACCTAAAATT 0.308000 10 53 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157669493 157669493 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:157669493C>G ENST00000368184.3 - 3 332 c.41G>C c.(40-42)aGa>aCa p.R14T FCRL3_ENST00000368186.5_Missense_Mutation_p.R14T NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 14 integral to membrane|plasma membrane receptor activity p.R14K(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TGATTGTTCTCTTCCAGGAGC 0.478000 5 43 0 0 1 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20239263 20239263 + RNA SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:20239263C>T ENST00000340196.4 + 0 687 AGTCAGCAACCAAAGAACTGG 0.428000 37 72 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110432815 110432815 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:110432815G>A ENST00000506538.2 + 3 970 c.397G>A c.(397-399)Gat>Aat p.D133N WDR36_ENST00000505303.1_Missense_Mutation_p.D77N|WDR36_ENST00000513710.2_Missense_Mutation_p.D133N NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 133 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) TATGGCAGCTGATGGCAGATT 0.373000 11 64 0 0 1 0 0 HIST1H3F 8968 broad.mit.edu 37 6 26250797 26250797 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:26250797C>T ENST00000446824.2 - 1 38 c.37G>A c.(37-39)Ggc>Agc p.G13S NM_021018.2 NP_066298.1 P68431 H31_HUMAN histone cluster 1, H3f 13 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding lung(6)|urinary_tract(1) 7 GCTTTGCCGCCAGTGGACTTA 0.557000 7 70 0 0 1 0 0 DBNDD2 55861 broad.mit.edu 37 20 44037124 44037124 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:44037124G>A ENST00000372712.2 + 2 598 c.17G>A c.(16-18)cGg>cAg p.R6Q SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R6Q|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R6Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R108Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R6Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R6Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R104Q|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R6Q Q9BQY9 DBND2_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 2 104 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) CCAAATCCTCGGGCCGCCCTG 0.572000 11 122 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103453263 103453263 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:103453263C>A ENST00000358392.2 - 30 2781 c.2464G>T c.(2464-2466)Gat>Tat p.D822Y COL11A1_ENST00000353414.4_Missense_Mutation_p.D771Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.D810Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D694Y NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 810 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.D822Y(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCAGGGCCATCTTCCCCTCTT 0.458000 11 38 2.27111e-07 2.45205e-07 1 1 0 AOX1 316 broad.mit.edu 37 2 201503027 201503027 + Splice_Site SNP T T A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:201503027T>A ENST00000374700.2 + 23 2809 c.e23+2 AOX1_ENST00000485106.1_Splice_Site NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAGTACAAAGTGAGTACAAGA 0.468000 17 39 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39373966 39373966 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:39373966C>T ENST00000326306.4 + 2 282 c.144C>T c.(142-144)ttC>ttT p.F48F CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 48 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TGTTTGTATTCAGTCTTCTGG 0.483000 41 137 0 0 1 0 0 METAP1 23173 broad.mit.edu 37 4 99960563 99960563 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:99960563C>G ENST00000296411.6 + 5 513 c.379C>G c.(379-381)Cag>Gag p.Q127E METAP1_ENST00000544031.1_Missense_Mutation_p.Q77E NM_015143.2 NP_055958.2 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 127 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) AGGTACTTCTCAGATTAAATT 0.353000 23 65 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34091626 34091626 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:34091626G>C ENST00000397527.1 + 30 6149 c.5429G>C c.(5428-5430)aGa>aCa p.R1810T CEP250_ENST00000342580.4_Missense_Mutation_p.R1754T NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1810 Gln/Glu-rich. 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 p.R1810T(1) 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) GAGGCCCAGAGAGCCCTAGCC 0.597000 9 69 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656696 19656696 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:19656696C>T ENST00000586018.1 + 8 3462 c.3360C>T c.(3358-3360)ctC>ctT p.L1120L CILP2_ENST00000291495.5_Silent_p.L1114L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1114 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GACCCAGCCTCTTCCAGAGGC 0.672000 4 19 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982343 57982343 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:57982343C>A ENST00000309433.6 + 1 127 c.127C>A c.(127-129)Ctt>Att p.L43I NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CCTCTTTGTGCTTTTCTTGGG 0.453000 8 193 1.06961e-07 1.15961e-07 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128990083 128990083 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:128990083G>C ENST00000274487.4 + 14 2388 c.2243G>C c.(2242-2244)tGt>tCt p.C748S CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 748 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGAACTTCTTGTGGCTATCAG 0.383000 13 68 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56079010 56079010 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:56079010C>T ENST00000416613.1 + 1 316 c.244C>T c.(244-246)Cga>Tga p.R82* KTN1_ENST00000395311.1_Nonsense_Mutation_p.R82*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.R82*|KTN1_ENST00000395314.3_Nonsense_Mutation_p.R82*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.R82*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.R82*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.R82* Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 82 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GAGTGTACCTCGAGACTTTAA 0.363000 T RET papillary thryoid 27 50 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17919112 17919112 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:17919112G>T ENST00000318683.6 + 2 643 c.496G>T c.(496-498)Gag>Tag p.E166* B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.E166* NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 166 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GCTGGAGCTGGAGGCACAGAC 0.642000 11 48 7.03913e-09 7.69507e-09 1 1 0 SMURF2 64750 broad.mit.edu 37 17 62553750 62553750 + Silent SNP G G T rs137921988 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:62553750G>T ENST00000262435.9 - 13 1594 c.1407C>A c.(1405-1407)atC>atA p.I469I NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 469 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) AATCAGGATTGATCTGCAATG 0.323000 26 59 1.2476e-16 1.41912e-16 1 1 0 TTC30A 92104 broad.mit.edu 37 2 178483360 178483360 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:178483360C>A ENST00000355689.5 - 1 334 c.70G>T c.(70-72)Gat>Tat p.D24Y NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TAGCGGGCATCGCGGATGAGC 0.672000 7 13 5.18039e-06 5.55496e-06 1 1 0 MAN2B1 4125 broad.mit.edu 37 19 12758381 12758381 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:12758381G>A ENST00000456935.2 - 22 2736 c.2696C>T c.(2695-2697)tCg>tTg p.S899L MAN2B1_ENST00000221363.4_Missense_Mutation_p.S898L|CTD-2192J16.22_ENST00000597692.1_Silent_p.L85L NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 899 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAGGTGCACCGAGGGCGGCAG 0.692000 6 46 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321350 78321350 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:78321350C>G ENST00000582970.1 + 29 9358 c.9215C>G c.(9214-9216)tCt>tGt p.S3072C RNF213_ENST00000508628.2_Missense_Mutation_p.S3121C|RNF213_ENST00000336301.6_Missense_Mutation_p.S1145C NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATTTTTGGTTCTGGTTTCCCC 0.507000 15 80 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321932 78321932 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:78321932C>T ENST00000582970.1 + 29 9940 c.9797C>T c.(9796-9798)gCc>gTc p.A3266V RNF213_ENST00000508628.2_Missense_Mutation_p.A3315V|RNF213_ENST00000336301.6_Missense_Mutation_p.A1339V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACGCCCGATGCCGTGGTCCGG 0.607000 11 61 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83772709 83772709 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:83772709G>C ENST00000432794.1 - 19 2366 c.2203C>G c.(2203-2205)Caa>Gaa p.Q735E SEC31A_ENST00000508479.1_Missense_Mutation_p.Q735E|SEC31A_ENST00000505984.1_Missense_Mutation_p.Q696E|SEC31A_ENST00000348405.4_Missense_Mutation_p.Q696E|SEC31A_ENST00000395310.2_Missense_Mutation_p.Q735E|SEC31A_ENST00000443462.2_Missense_Mutation_p.Q730E|SEC31A_ENST00000326950.5_Missense_Mutation_p.Q696E|SEC31A_ENST00000513858.1_Missense_Mutation_p.Q696E|SEC31A_ENST00000311785.7_Missense_Mutation_p.Q735E|SEC31A_ENST00000500777.2_Missense_Mutation_p.Q696E|SEC31A_ENST00000509142.1_Missense_Mutation_p.Q735E|SEC31A_ENST00000448323.1_Missense_Mutation_p.Q735E|SEC31A_ENST00000264405.5_Missense_Mutation_p.Q468E|SEC31A_ENST00000505472.1_Missense_Mutation_p.Q735E|SEC31A_ENST00000355196.2_Missense_Mutation_p.Q735E|SEC31A_ENST00000508502.1_Missense_Mutation_p.Q735E O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 735 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TCCATGGCTTGAGTGAGTTGC 0.438000 17 38 0 0 1 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61909518 61909518 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:61909518G>C ENST00000370275.4 + 6 585 c.493G>C c.(493-495)Gaa>Caa p.E165Q ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E52Q|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E165Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E112Q|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E165Q|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E91Q NM_001281482.1 NP_001268411.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 165 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) CAAGGCTTTTGAAGACTGGCT 0.587000 7 130 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31916735 31916735 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:31916735G>A ENST00000456570.1 + 20 2726 c.2671G>A c.(2671-2673)Gat>Aat p.D891N CFB_ENST00000477310.1_Missense_Mutation_p.D740N|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.D891N|CFB_ENST00000425368.2_Missense_Mutation_p.D389N P00751 CFAB_HUMAN complement factor B 389 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTCATGACTGATGGTCAGAA 0.572000 13 54 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151878184 151878184 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:151878184G>A ENST00000355193.2 - 36 6979 c.6761C>T c.(6760-6762)gCa>gTa p.A2254V KMT2C_ENST00000262189.6_Missense_Mutation_p.A2254V lysine (K)-specific methyltransferase 2C TCGGTTTTGTGCTGCTTGCAG 0.522000 11 75 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845225 248845225 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:248845225G>T ENST00000342623.3 - 1 404 c.381C>A c.(379-381)ccC>ccA p.P127P NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TGTATTGGAGGGGGTGGCAAA 0.522000 21 31 3.51602e-12 3.94798e-12 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73750888 73750888 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:73750888C>A ENST00000200181.3 + 34 4737 c.4550C>A c.(4549-4551)tCc>tAc p.S1517Y ITGB4_ENST00000579662.1_Missense_Mutation_p.S1447Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1447Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1447Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1447Y|GALK1_ENST00000225614.2_Intron NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1517 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCTCCGTCTCCTCCCACGGT 0.617000 9 43 0.00621372 0.00631822 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27549623 27549623 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:27549623C>T ENST00000356183.4 - 3 501 c.486G>A c.(484-486)ttG>ttA p.L162L GTF3C1_ENST00000561623.1_Silent_p.L162L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 162 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCTGGCCTATCAAGGCCCTGT 0.562000 11 77 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 404928 404928 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:404928C>G ENST00000399788.2 - 26 4628 c.4266G>C c.(4264-4266)aaG>aaC p.K1422N KDM5A_ENST00000382815.4_Missense_Mutation_p.K1422N NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1422 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CCAAAGGGCTCTTCCGAGGTT 0.433000 T NUP98 AML 21 146 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629576 118629576 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:118629576C>T ENST00000336338.5 - 11 1480 c.1415G>A c.(1414-1416)aGa>aAa p.R472K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 472 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCCGTCTGCTCTGGGGGATGG 0.522000 20 133 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 4 53 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715548 101715548 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:101715548C>T ENST00000342239.3 - 4 1774 c.1683G>A c.(1681-1683)aaG>aaA p.K561K DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.K561K Q6XZF7 DNMBP_HUMAN dynamin binding protein 561 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTGCCAAGCTCTTCTCAAACT 0.493000 18 78 0 0 1 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154525255 154525255 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:154525255C>T ENST00000292211.4 - 6 850 c.771G>A c.(769-771)atG>atA p.M257I UBE2Q1_ENST00000497453.1_5'UTR NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 257 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGAGCTCCTTCATCAGCCGGT 0.532000 19 80 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96312674 96312674 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:96312674C>T ENST00000344280.3 - 3 675 c.118G>A c.(118-120)Gaa>Aaa p.E40K NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 40 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTGCCATTTCATTTTCTTTG 0.338000 11 99 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142150446 142150446 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:142150446C>T ENST00000378004.3 + 1 475 c.120C>T c.(118-120)atC>atT p.I40I ARHGAP26_ENST00000274498.4_Silent_p.I40I NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 40 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGAGCTCATCAAGGACGGGA 0.602000 4 28 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 103 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229713 140229713 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140229713C>A ENST00000378122.3 + 1 2357 c.1633C>A c.(1633-1635)Ctg>Atg p.L545M PCDHA9_ENST00000532602.1_Missense_Mutation_p.L545M|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCCGCCTCTGGGCAGCAA 0.682000 27 134 3.73988e-18 4.26021e-18 1 1 0 OTOP3 347741 broad.mit.edu 37 17 72938033 72938033 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:72938033C>T ENST00000328801.4 + 3 528 c.528C>T c.(526-528)ctC>ctT p.L176L NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 176 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCTTCTGCCTCAACATCTTCC 0.622000 14 26 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32108385 32108385 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:32108385C>G ENST00000327423.6 - 4 5629 c.5440G>C c.(5440-5442)Gac>Cac p.D1814H PRR14L_ENST00000397493.2_Missense_Mutation_p.D1814H|PRR14L_ENST00000434485.1_Missense_Mutation_p.D1814H NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1814 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 ACAGAGCAGTCTGCTCTGGTC 0.547000 8 14 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89616100 89616100 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:89616100C>T ENST00000369485.4 - 5 613 c.427G>A c.(427-429)Gag>Aag p.E143K RNGTT_ENST00000369475.3_Missense_Mutation_p.E143K|RNGTT_ENST00000265607.6_Missense_Mutation_p.E143K|RNGTT_ENST00000538899.1_Missense_Mutation_p.E83K NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 143 TPase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TCCATTTTCTCCACCAAAAAG 0.299000 3 38 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298745 107298745 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:107298745G>C ENST00000374781.2 - 1 392 c.350C>G c.(349-351)tCa>tGa p.S117* NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TCTTTTCTTTGAGATTAAGCT 0.433000 26 65 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51758035 51758035 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:51758035C>G ENST00000543196.2 - 5 1124 c.919G>C c.(919-921)Gag>Cag p.E307Q GALNT6_ENST00000356317.3_Missense_Mutation_p.E307Q Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 307 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGGCGAACTCAAAAGTATTA 0.577000 8 51 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24908758 24908758 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:24908758G>A ENST00000396432.2 - 9 2552 c.2066C>T c.(2065-2067)tCt>tTt p.S689F ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S476F NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 688 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AGGCTTGGCAGAGGCTCCAGA 0.483000 7 86 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66396385 66396385 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:66396385G>A ENST00000404260.3 + 8 1352 c.1044G>A c.(1042-1044)agG>agA p.R348R MAST4_ENST00000405643.1_Silent_p.R166R|MAST4_ENST00000403666.1_Silent_p.R156R|MAST4_ENST00000261569.7_Silent_p.R151R|MAST4_ENST00000490016.2_Silent_p.R156R|MAST4_ENST00000403625.2_Silent_p.R345R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 348 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACAGATGCAGGAACACGCCGA 0.463000 15 67 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99314828 99314828 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:99314828C>G ENST00000336374.2 - 6 495 c.493G>C c.(493-495)Gag>Cag p.E165Q NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 165 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TTGCCTGTCTCTGCTTCCCGC 0.507000 13 91 0 0 1 0 0 RP4-583P15.15 0 broad.mit.edu 37 20 62366548 62366548 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:62366548C>G ENST00000490623.2 + 5 746 c.746C>G c.(745-747)tCc>tGc p.S249C ZGPAT_ENST00000355969.6_Missense_Mutation_p.I343M|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I343M|ZGPAT_ENST00000448100.2_Missense_Mutation_p.I343M|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I334M|ZGPAT_ENST00000328969.5_Missense_Mutation_p.I363M TGGAGCCCATCCATGCTGTGG 0.667000 3 22 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77862308 77862308 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:77862308G>C ENST00000407578.2 - 3 848 c.582C>G c.(580-582)atC>atG p.I194M MYCBP2_ENST00000544440.2_Missense_Mutation_p.I156M|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I156M|MYCBP2_ENST00000360084.5_De_novo_Start_InFrame NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGGAAGCTTGATAGGGGGCT 0.403000 19 125 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127670979 127670979 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:127670979C>G ENST00000508053.1 - 36 4830 c.3856G>C c.(3856-3858)Gaa>Caa p.E1286Q FBN2_ENST00000262464.4_Missense_Mutation_p.E1286Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E1253Q|FBN2_ENST00000507835.1_Missense_Mutation_p.E136Q P35556 FBN2_HUMAN fibrillin 2 1286 EGF-like 20; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTTTCACATTCATCAATGTCT 0.383000 8 60 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43154764 43154764 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:43154764G>C ENST00000252050.4 + 5 1402 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q CUL9_ENST00000372647.2_Missense_Mutation_p.E440Q|CUL9_ENST00000354495.3_Intron NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 440 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCTGGGCCCTGAGGAAGCCAC 0.567000 13 21 0 0 1 0 0 GCDH 2639 broad.mit.edu 37 19 13007149 13007149 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:13007149C>T ENST00000222214.5 + 8 977 c.766C>T c.(766-768)Ctg>Ttg p.L256L GCDH_ENST00000422947.2_Silent_p.L212L|GCDH_ENST00000457854.1_Silent_p.L256L|GCDH_ENST00000591470.1_Silent_p.L256L Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 256 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CAAGTTCTCGCTGCGGGCCTC 0.627000 11 40 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107592559 107592559 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:107592559C>G ENST00000393561.1 - 21 3445 c.3261G>C c.(3259-3261)caG>caC p.Q1087H LAMB1_ENST00000222399.6_Missense_Mutation_p.Q1063H P07942 LAMB1_HUMAN laminin, beta 1 1063 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTCACAGTTCTGCCCGATCA 0.567000 4 23 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104160055 104160055 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:104160055G>C ENST00000369966.3 + 16 1855 c.1605G>C c.(1603-1605)gtG>gtC p.V535V NFKB2_ENST00000428099.1_Silent_p.V535V|NFKB2_ENST00000189444.6_Silent_p.V535V NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 535 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) ACCTGGCGGTGATCACGGGGC 0.662000 T IGH@ B-NHL 14 56 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132480 49132480 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:49132480C>T ENST00000443164.1 + 5 2306 c.1601C>T c.(1600-1602)tCt>tTt p.S534F SPHK2_ENST00000598088.1_Missense_Mutation_p.S472F|SPHK2_ENST00000600537.1_Missense_Mutation_p.S413F|SPHK2_ENST00000340932.3_Missense_Mutation_p.S434F|SPHK2_ENST00000599748.1_Missense_Mutation_p.S436F|SPHK2_ENST00000599029.1_Missense_Mutation_p.S436F|SPHK2_ENST00000245222.4_Missense_Mutation_p.S472F Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 472 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCACTGCTGTCTTCACCTCCT 0.672000 15 100 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133796958 133796958 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:133796958C>A ENST00000321016.8 - 13 1890 c.1660G>T c.(1660-1662)Gac>Tac p.D554Y IGSF9B_ENST00000533871.2_Missense_Mutation_p.D554Y Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 554 Fibronectin type-III 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GACAGCCAGTCATGGGGCCCA 0.627000 5 3 0.014758 0.0149289 1 1 0 CPT1A 1374 broad.mit.edu 37 11 68582809 68582809 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:68582809C>T ENST00000265641.5 - 2 288 c.134G>A c.(133-135)aGa>aAa p.R45K CPT1A_ENST00000376618.2_Missense_Mutation_p.R45K|CPT1A_ENST00000540367.1_Missense_Mutation_p.R45K|CPT1A_ENST00000539743.1_Missense_Mutation_p.R45K NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 45 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AACCTTGAATCTGATGAACTT 0.443000 30 60 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62063219 62063219 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:62063219C>G ENST00000404929.1 - 5 1788 c.1777G>C c.(1777-1779)Gaa>Caa p.E593Q FAM161A_ENST00000405894.3_Missense_Mutation_p.E537Q NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 540 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGTTGGTATTCTCTCATCCTT 0.303000 66 81 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178821845 178821845 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:178821845G>T ENST00000234816.2 - 5 1708 c.1261C>A c.(1261-1263)Ctg>Atg p.L421M RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L421M|RALGPS2_ENST00000367634.2_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 421 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TCTCTGTCCAGTGTGGTGAAT 0.363000 7 119 8.12818e-05 8.55255e-05 1 1 0 DPYD 1806 broad.mit.edu 37 1 97771776 97771776 + Silent SNP T T G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:97771776T>G ENST00000370192.3 - 17 2236 c.2136A>C c.(2134-2136)ccA>ccC p.P712P DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 712 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGTGACATTTGGGGTCAGCT 0.453000 47 212 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516029 140516029 + Missense_Mutation SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140516029A>T ENST00000231134.5 + 1 1230 c.1013A>T c.(1012-1014)gAt>gTt p.D338V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 338 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGTGGTGGATGTGAATGAC 0.488000 19 111 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114184734 114184734 + Missense_Mutation SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:114184734A>T ENST00000369615.1 + 10 1624 c.1562A>T c.(1561-1563)aAg>aTg p.K521M MAGI3_ENST00000369611.4_Missense_Mutation_p.K521M|MAGI3_ENST00000369617.4_Missense_Mutation_p.K546M|MAGI3_ENST00000307546.9_Missense_Mutation_p.K521M NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 546 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCATTAACCAAGGGAGAGACT 0.458000 12 85 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75798183 75798183 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75798183G>C ENST00000306726.2 - 7 1313 c.801C>G c.(799-801)ttC>ttG p.F267L NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 267 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGGAGGGAGAACAGGATGA 0.522000 9 60 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42088199 42088199 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:42088199G>A ENST00000395925.3 - 5 654 c.570C>T c.(568-570)ttC>ttT p.F190F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 190 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GTGGAGGGCTGAAGGGAGACT 0.572000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 10 98 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64669802 64669802 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:64669802G>A ENST00000421419.2 - 28 3954 c.3840C>T c.(3838-3840)atC>atT p.I1280I ATG2A_ENST00000377264.3_Silent_p.I1278I Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1278 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CACGCTGGTTGATGAGGGCCG 0.672000 4 25 0 0 1 0 0 CD9 928 broad.mit.edu 37 12 6344708 6344708 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:6344708G>T ENST00000382518.1 + 7 950 c.514G>T c.(514-516)Gta>Tta p.V172L CD9_ENST00000009180.4_Missense_Mutation_p.V172L|CD9_ENST00000382515.2_Missense_Mutation_p.V103L|CD9_ENST00000481267.1_3'UTR P21926 CD9_HUMAN CD9 molecule 172 cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 8 CAAGAAGGACGTACTCGAAAC 0.537000 6 60 6.5536e-12 7.34826e-12 1 1 0 TBC1D1 23216 broad.mit.edu 37 4 38126707 38126707 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:38126707G>A ENST00000261439.4 + 18 3442 c.3087G>A c.(3085-3087)acG>acA p.T1029T TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1029 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TAAAAAGCACGCTACCCAACC 0.408000 13 60 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9989042 9989042 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:9989042C>A ENST00000412055.1 - 4 1944 c.1815G>T c.(1813-1815)tcG>tcT p.S605S NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 605 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CCCAGGCGCACGACAAGCCCT 0.711000 5 15 0.014758 0.0149289 1 1 0 TTN 7273 broad.mit.edu 37 2 179498312 179498312 + Silent SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:179498312T>C ENST00000589042.1 - 232 42998 c.42774A>G c.(42772-42774)gtA>gtG p.V14258V TTN_ENST00000342992.6_Silent_p.V11690V|TTN_ENST00000460472.2_Silent_p.V5193V|TTN_ENST00000342175.6_Silent_p.V5385V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.V12617V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.V5318V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12617 Fibronectin type-III 3. 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) ATTTCACTGGTACATCTTTGC 0.428000 7 36 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65178355 65178355 + Missense_Mutation SNP T T G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:65178355T>G ENST00000310045.7 - 2 4994 c.3521A>C c.(3520-3522)aAc>aCc p.N1174T CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1164 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GTAAAAAAGGTTTGTAGAGGT 0.348000 9 43 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43822654 43822654 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:43822654G>C ENST00000377564.3 + 8 1601 c.1208G>C c.(1207-1209)aGa>aCa p.R403T NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 403 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 ACGTGGAACAGAGCAGGACAT 0.502000 6 32 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20990271 20990271 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:20990271G>A ENST00000380249.1 + 44 5518 c.5154G>A c.(5152-5154)agG>agA p.R1718R FOCAD_ENST00000605086.1_Silent_p.R1154R|FOCAD_ENST00000338382.6_Silent_p.R1718R NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1718 integral to membrane binding TCCTTGGCAGGAGTCCAATGC 0.587000 33 24 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336501 30336501 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:30336501C>T ENST00000375377.1 - 2 342 c.241G>A c.(241-243)Gag>Aag p.E81K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 81 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTCTGGGGCTCCCCGTGGCCT 0.607000 7 64 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101608973 101608973 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:101608973G>C ENST00000311812.2 - 10 1022 c.872C>G c.(871-873)tCt>tGt p.S291C SNX31_ENST00000428383.2_Missense_Mutation_p.S192C NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 291 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) ATTGCCAACAGAAAGAACAGC 0.542000 53 94 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5037247 5037247 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:5037247G>A ENST00000574788.1 + 15 2680 c.450G>A c.(448-450)acG>acA p.T150T USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.T150T|USP6_ENST00000250066.6_Silent_p.T150T P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 150 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACGTGAGGACGACTCTCCGGA 0.562000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 30 92 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22896931 22896931 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:22896931G>C ENST00000376573.4 - 3 492 c.264C>G c.(262-264)ttC>ttG p.F88L PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.F29L NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 88 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CCTTAAACTTGAAATGGCTCG 0.458000 5 33 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205566 20205566 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:20205566G>T ENST00000407540.3 - 2 791 c.729C>A c.(727-729)ttC>ttA p.F243L MATN3_ENST00000421259.2_Missense_Mutation_p.F243L NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 243 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCACGTAGAAAACATGCT 0.507000 7 4 1.6384e-10 1.81123e-10 1 1 0 ZFR 51663 broad.mit.edu 37 5 32390503 32390503 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:32390503C>T ENST00000265069.8 - 12 2122 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 674 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding p.E674Q(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TGATGTTGTTCTTCCTCCATT 0.478000 13 72 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50027840 50027840 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:50027840C>G ENST00000221466.5 + 5 1164 c.678C>G c.(676-678)ttC>ttG p.F226L FCGRT_ENST00000596975.1_Missense_Mutation_p.F134L|FCGRT_ENST00000426395.3_Missense_Mutation_p.F226L|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 226 Alpha-3. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CCTTCTCCTTCTACCCTCCGG 0.652000 9 64 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19765986 19765986 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:19765986C>G ENST00000357324.6 - 12 1623 c.1597G>C c.(1597-1599)Gac>Cac p.D533H ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Missense_Mutation_p.D415H NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 533 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCCGTCTTGTCAAAGCAGCAC 0.637000 4 30 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 114009708 114009708 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:114009708C>G ENST00000375430.4 - 3 316 c.270G>C c.(268-270)caG>caC p.Q90H GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000326039.3_Missense_Mutation_p.Q12H|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.Q90H Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 90 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AGCCGGGATTCTGGTCCATCT 0.652000 16 35 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56022744 56022744 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:56022744G>A ENST00000285298.4 + 3 395 c.266G>A c.(265-267)gGa>gAa p.G89E MRPS17_ENST00000426595.1_Missense_Mutation_p.G184E NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 89 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTCAAAGTTGGAAAAGTCATA 0.473000 19 112 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98649868 98649868 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:98649868G>C ENST00000261574.5 + 12 1231 c.1051G>C c.(1051-1053)Gac>Cac p.D351H IPO5_ENST00000490680.1_Missense_Mutation_p.D333H|IPO5_ENST00000539640.1_Missense_Mutation_p.D208H NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 333 Ran-GTP binding (By similarity). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TGATGATTTTGACAGGTAATC 0.418000 6 28 0 0 1 0 0 C20orf166 128826 broad.mit.edu 37 20 61167667 61167667 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:61167667C>G ENST00000370527.3 + 4 916 c.137C>G c.(136-138)tCc>tGc p.S46C C20orf166_ENST00000370524.2_Missense_Mutation_p.S28C|C20orf166_ENST00000370523.1_Missense_Mutation_p.S28C NM_178463.3 NP_848558.1 Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 46 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) CCTGAAATGTCCATTACTCAC 0.502000 21 21 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103826020 103826020 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:103826020C>T ENST00000299238.5 + 1 874 c.789C>T c.(787-789)tcC>tcT p.S263S NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 263 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGTTGCTGTCCCCCAGGGAGC 0.632000 Hermansky-Pudlak syndrome 8 56 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156305640 156305640 + Translation_Start_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:156305640G>C ENST00000368261.3 - 0 295 CCT3_ENST00000472765.2_De_novo_Start_OutOfFrame|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.S24C|CCT3_ENST00000295688.3_Missense_Mutation_p.S24C P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GATGTTTCCAGATTGAACTTT 0.428000 27 72 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14759863 14759863 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:14759863C>T ENST00000380881.4 - 29 6059 c.5244G>A c.(5242-5244)caG>caA p.Q1748Q FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.Q1747Q|FREM1_ENST00000380894.1_Silent_p.Q283Q|FREM1_ENST00000380880.3_Silent_p.Q1747Q Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1747 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CATATTCGGTCTGTGACCATT 0.413000 44 75 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013974 75013974 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75013974C>G ENST00000379727.3 - 3 1108 c.910G>C c.(910-912)Gat>Cat p.D304H CYP1A1_ENST00000564596.1_Missense_Mutation_p.D43H|CYP1A1_ENST00000567032.1_Missense_Mutation_p.D304H|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D304H|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D304H P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 304 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ATCTTCTCATCTGACAGCTGG 0.527000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 9 55 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45726591 45726591 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:45726591C>T ENST00000216214.3 + 6 1464 c.630C>T c.(628-630)gtC>gtT p.V210V FAM118A_ENST00000441876.2_Silent_p.V210V|FAM118A_ENST00000405548.3_Silent_p.V28V NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 210 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATAAAGACGTCACTCAAGACG 0.582000 11 34 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922498 24922498 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:24922498C>A ENST00000329468.2 + 1 1958 c.1484C>A c.(1483-1485)tCt>tAt p.S495Y NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCTCACTTCTGACCCCCCA 0.532000 97 253 1.53058e-52 1.7486e-52 1 1 0 USP26 83844 broad.mit.edu 37 X 132161288 132161288 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:132161288C>T ENST00000511190.1 - 6 1430 c.961G>A c.(961-963)Gat>Aat p.D321N USP26_ENST00000406273.1_Missense_Mutation_p.D321N|USP26_ENST00000370832.1_Missense_Mutation_p.D321N NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 321 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) AGTAAATCATCAGCAAACGAT 0.383000 24 23 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 99055545 99055545 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:99055545C>G ENST00000295268.3 - 2 264 c.175G>C c.(175-177)Gag>Cag p.E59Q NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 ACAGCTTTCTCAATGCTAGAG 0.348000 25 71 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50269421 50269421 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:50269421G>C ENST00000298310.5 - 21 2389 c.1940C>G c.(1939-1941)tCa>tGa p.S647* NEMF_ENST00000545773.1_Nonsense_Mutation_p.S605*|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Nonsense_Mutation_p.S626* O60524 NEMF_HUMAN nuclear export mediator factor 647 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CATTAGATATGAGGGAGGAAG 0.294000 11 49 0 0 1 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006429 118006429 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:118006429C>G ENST00000310754.4 - 1 307 c.121G>C c.(121-123)Gag>Cag p.E41Q NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 41 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 GCTGTTCCCTCGAACACAAGC 0.547000 11 49 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100152236 100152236 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:100152236G>C ENST00000263174.4 + 4 631 c.256G>C c.(256-258)Gag>Cag p.E86Q PALMD_ENST00000605497.1_Missense_Mutation_p.E86Q NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 86 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TGTCAGGCTTGAGAAAGAGAT 0.358000 11 57 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52569145 52569145 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:52569145G>A ENST00000389534.4 - 7 2449 c.1990C>T c.(1990-1992)Cag>Tag p.Q664* ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Nonsense_Mutation_p.Q548*|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Q664*|ZNF841_ENST00000359973.2_Intron NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 CTTGAACGCTGAGTATAGGCT 0.413000 10 72 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7782073 7782073 + Missense_Mutation SNP T T G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:7782073T>G ENST00000357716.4 + 10 3002 c.2728T>G c.(2728-2730)Tat>Gat p.Y910D GRM7_ENST00000486284.1_3'UTR NM_000844.3 NP_000835.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 910 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTATGTCAGTTATAATAACCT 0.403000 10 50 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928554 32928554 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:32928554C>T ENST00000361627.3 + 12 2302 c.1580C>T c.(1579-1581)tCa>tTa p.S527L ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S338L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S338L NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 527 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CCTAATAATTCAAGTTTTCAA 0.383000 12 46 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831489 39831489 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:39831489C>T ENST00000309060.3 - 4 2483 c.2068G>A c.(2068-2070)Gag>Aag p.E690K ZHX3_ENST00000540170.1_Missense_Mutation_p.E690K|ZHX3_ENST00000544979.2_Missense_Mutation_p.E690K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E690K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E690K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E690K|ZHX3_ENST00000558993.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 690 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TCTCCACCCTCATCCTCAGCA 0.517000 9 169 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36149306 36149306 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:36149306G>A ENST00000303965.4 - 18 3552 c.3063C>T c.(3061-3063)ctC>ctT p.L1021L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1021 PH 4. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CTTTGTAGAAGAGTTGACCAA 0.378000 11 52 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819021 50819021 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:50819021G>A ENST00000374115.3 + 1 675 c.235G>A c.(235-237)Gag>Aag p.E79K CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 79 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CGAGGTGTGGGAGCCCACCCT 0.701000 8 16 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602366 14602366 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:14602366C>G ENST00000274217.3 + 5 543 c.423C>G c.(421-423)ctC>ctG p.L141L NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 141 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) ATGATGCTCTCAGATCAGTGT 0.383000 11 50 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690569 77690569 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:77690569G>C ENST00000521891.2 + 4 3667 c.3219G>C c.(3217-3219)caG>caC p.Q1073H ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1047H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1047H|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1047H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1047 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCATCAGCAGACTGAGGGCC 0.502000 HNSCC(33;0.089) 21 151 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11850152 11850152 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:11850152G>A ENST00000396516.2 - 20 2700 c.2503C>T c.(2503-2505)Cag>Tag p.Q835* ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q835*|ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q31* Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 835 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 TTGTTTGACTGACTGGCTATG 0.373000 11 65 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921480 12921480 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:12921480G>A ENST00000240189.2 + 4 1358 c.1271G>A c.(1270-1272)cGt>cAt p.R424H NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 424 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTGGTTCGTGTCAATTGG 0.562000 25 128 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85525405 85525405 + Missense_Mutation SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:85525405A>G ENST00000295887.5 + 2 550 c.127A>G c.(127-129)Att>Gtt p.I43V NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 43 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GGAAACAGATATTGATGACAG 0.353000 12 54 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943166 12943166 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:12943166C>T ENST00000235349.5 - 2 120 c.50G>A c.(49-51)cGg>cAg p.R17Q NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 17 p.R17Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TAGCAGGCTCCGCCCTGCAAG 0.562000 32 171 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75070254 75070254 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:75070254C>G ENST00000453279.2 - 5 1069 c.205G>C c.(205-207)Gat>Cat p.D69H POM121C_ENST00000257665.5_Missense_Mutation_p.D311H NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 311 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 TCCTGGCCATCAAGGAATATT 0.463000 29 259 0 0 1 0 0 GNMT 27232 broad.mit.edu 37 6 42930880 42930880 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:42930880C>T ENST00000372808.3 + 4 532 c.522C>T c.(520-522)gtC>gtT p.V174V NM_018960.4 NP_061833.1 Q14749 GNMT_HUMAN glycine N-methyltransferase 174 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity kidney(2)|large_intestine(1)|lung(1) 4 Colorectal(47;0.196) all cancers(41;0.00196)|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;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) GCCTACTGGTCATTGATCATC 0.612000 7 31 0 0 1 0 0 CCL13 6357 broad.mit.edu 37 17 32685048 32685048 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:32685048C>G ENST00000225844.2 + 3 270 c.195C>G c.(193-195)ttC>ttG p.F65L NM_005408.2 NP_005399.1 Q99616 CCL13_HUMAN chemokine (C-C motif) ligand 13 65 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) TCCACAGCTTCAGAACCAAAC 0.512000 5 40 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64519341 64519341 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:64519341G>T ENST00000358025.3 + 48 8940 c.8710G>T c.(8710-8712)Gag>Tag p.E2904* SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E2904*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2937* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2904 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CATCTATGAGGAGCTGAATGT 0.348000 7 25 0.00198382 0.00203296 1 1 0 VPS45 11311 broad.mit.edu 37 1 150053426 150053426 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:150053426G>A ENST00000369130.3 + 8 1236 c.690G>A c.(688-690)tgG>tgA p.W230* VPS45_ENST00000535106.1_Nonsense_Mutation_p.W161*|VPS45_ENST00000369128.5_Nonsense_Mutation_p.W125* NM_001279354.1|NM_007259.3 NP_001266283.1|NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 230 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction 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) TTATTTAGTGGACATATCAGG 0.353000 6 64 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71374687 71374687 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:71374687C>T ENST00000304743.2 + 1 566 c.120C>T c.(118-120)ctC>ctT p.L40L PCNX_ENST00000238570.5_Silent_p.L40L|PCNX_ENST00000439984.3_Silent_p.L40L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 40 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ACCTGTGGCTCTTTCTGCTGG 0.692000 7 7 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43916762 43916762 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:43916762C>A ENST00000336086.6 - 4 4407 c.2171G>T c.(2170-2172)aGa>aTa p.R724I URGCP_ENST00000223341.7_Missense_Mutation_p.R724I|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.R724I|URGCP_ENST00000453200.1_Missense_Mutation_p.R767I|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R724I|URGCP_ENST00000402306.3_Missense_Mutation_p.R758I Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 767 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGCTCAAATCTGTCCCCAGC 0.567000 10 63 0.000442599 0.000460772 1 1 0 TRAPPC11 60684 broad.mit.edu 37 4 184612493 184612493 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:184612493G>A ENST00000334690.6 + 19 2120 c.1918G>A c.(1918-1920)Gaa>Aaa p.E640K TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E246K|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E640K NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 640 CTGTGTAATAGAAGAAGCATC 0.383000 6 62 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121220591 121220591 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:121220591G>A ENST00000297848.3 + 11 1582 c.1312G>A c.(1312-1314)Gaa>Aaa p.E438K COL14A1_ENST00000537875.1_Missense_Mutation_p.E438K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E438K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E343K|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 438 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACGGGGAACTGAAACTACACG 0.398000 17 59 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117699367 117699367 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:117699367C>G ENST00000369458.3 - 3 352 c.274G>C c.(274-276)Gag>Cag p.E92Q VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.E95Q NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 92 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TCATCCTGCTCCGACAGCTCA 0.463000 11 100 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400700 78400700 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:78400700C>G ENST00000397909.2 + 8 1555 c.1382C>G c.(1381-1383)tCt>tGt p.S461C NAV3_ENST00000536525.2_Missense_Mutation_p.S461C|NAV3_ENST00000266692.7_Missense_Mutation_p.S461C|NAV3_ENST00000228327.6_Missense_Mutation_p.S461C Q8IVL0 NAV3_HUMAN neuron navigator 3 461 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S461F(1) 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 AATAAAAAGTCTTTGCTACAG 0.413000 HNSCC(70;0.22) 18 85 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37627686 37627686 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:37627686C>T ENST00000447079.4 + 2 1634 c.1601C>T c.(1600-1602)tCt>tTt p.S534F CDK12_ENST00000430627.2_Missense_Mutation_p.S534F NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 534 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ACAATTGCTTCTCCCCCACCC 0.522000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 16 91 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151853410 151853410 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:151853410G>C ENST00000355193.2 - 46 12081 c.11863C>G c.(11863-11865)Cca>Gca p.P3955A KMT2C_ENST00000262189.6_Missense_Mutation_p.P3898A lysine (K)-specific methyltransferase 2C GGGGGTGTTGGAGGATTACTT 0.428000 15 74 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21945698 21945698 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:21945698C>T ENST00000405508.1 + 3 326 c.50C>T c.(49-51)tCg>tTg p.S17L TOX4_ENST00000262709.3_Missense_Mutation_p.S17L|TOX4_ENST00000448790.2_Intron|TOX4_ENST00000494242.1_3'UTR O94842 TOX4_HUMAN TOX high mobility group box family member 4 17 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) ACAGGGCCTTCGCACCCCTTC 0.622000 OREG0022569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 76 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40874832 40874832 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:40874832C>T ENST00000428826.2 - 6 589 c.468G>A c.(466-468)ggG>ggA p.G156G EZH1_ENST00000590078.1_Silent_p.G86G|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000585893.1_Silent_p.G116G|EZH1_ENST00000415827.2_Silent_p.G147G|EZH1_ENST00000592743.1_Silent_p.G156G Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 156 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CATGGACTTTCCCATCATAGT 0.403000 10 102 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101918591 101918591 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:101918591G>C ENST00000437600.4 + 17 1870 c.1518G>C c.(1516-1518)caG>caC p.Q506H CUX1_ENST00000425244.2_Missense_Mutation_p.Q462H|CUX1_ENST00000292538.4_Missense_Mutation_p.Q508H|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.Q469H|CUX1_ENST00000547394.2_Missense_Mutation_p.Q492H NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 320 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TCTCCAGCCAGAGGGAGCGCT 0.622000 7 53 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126242013 126242013 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:126242013G>T ENST00000394329.3 + 1 4460 c.4447G>T c.(4447-4449)Gaa>Taa p.E1483* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1483 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACTAATGCTGAAATAGATCG 0.383000 21 110 7.45023e-12 8.3417e-12 1 1 0 LPCAT3 10162 broad.mit.edu 37 12 7090195 7090195 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:7090195C>T ENST00000261407.4 - 6 733 c.648G>A c.(646-648)ctG>ctA p.L216L LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 216 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 GTATGTCAATCAGCTCTCCCT 0.478000 38 142 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19475284 19475284 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:19475284C>G ENST00000396229.2 + 8 2172 c.1423C>G c.(1423-1425)Cag>Gag p.Q475E TMC5_ENST00000541464.1_Missense_Mutation_p.Q475E|TMC5_ENST00000219821.5_Missense_Mutation_p.Q229E|TMC5_ENST00000381414.4_Missense_Mutation_p.Q475E|TMC5_ENST00000561503.1_Missense_Mutation_p.Q116E|TMC5_ENST00000564959.1_Missense_Mutation_p.Q158E|TMC5_ENST00000542583.2_Missense_Mutation_p.Q475E NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 475 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 CATAATCCCTCAGTTTACCGT 0.468000 16 72 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43363800 43363800 + RNA SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:43363800C>T ENST00000344686.2 - 0 1255 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTAGTTACCTCAGTGAGCAGG 0.572000 4 9 0 0 1 0 0 ABI2 10152 broad.mit.edu 37 2 204281636 204281636 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:204281636G>C ENST00000295851.5 + 10 1494 c.1198G>C c.(1198-1200)Gat>Cat p.D400H ABI2_ENST00000261016.6_Missense_Mutation_p.D288H|ABI2_ENST00000261017.5_Missense_Mutation_p.D362H|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.D394H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.D345H|ABI2_ENST00000422511.2_Missense_Mutation_p.D367H|ABI2_ENST00000261018.7_Missense_Mutation_p.D186H NM_001282925.1|NM_001282926.1 NP_001269854.1|NP_001269855.1 Q9NYB9 ABI2_HUMAN abl-interactor 2 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding p.D362Y(1) breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 CTTAGTTTCAGATACACCACC 0.458000 7 45 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466469 56466469 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:56466469C>G ENST00000291971.3 + 3 1116 c.1045C>G c.(1045-1047)Ccc>Gcc p.P349A NLRP8_ENST00000590542.1_Missense_Mutation_p.P349A NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 349 NACHT. cytoplasm ATP binding p.P349T(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCTGAAATGTCCCTCTCTCGT 0.453000 16 94 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242063472 242063472 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:242063472G>A ENST00000403638.3 - 11 2887 c.2796C>T c.(2794-2796)ctC>ctT p.L932L PASK_ENST00000234040.4_Silent_p.L932L|PASK_ENST00000358649.4_Silent_p.L932L|PASK_ENST00000544142.1_Silent_p.L746L|PASK_ENST00000539818.1_Silent_p.L716L|PASK_ENST00000405260.1_Silent_p.L932L NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 932 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGCTGTGGAGGAGGTCTTTCA 0.637000 10 17 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76813007 76813007 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:76813007G>A ENST00000286719.7 - 3 536 c.180C>T c.(178-180)gtC>gtT p.V60V NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 60 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATTGTACCTTGACTTGGTCTT 0.587000 7 70 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25432688 25432688 + RNA SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:25432688G>A ENST00000424208.1 + 0 761 SNORD115-10_ENST00000365073.1_RNA NR_003305.1 GGGTTGGGTCGATGATGAGAA 0.537000 104 270 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47604191 47604191 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:47604191C>G ENST00000383738.2 - 5 3698 c.1600G>C c.(1600-1602)Gag>Cag p.E534Q CSPG5_ENST00000456150.1_Missense_Mutation_p.E369Q|CSPG5_ENST00000264723.4_Missense_Mutation_p.E507Q NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 534 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTAAATGACTCCTCCTCTTTC 0.488000 25 154 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70411673 70411673 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:70411673C>T ENST00000373644.4 + 5 4556 c.4347C>T c.(4345-4347)gtC>gtT p.V1449V NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1449 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTGCTGCTGTCAGGGAAATCA 0.403000 23 82 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381647 102381647 + RNA SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:102381647G>A ENST00000419462.1 + 0 1059 NR_002182.1 CGAAGAGGTCGATGAAACAGG 0.433000 7 55 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36587698 36587698 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:36587698G>A ENST00000273183.3 + 11 1426 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K STAC_ENST00000457375.2_Missense_Mutation_p.E315K NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 376 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CGTGAGTTCTGAAGAAGAACA 0.428000 13 95 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56865374 56865374 + Missense_Mutation SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:56865374A>G ENST00000311966.4 - 18 1984 c.1706T>C c.(1705-1707)gTc>gCc p.V569A NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 569 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAGCAGTTTGACCACCTCCAG 0.502000 7 71 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 7 70 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454471 84454471 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:84454471C>T ENST00000377084.2 - 1 2057 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 391 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTGCGATTTTCGGATGCTGTG 0.448000 38 135 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128113053 128113053 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:128113053G>C ENST00000470056.1 + 20 3550 c.3390G>C c.(3388-3390)aaG>aaC p.K1130N GAPVD1_ENST00000394104.2_Missense_Mutation_p.K1175N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.K1184N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.K1109N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.K1136N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.K1149N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.K1157N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.K1175N Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1175 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TACAAGATAAGAATCTAATGG 0.343000 27 44 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47131003 47131003 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:47131003C>G ENST00000576409.1 - 2 431 c.369G>C c.(367-369)gaG>gaC p.E123D ATPAF1_ENST00000329231.4_Missense_Mutation_p.E123D|EFCAB14_ENST00000544071.1_Missense_Mutation_p.R385T|ATPAF1_ENST00000371937.4_Missense_Mutation_p.E100D|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.E12D|ATPAF1_ENST00000574428.1_Missense_Mutation_p.E100D Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 100 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) CACTGCGTTTCTCCAGGCGGG 0.468000 5 43 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77977120 77977120 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:77977120G>A ENST00000237654.4 - 5 1030 c.454C>T c.(454-456)Cat>Tat p.H152Y CCNI_ENST00000537948.1_Missense_Mutation_p.H138Y NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 152 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 TTTACAATATGAAGAAAATCC 0.313000 11 92 0 0 1 0 0 LY6K 54742 broad.mit.edu 37 8 143782008 143782008 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:143782008G>C ENST00000522591.1 + 1 119 c.63G>C c.(61-63)ctG>ctC p.L21L LY6K_ENST00000518841.1_Silent_p.L21L|LY6K_ENST00000292430.6_Silent_p.L21L|LY6K_ENST00000519387.1_Silent_p.L21L|LY6K_ENST00000561179.1_Silent_p.L79L Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K 21 anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACGCCAACCTGACTGCGAGAC 0.716000 4 6 0 0 1 0 0 AAR2 25980 broad.mit.edu 37 20 34827927 34827927 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:34827927G>A ENST00000373932.3 + 2 483 c.137G>A c.(136-138)cGg>cAg p.R46Q AAR2_ENST00000397286.3_Missense_Mutation_p.R46Q|AAR2_ENST00000320849.4_Missense_Mutation_p.R46Q NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) CCCAAGTTCCGGGGCGTGAAG 0.547000 4 79 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116863026 116863026 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:116863026C>G ENST00000265437.5 + 16 1964 c.1750C>G c.(1750-1752)Caa>Gaa p.Q584E ST7_ENST00000393449.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000432298.1_Intron NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 584 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) tcaacatttccaaaactgaac 0.512000 5 37 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20145726 20145726 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:20145726G>C ENST00000345530.3 - 17 1814 c.1699C>G c.(1699-1701)Ctg>Gtg p.L567V WDR35_ENST00000281405.4_Missense_Mutation_p.L556V|WDR35_ENST00000416055.2_Missense_Mutation_p.L132V NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 567 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAAAGTCAGAACTCCTGAG 0.368000 21 121 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23609766 23609766 + Silent SNP G G A rs139271979 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:23609766G>A ENST00000316902.7 - 5 1427 c.702C>T c.(700-702)gtC>gtT p.V234V SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Silent_p.V234V|SLC7A8_ENST00000529705.2_Silent_p.V129V|SLC7A8_ENST00000453702.1_Silent_p.V31V|SLC7A8_ENST00000422941.2_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 234 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AAGCCAGTGCGACGAGGCCGA 0.512000 18 184 0 0 1 0 0 R3HDM4 91300 broad.mit.edu 37 19 902052 902052 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:902052G>A ENST00000361574.5 - 2 223 c.150C>T c.(148-150)ttC>ttT p.F50F R3HDM4_ENST00000587975.1_Silent_p.F29F NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 50 nucleus nucleic acid binding CCTGGTTGATGAAGTGCTGTT 0.672000 8 98 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139578 178139578 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:178139578C>G ENST00000335815.2 - 5 1498 c.1301G>C c.(1300-1302)gGa>gCa p.G434A NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 434 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) AAACTTCTCTCCAGTATGAAT 0.368000 19 96 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973898 64973898 + Missense_Mutation SNP T T A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:64973898T>A ENST00000399262.2 - 8 2247 c.2029A>T c.(2029-2031)Ata>Tta p.I677L JMJD1C_ENST00000402544.1_Missense_Mutation_p.I458L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.I458L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.I495L NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 677 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TCATGTTCTATCTTATTTGCC 0.363000 17 85 0 0 1 0 0 ATAT1 79969 broad.mit.edu 37 6 30614248 30614248 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:30614248C>G ENST00000330083.5 + 13 1376 c.1058C>G c.(1057-1059)tCt>tGt p.S353C ATAT1_ENST00000376478.2_Missense_Mutation_p.S342C|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376485.4_Missense_Mutation_p.S365C NM_001031722.2 NP_001026892.1 Q5SQI0 ATAT_HUMAN alpha tubulin acetyltransferase 1 365 tubulin N-acetyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CCTACCAGGTCTGCCAGTGAG 0.557000 5 7 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949361 116949361 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:116949361C>T ENST00000229554.5 + 3 1628 c.1491C>T c.(1489-1491)gtC>gtT p.V497V RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.V497V NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 497 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAACCCACGTCAGTCCTCTAG 0.468000 Kartagener syndrome 7 75 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26951260 26951260 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:26951260G>C ENST00000528896.2 - 25 4817 c.4743C>G c.(4741-4743)gtC>gtG p.V1581V KIAA0100_ENST00000544884.1_Silent_p.V1438V|KIAA0100_ENST00000389003.3_Silent_p.V1438V NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1581 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCTGACAGTTGACCAATTCAA 0.443000 14 134 0 0 1 0 0 MTHFD2 10797 broad.mit.edu 37 2 74441331 74441331 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:74441331G>A ENST00000394053.2 + 8 1095 c.1015G>A c.(1015-1017)Gtg>Atg p.V339M MTHFD2_ENST00000409804.1_Missense_Mutation_p.V211M|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.V175M|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V256M|MTHFD2_ENST00000264090.4_Missense_Mutation_p.V237M NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 339 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) AGAGCGAGAAGTGCTGAAGTC 0.483000 34 34 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171310923 171310923 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:171310923G>A ENST00000367749.3 + 10 1952 c.1622G>A c.(1621-1623)aGa>aAa p.R541K NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 541 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AAATTGGTGAGAGATAAACTA 0.418000 9 73 0 0 1 0 0 MYL12A 10627 broad.mit.edu 37 18 3253278 3253278 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:3253278G>A ENST00000217652.3 + 2 428 c.33G>A c.(31-33)aaG>aaA p.K11K MYL12A_ENST00000579226.1_Silent_p.K11K|MYL12A_ENST00000536605.1_Silent_p.K11K|MYL12A_ENST00000580887.1_Silent_p.K17K|MYL12A_ENST00000578611.1_Silent_p.K11K NM_006471.2 NP_006462.1 P19105 ML12A_HUMAN myosin, light chain 12A, regulatory, non-sarcomeric 11 myosin complex calcium ion binding|protein binding NS(1)|kidney(2)|large_intestine(2) 5 CCAAGACCAAGAAGCGCCCTC 0.403000 15 76 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69647194 69647194 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:69647194G>A ENST00000453994.2 + 10 1178 c.817G>A c.(817-819)Gag>Aag p.E273K GDPD2_ENST00000538649.1_Missense_Mutation_p.E194K|GDPD2_ENST00000374382.3_Missense_Mutation_p.E273K|GDPD2_ENST00000536730.1_Missense_Mutation_p.E194K|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 273 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) CATGCATGATGAGCACCTCAG 0.572000 16 21 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91293213 91293213 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:91293213G>A ENST00000355112.3 + 3 833 c.715G>A c.(715-717)Gat>Aat p.D239N BLM_ENST00000560509.1_Missense_Mutation_p.D239N NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 239 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GATTTGCATCGATGATGGCCC 0.413000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 5 65 0 0 1 0 0 CLDN15 24146 broad.mit.edu 37 7 100877609 100877609 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:100877609G>T ENST00000401528.1 - 3 1457 c.332C>A c.(331-333)tCc>tAc p.S111Y CLDN15_ENST00000308344.5_Missense_Mutation_p.S111Y NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 111 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) GGCTTTCCTGGAGAGCTCCAG 0.667000 17 57 0.000422831 0.000440777 1 1 0 CFB 629 broad.mit.edu 37 6 31915602 31915602 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:31915602G>C ENST00000456570.1 + 17 2303 c.2248G>C c.(2248-2250)Gag>Cag p.E750Q CFB_ENST00000477310.1_Missense_Mutation_p.E599Q|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.E750Q|CFB_ENST00000425368.2_Missense_Mutation_p.E248Q P00751 CFAB_HUMAN complement factor B 248 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGTCGATGCTGAGGATGGGCA 0.547000 78 100 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588619 20588619 + RNA SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:20588619C>T ENST00000428453.1 - 0 4131 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCTCCTTCTCACACACTGAG 0.403000 6 74 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442107 103442107 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:103442107G>C ENST00000361246.2 - 11 1709 c.1421C>G c.(1420-1422)tCa>tGa p.S474* NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 474 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GGCCCGAGATGAGCCGTGGAG 0.542000 28 158 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41914570 41914570 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:41914570C>T ENST00000396512.3 + 8 1118 c.1101C>T c.(1099-1101)ctC>ctT p.L367L ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000216254.4_Silent_p.L342L Q99798 ACON_HUMAN aconitase 2, mitochondrial 342 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 AAATTAACCTCAGTGAGGTGA 0.488000 16 109 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374151 39374151 + Missense_Mutation SNP C C G rs144913149 byFrequency TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:39374151C>G ENST00000326306.4 + 2 467 c.329C>G c.(328-330)tCt>tGt p.S110C CCR8_ENST00000545843.1_Missense_Mutation_p.S27C|CCR8_ENST00000414803.1_Silent_p.V52V NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 110 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) AAAGTGGTGTCTGGCTTTTAT 0.493000 49 232 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75969093 75969093 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75969093C>G ENST00000308508.5 - 10 5859 c.5767G>C c.(5767-5769)Gat>Cat p.D1923H CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1923 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTGGCCCCATCAGACATGCTC 0.662000 10 41 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830143 38830143 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:38830143G>A ENST00000436693.2 - 2 1071 c.952C>T c.(952-954)Ctg>Ttg p.L318L TLR6_ENST00000381950.1_Silent_p.L318L NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 318 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGTGAAAACAGAAAAACTTGG 0.333000 13 49 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34091616 34091616 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:34091616G>A ENST00000397527.1 + 30 6139 c.5419G>A c.(5419-5421)Gag>Aag p.E1807K CEP250_ENST00000342580.4_Missense_Mutation_p.E1751K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1807 Gln/Glu-rich. 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) TCAACTGGATGAGGCCCAGAG 0.597000 8 76 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90503615 90503615 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:90503615C>G ENST00000369393.3 - 5 836 c.721G>C c.(721-723)Gaa>Caa p.E241Q MDN1_ENST00000428876.1_Missense_Mutation_p.E241Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 241 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) AGGGAGACTTCTGGATTGGCC 0.502000 8 38 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949268 7949268 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:7949268G>C ENST00000309838.2 - 1 941 c.942C>G c.(940-942)atC>atG p.I314M NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACACAGTCAGATTGTGTGTA 0.363000 10 62 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71623368 71623368 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:71623368G>A ENST00000541509.1 + 14 1697 c.1508G>A c.(1507-1509)tGa>tAa p.*503* PIP5K1B_ENST00000265382.3_3'UTR NM_001278253.1 NP_001265182.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CCCAGTAAGTGAAAATGGTGA 0.468000 30 51 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043973 117043973 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:117043973G>C ENST00000371876.1 - 4 2925 c.504C>G c.(502-504)gtC>gtG p.V168V KLHL13_ENST00000539496.1_Silent_p.V222V|KLHL13_ENST00000469946.1_Silent_p.V168V|KLHL13_ENST00000545703.1_Silent_p.V177V|KLHL13_ENST00000541812.1_Silent_p.V203V|KLHL13_ENST00000540167.1_Silent_p.V203V|KLHL13_ENST00000371878.1_Silent_p.V168V|KLHL13_ENST00000371882.1_Silent_p.V168V|KLHL13_ENST00000262820.3_Silent_p.V219V Q9P2N7 KLH13_HUMAN kelch-like family member 13 219 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AATTCTTCAAGACGAAACTGT 0.423000 32 30 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232397 71232397 + Nonsense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:71232397C>G ENST00000359042.2 + 3 970 c.776C>G c.(775-777)tCa>tGa p.S259* C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Nonsense_Mutation_p.S259*|C17orf80_ENST00000426147.2_Nonsense_Mutation_p.S259*|C17orf80_ENST00000255557.4_Nonsense_Mutation_p.S259*|C17orf80_ENST00000535032.2_Nonsense_Mutation_p.S259*|C17orf80_ENST00000577615.1_Nonsense_Mutation_p.S259*|FAM104A_ENST00000583178.1_Intron NM_017941.4 NP_060411 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 259 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) GATCACCTCTCAGGAGTCCCT 0.398000 17 50 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993498 144993498 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:144993498C>G ENST00000322810.4 - 32 11071 c.10902G>C c.(10900-10902)gaG>gaC p.E3634D PLEC_ENST00000356346.3_Missense_Mutation_p.E3483D|PLEC_ENST00000354958.2_Missense_Mutation_p.E3475D|PLEC_ENST00000354589.3_Missense_Mutation_p.E3497D|PLEC_ENST00000436759.2_Missense_Mutation_p.E3524D|PLEC_ENST00000527096.1_Missense_Mutation_p.E3520D|PLEC_ENST00000398774.2_Missense_Mutation_p.E3465D|PLEC_ENST00000345136.3_Missense_Mutation_p.E3497D|PLEC_ENST00000357649.2_Missense_Mutation_p.E3501D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3634 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCGGTTCATCTCCTCACTGA 0.657000 22 99 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123782565 123782565 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:123782565C>G ENST00000420886.2 - 30 3998 c.3999G>C c.(3997-3999)caG>caC p.Q1333H SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1332H|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1333H|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1332H NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1333 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GCCGCACGATCTGCATCTTCA 0.433000 12 111 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150318945 150318945 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:150318945G>C ENST00000324862.6 + 14 1986 c.1821G>C c.(1819-1821)caG>caC p.Q607H PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.Q558H NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 607 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GGGATGAACAGACATCTAACA 0.473000 8 70 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146188 31146188 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:31146188C>T ENST00000304166.4 + 16 1586 c.1297C>T c.(1297-1299)Ccg>Tcg p.P433S ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P412S|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P461S|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P489S 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 433 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 GCACCGACACCCGTCTCTGGC 0.587000 6 49 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28267711 28267711 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:28267711G>A ENST00000354638.3 - 6 737 c.582C>T c.(580-582)ttC>ttT p.F194F OCA2_ENST00000382996.2_Silent_p.F194F|OCA2_ENST00000353809.5_Silent_p.F194F NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 194 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GATATAGGCTGAACAAAATCT 0.443000 Oculocutaneous Albinism 13 19 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498895 75498895 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75498895C>T ENST00000360639.2 + 2 826 c.506C>T c.(505-507)tCa>tTa p.S169L C15orf39_ENST00000394987.4_Missense_Mutation_p.S169L|C15orf39_ENST00000567617.1_Missense_Mutation_p.S169L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 169 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTGTTGCCCTCAGCTGACCCA 0.617000 15 57 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39001179 39001179 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:39001179G>T ENST00000355481.4 + 59 9105 c.8974G>T c.(8974-8976)Gaa>Taa p.E2992* RYR1_ENST00000360985.3_Nonsense_Mutation_p.E2992*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.E2992* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2992 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCCCCACATGAACAGGAGAT 0.557000 16 64 0.000566183 0.000588651 1 1 0 C14orf39 317761 broad.mit.edu 37 14 60936346 60936346 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:60936346C>G ENST00000321731.3 - 8 739 c.580G>C c.(580-582)Gat>Cat p.D194H NM_174978.2 NP_777638 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 194 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TTAAGAATATCTTGTGTTTCA 0.254000 14 77 0 0 1 0 0 AZI2 64343 broad.mit.edu 37 3 28379434 28379434 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:28379434G>A ENST00000479665.1 - 4 964 c.433C>T c.(433-435)Cag>Tag p.Q145* AZI2_ENST00000457172.1_Nonsense_Mutation_p.Q145*|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Nonsense_Mutation_p.Q145*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.Q145* NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 145 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 ATACCCTGCTGAGTTTCCACC 0.333000 23 52 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665317 157665317 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:157665317C>T ENST00000368184.3 - 8 1504 c.1213G>A c.(1213-1215)Gag>Aag p.E405K FCRL3_ENST00000368186.5_Missense_Mutation_p.E405K|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 405 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTCAGGGACTCACAGTGAAGC 0.592000 35 60 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33146470 33146470 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:33146470C>T ENST00000341947.2 - 18 1932 c.1705G>A c.(1705-1707)Gag>Aag p.E569K COL11A2_ENST00000395197.1_Missense_Mutation_p.E509K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E488K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E462K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E548K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E543K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E522K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E483K NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 569 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGGCCCTTCTCTCCAGGGAGC 0.557000 20 114 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19213751 19213751 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:19213751G>C ENST00000263200.10 - 12 2010 c.1938C>G c.(1936-1938)ctC>ctG p.L646L CLTCL1_ENST00000353891.5_Silent_p.L646L|CLTCL1_ENST00000427926.1_Silent_p.L646L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 646 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCTCGGGATTGAGGAGGTGAG 0.537000 T ? ALCL 8 20 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66033495 66033495 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:66033495G>C ENST00000537025.2 + 3 717 c.97G>C c.(97-99)Gag>Cag p.E33Q KPNA2_ENST00000330459.3_Missense_Mutation_p.E33Q P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 33 IBB. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TCGCAGAATAGAGGTCAATGT 0.428000 32 71 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80887349 80887349 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:80887349G>T ENST00000355528.4 + 32 3094 c.2964G>T c.(2962-2964)gtG>gtT p.V988V TBCD_ENST00000539345.2_Silent_p.V988V NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 988 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GGCTAGTCGTGTCCCTGGGCG 0.672000 17 30 8.28177e-16 9.40675e-16 1 1 0 XKR4 114786 broad.mit.edu 37 8 56015176 56015176 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:56015176G>A ENST00000327381.6 + 1 228 c.128G>A c.(127-129)gGa>gAa p.G43E NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TCGGGGTCGGGAGCCGAGGAC 0.726000 7 26 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95570086 95570086 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:95570086G>A ENST00000526495.1 - 23 3938 c.3647C>T c.(3646-3648)tCa>tTa p.S1216L DICER1_ENST00000343455.3_Missense_Mutation_p.S1216L|DICER1_ENST00000541352.1_Missense_Mutation_p.S1216L|DICER1_ENST00000556045.1_Missense_Mutation_p.S114L|DICER1_ENST00000393063.1_Missense_Mutation_p.S1216L|DICER1_ENST00000527414.1_Missense_Mutation_p.S1216L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1216 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 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) AATGGAATATGAGGTAGTTGG 0.403000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 29 70 0 0 1 0 0 KCNRG 283518 broad.mit.edu 37 13 50594549 50594549 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:50594549G>C ENST00000312942.1 + 2 1018 c.778G>C c.(778-780)Gag>Cag p.E260Q TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR NM_173605.1 NP_775876.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator 260 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) ACCAAAACCAGAGACTATCAT 0.353000 16 102 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181548263 181548263 + Silent SNP T T A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:181548263T>A ENST00000526775.1 + 5 837 c.672T>A c.(670-672)atT>atA p.I224I CACNA1E_ENST00000357570.5_Silent_p.I175I|CACNA1E_ENST00000358338.5_Silent_p.I175I|CACNA1E_ENST00000367570.1_Silent_p.I224I|CACNA1E_ENST00000360108.3_Silent_p.I224I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.I224I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 224 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTCTGCAGATTGGCCTTCTGC 0.468000 51 111 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47324545 47324545 + Translation_Start_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:47324545G>C ENST00000265529.3 - 0 115 KLHL18_ENST00000232766.5_Missense_Mutation_p.E30D|KLHL18_ENST00000455924.2_5'UTR|KLHL18_ENST00000483201.1_3'UTR Q9HAQ2 KIF9_HUMAN kinesin family member 9 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCATGGAGGAGATCCGGCGGC 0.662000 3 7 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255590 85255590 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:85255590C>T ENST00000266682.5 - 12 2555 c.2014G>A c.(2014-2016)Gat>Aat p.D672N SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N|SLC6A15_ENST00000309283.7_3'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 672 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CTTGTATCATCGCCCTCTAAG 0.423000 30 144 0 0 1 0 0 PLK1 5347 broad.mit.edu 37 16 23693416 23693416 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:23693416G>C ENST00000300093.4 + 4 865 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 252 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) ACCACCTTTTGAGACTTCTTG 0.413000 14 64 0 0 1 0 0 LEMD3 23592 broad.mit.edu 37 12 65640104 65640104 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:65640104G>A ENST00000308330.2 + 13 2761 c.2735G>A c.(2734-2736)tGa>tAa p.*912* NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 0 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GGAAGTTCCTGAAAAGATTTT 0.343000 13 90 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475520 120475520 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:120475520C>T ENST00000355622.6 + 3 1215 c.1114C>T c.(1114-1116)Cta>Tta p.L372L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L332L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 372 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGAAGTTGATCTACCAAGCCT 0.378000 19 77 0 0 1 0 0 NMNAT2 23057 broad.mit.edu 37 1 183261927 183261927 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:183261927G>T ENST00000287713.6 - 3 574 c.240C>A c.(238-240)atC>atA p.I80I NMNAT2_ENST00000294868.4_Silent_p.I75I NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 80 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 AGTCCTACCTGATCCAATCAG 0.552000 8 44 0.0477658 0.048195 1 1 0 UPF2 26019 broad.mit.edu 37 10 12043694 12043694 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:12043694C>G ENST00000356352.2 - 5 2108 c.1635G>C c.(1633-1635)aaG>aaC p.K545N UPF2_ENST00000357604.5_Missense_Mutation_p.K545N|UPF2_ENST00000397053.2_Missense_Mutation_p.K545N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 545 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CAAGAAGTTTCTTTGTAAGAT 0.338000 6 75 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410218 105410218 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:105410218G>A ENST00000333244.5 - 7 11689 c.11570C>T c.(11569-11571)tCt>tTt p.S3857F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3857 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGGTCGGCAGAATGGGGCTG 0.637000 43 233 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68255431 68255431 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:68255431G>C ENST00000262215.3 - 1 481 c.92C>G c.(91-93)tCc>tGc p.S31C NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 31 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCGCAGCTGGGAGTGATGCGC 0.627000 3 51 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135739144 135739144 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:135739144G>T ENST00000298545.3 - 4 762 c.241C>A c.(241-243)Ctg>Atg p.L81M AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 81 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 CTGCTGTTCAGATGTTTGCAG 0.423000 5 29 0.184627 0.185098 1 1 0 LOC645166 645166 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.2 TGCTGCCCGCAGGATATTGTG 0.562000 5 36 0 0 1 0 0 CCDC167 154467 broad.mit.edu 37 6 37467607 37467607 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:37467607G>A ENST00000373408.3 - 1 91 c.33C>T c.(31-33)gtC>gtT p.V11V NM_138493.2 NP_612502.1 Q9P0B6 CF129_HUMAN coiled-coil domain containing 167 11 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 CCTCTAGAGCGACGCCCAGAT 0.577000 13 35 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9674975 9674975 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:9674975C>G ENST00000330255.5 - 6 781 c.769G>C c.(769-771)Gag>Cag p.E257Q DHRS7C_ENST00000571134.1_Missense_Mutation_p.E256Q NM_001105571.2|NM_001220493.1 NP_001099041.1|NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TCCGCCACCTCTACTGGGTGC 0.627000 4 10 0 0 1 0 0 KIAA1598 57698 broad.mit.edu 37 10 118666167 118666167 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:118666167C>T ENST00000355371.4 - 15 1948 c.1451G>A c.(1450-1452)aGa>aAa p.R484K ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000392903.2_Missense_Mutation_p.R484K|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.R424K NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 484 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) TGTCACCTTTCTGCGACGCAA 0.408000 9 21 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61761012 61761012 + Nonsense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:61761012C>A ENST00000577390.1 - 9 2476 c.1522G>T c.(1522-1524)Gga>Tga p.G508* CDH8_ENST00000584337.1_Nonsense_Mutation_p.G508*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.G508*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.G508* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 508 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCGGGTTTTCCATTTTCACAT 0.383000 23 84 2.39556e-15 2.71705e-15 1 1 0 ZPBP 11055 broad.mit.edu 37 7 50129261 50129261 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:50129261C>T ENST00000046087.2 - 2 241 c.172G>A c.(172-174)Gat>Aat p.D58N ZPBP_ENST00000419417.1_Missense_Mutation_p.D58N NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 58 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TTCACTGAATCTTTGGTCAAG 0.274000 5 41 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40997271 40997271 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:40997271C>T ENST00000253799.3 + 1 655 c.628C>T c.(628-630)Cgg>Tgg p.R210W AOC2_ENST00000452774.2_Missense_Mutation_p.R210W NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 210 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TGCCACCCCTCGGGGCTTGCG 0.587000 17 98 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357706 55357706 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:55357706C>G ENST00000524622.1 - 6 722 c.61G>C c.(61-63)Gaa>Caa p.E21Q TESPA1_ENST00000531122.1_Missense_Mutation_p.E21Q|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000449076.1_Missense_Mutation_p.E159Q|TESPA1_ENST00000316577.8_Missense_Mutation_p.E159Q|TESPA1_ENST00000532804.1_Missense_Mutation_p.E21Q NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 159 TCTGCATCTTCTTGCACTTTG 0.453000 16 144 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5958227 5958227 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:5958227C>T ENST00000379999.5 + 11 1853 c.1749C>T c.(1747-1749)ttC>ttT p.F583F FBXO18_ENST00000362091.4_Silent_p.F532F|FBXO18_ENST00000397269.3_Silent_p.F19F NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 532 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGAATCTCTTCAAGTTAACAC 0.468000 9 71 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60740321 60740321 + Missense_Mutation SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:60740321A>T ENST00000261520.4 - 11 2377 c.2143T>A c.(2143-2145)Tat>Aat p.Y715N NARG2_ENST00000439632.1_Missense_Mutation_p.Y578N NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 715 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TCTTCAACATAGTCCTGAAGT 0.343000 3 55 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127644113 127644113 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:127644113C>G ENST00000373555.4 - 21 2419 c.2086G>C c.(2086-2088)Gag>Cag p.E696Q NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 696 GRIP. Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TTAAGGTACTCAAAGTTGATC 0.498000 5 72 0 0 1 0 0 ATP5SL 55101 broad.mit.edu 37 19 41944187 41944187 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:41944187C>T ENST00000221943.9 - 2 156 c.151G>A c.(151-153)Gat>Aat p.D51N ATP5SL_ENST00000592922.2_Missense_Mutation_p.D51N|ATP5SL_ENST00000595425.1_Missense_Mutation_p.D51N|ATP5SL_ENST00000301183.11_Missense_Mutation_p.D57N|ATP5SL_ENST00000597457.1_Missense_Mutation_p.D51N|ATP5SL_ENST00000417807.3_Missense_Mutation_p.D57N|ATP5SL_ENST00000590641.2_Missense_Mutation_p.D57N|ATP5SL_ENST00000438807.3_Missense_Mutation_p.D51N|ATP5SL_ENST00000589970.1_Missense_Mutation_p.D51N NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 51 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 GCCTCCACATCGTAGAAATAG 0.527000 41 96 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625464 31625464 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:31625464C>A ENST00000349552.1 + 8 766 c.766C>A c.(766-768)Ctg>Atg p.L256M NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 256 extracellular region lipid binding CTCGTCGCAGCTGCTGCTCCC 0.557000 12 105 2.27111e-07 2.45205e-07 1 1 0 CCDC57 284001 broad.mit.edu 37 17 80136453 80136453 + Missense_Mutation SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:80136453T>C ENST00000389641.4 - 10 1439 c.1403A>G c.(1402-1404)cAg>cGg p.Q468R CCDC57_ENST00000392347.1_Missense_Mutation_p.Q468R|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.Q468R Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 468 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTGTAGCGCCTGCTCTGTCTC 0.642000 14 35 0 0 1 0 0 MCCC2 64087 broad.mit.edu 37 5 70945948 70945948 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:70945948G>C ENST00000340941.6 + 15 1555 c.1426G>C c.(1426-1428)Gag>Cag p.E476Q MCCC2_ENST00000323375.8_Missense_Mutation_p.E438Q NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 476 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GATGGGAGGAGAGCAGGCAGC 0.458000 5 52 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53421930 53421930 + Silent SNP A A C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:53421930A>C ENST00000262056.9 + 8 1263 c.937A>C c.(937-939)Aga>Cga p.R313R EIF4B_ENST00000420463.3_Silent_p.R313R|EIF4B_ENST00000416762.3_Silent_p.R274R|RP11-983P16.4_ENST00000552905.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 313 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 GTGGAGCTCCAGAGATGATTA 0.473000 5 53 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53571361 53571361 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:53571361C>G ENST00000601421.1 - 3 3194 c.2318G>C c.(2317-2319)aGa>aCa p.R773T ZNF160_ENST00000429604.1_Missense_Mutation_p.R809T|ZNF160_ENST00000418871.1_Missense_Mutation_p.R809T|ZNF160_ENST00000599056.1_Missense_Mutation_p.R809T Q9HCG1 ZN160_HUMAN zinc finger protein 160 809 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GGTATGCATTCTGTGATGACT 0.408000 22 142 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84666306 84666306 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:84666306C>T ENST00000284136.6 - 10 1133 c.1090G>A c.(1090-1092)Gac>Aac p.D364N SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 364 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCTCTGATGTCAGCCATGCTA 0.413000 10 69 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812744 45812744 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:45812744G>A ENST00000358525.4 - 6 1015 c.900C>T c.(898-900)ttC>ttT p.F300F SLC6A20_ENST00000353278.4_Silent_p.F263F|SLC6A20_ENST00000456124.2_Silent_p.F300F NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 300 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGGTGGCCTTGAAGCCATAGA 0.537000 18 43 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28143169 28143169 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:28143169C>G ENST00000316334.3 - 3 781 c.652G>C c.(652-654)Gac>Cac p.D218H NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 218 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CACATACTGTCAGCTCCAGCG 0.473000 18 130 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 77003553 77003553 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:77003553G>C ENST00000355810.4 + 3 765 c.646G>C c.(646-648)Gat>Cat p.D216H ART3_ENST00000341029.5_Missense_Mutation_p.D216H|ART3_ENST00000349321.3_Missense_Mutation_p.D216H|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 216 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AAATTTTCTTGATAAAGAAAG 0.388000 14 53 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103295664 103295664 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:103295664G>C ENST00000376052.3 + 17 2129 c.2113G>C c.(2113-2115)Gaa>Caa p.E705Q TPP2_ENST00000376065.4_Missense_Mutation_p.E705Q P29144 TPP2_HUMAN tripeptidyl peptidase II 705 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCGAAGCCATGAATTCTATAA 0.363000 7 58 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184129224 184129224 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:184129224G>A ENST00000403733.3 + 3 559 c.360G>A c.(358-360)gtG>gtA p.V120V WWC2_ENST00000513834.1_Silent_p.V120V|WWC2_ENST00000448232.2_Silent_p.V120V|WWC2_ENST00000378925.3_Silent_p.V22V NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 120 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TGTACCATGTGAAGGAGCAGA 0.502000 4 31 0 0 1 0 0 ZNF200 7752 broad.mit.edu 37 16 3282848 3282848 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:3282848C>T ENST00000431561.3 - 3 936 c.324G>A c.(322-324)ttG>ttA p.L108L ZNF200_ENST00000575948.1_Silent_p.L108L|ZNF200_ENST00000396871.4_Silent_p.L108L|ZNF200_ENST00000396870.4_Silent_p.L108L|ZNF200_ENST00000396868.3_Silent_p.L108L|ZNF200_ENST00000414144.2_Silent_p.L108L NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 GGTTAGCTTTCAAATACAGAG 0.468000 8 24 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 77003150 77003150 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:77003150G>C ENST00000355810.4 + 3 362 c.243G>C c.(241-243)aaG>aaC p.K81N ART3_ENST00000341029.5_Missense_Mutation_p.K81N|ART3_ENST00000349321.3_Missense_Mutation_p.K81N|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 81 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CAGCCCGAAAGACTCAAATCT 0.413000 19 99 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86890751 86890751 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:86890751C>G ENST00000373119.4 + 9 2046 c.1901C>G c.(1900-1902)tCc>tGc p.S634C KLHL4_ENST00000373114.4_Missense_Mutation_p.S634C NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 634 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AACCATTGCTCCAGGCTTTCT 0.388000 10 36 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36384758 36384758 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:36384758C>T ENST00000373204.4 + 18 2581 c.2368C>T c.(2368-2370)Cga>Tga p.R790* AGO1_ENST00000373206.1_Nonsense_Mutation_p.R715* NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CACTTACGTACGATGCACACG 0.557000 4 31 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6620274 6620274 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:6620274C>A ENST00000264670.6 - 7 1071 c.760G>T c.(760-762)Gac>Tac p.D254Y NSUN2_ENST00000539938.1_Missense_Mutation_p.D18Y|NSUN2_ENST00000506139.1_Missense_Mutation_p.D219Y|NSUN2_ENST00000505264.1_5'UTR NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 254 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TTCCTGCCGTCCACATCTATC 0.483000 8 81 5.4927e-09 6.0129e-09 1 1 0 RRAGD 58528 broad.mit.edu 37 6 90090015 90090015 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:90090015G>A ENST00000369415.4 - 3 792 c.516C>T c.(514-516)atC>atT p.I172I RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Silent_p.I21I NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 172 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CCTCGAAGTTGATGTCAGTAT 0.483000 20 58 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57803410 57803410 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:57803410G>A ENST00000360338.3 + 3 1823 c.1501G>A c.(1501-1503)Gag>Aag p.E501K ZNF460_ENST00000537645.1_Missense_Mutation_p.E460K NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACACTGCAGAGAAGTCCCA 0.547000 13 95 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114534 27114534 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:27114534G>C ENST00000396891.4 - 1 85 c.44C>G c.(43-45)tCg>tGg p.S15W HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.S15W NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 15 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GGCTTTCTTCGAGCCCTTCTT 0.572000 17 143 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42564660 42564660 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:42564660C>T ENST00000359486.3 - 4 6018 c.5882G>A c.(5881-5883)tGa>tAa p.*1961* TCF20_ENST00000335626.4_Intron|TCF20_ENST00000404876.1_Silent_p.*251* NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCCCCCCTCACCCCCGCTC 0.667000 OREG0026603 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738692 102738692 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:102738692G>C ENST00000210633.3 + 7 808 c.730G>C c.(730-732)Gag>Cag p.E244Q MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E244Q|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E244Q|SEMA4G_ENST00000519756.1_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 244 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTTCTTCACGGAGCGTGCCAC 0.602000 3 37 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175618 140175618 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140175618C>T ENST00000526136.1 + 1 1069 c.1069C>T c.(1069-1071)Ctt>Ttt p.L357F PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L357F|PCDHA2_ENST00000520672.2_Missense_Mutation_p.L357F|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTCTCTCACTTCCCATCTC 0.468000 7 63 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431935 67431935 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:67431935C>T ENST00000349015.3 - 8 1243 c.805G>A c.(805-807)Gag>Aag p.E269K ALDH3B2_ENST00000530069.1_Missense_Mutation_p.E269K NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 269 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TTGATGGCCTCGTCCACGCTC 0.652000 22 96 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160969970 160969970 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:160969970G>C ENST00000368026.6 - 5 831 c.557C>G c.(556-558)tCt>tGt p.S186C F11R_ENST00000537746.1_Missense_Mutation_p.S137C|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 186 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GACATAGGAAGAGTTGCTGAA 0.502000 50 91 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134427 128134427 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:128134427G>A ENST00000368250.1 - 5 1620 c.1122C>T c.(1120-1122)ttC>ttT p.F374F THEMIS_ENST00000543064.1_Silent_p.F453F|THEMIS_ENST00000368248.2_Silent_p.F453F|THEMIS_ENST00000537166.1_Silent_p.F418F Q8N1K5 THMS1_HUMAN thymocyte selection associated 453 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGGGCAAACGGAACTGTTTAC 0.488000 14 75 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723307 58723307 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:58723307G>T ENST00000300079.5 + 7 859 c.809G>T c.(808-810)cGa>cTa p.R270L GLYATL1_ENST00000317391.4_Missense_Mutation_p.R239L|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 239 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GAAAAATACCGAAGGACAGGC 0.483000 8 68 0.0381472 0.0385395 1 1 0 UNC50 25972 broad.mit.edu 37 2 99234707 99234707 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:99234707G>A ENST00000409975.1 + 5 1901 c.771G>A c.(769-771)ctG>ctA p.L257L UNC50_ENST00000409347.1_Silent_p.L257L|UNC50_ENST00000357765.2_Silent_p.L240L Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 240 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 GGCTTTCCCTGGCACTGGGAT 0.388000 11 36 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49481208 49481208 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:49481208C>G ENST00000323798.3 - 10 1477 c.1281G>C c.(1279-1281)atG>atC p.M427I GYS1_ENST00000544287.1_Missense_Mutation_p.M60I|GYS1_ENST00000541188.1_Missense_Mutation_p.M347I|GYS1_ENST00000263276.6_Missense_Mutation_p.M363I|GYS1_ENST00000540532.1_3'UTR NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 427 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTCTCTTCATCATAGTGAAGT 0.542000 12 95 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175628 140175628 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140175628C>T ENST00000526136.1 + 1 1079 c.1079C>T c.(1078-1080)tCa>tTa p.S360L PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S360L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S360L|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCCATCTCAGAGAACGCT 0.488000 8 62 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058910 152058910 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:152058910G>T ENST00000368806.1 - 3 1312 c.1248C>A c.(1246-1248)gtC>gtA p.V416V NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 416 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GGGTTTCCAGGACTAGTGGCC 0.448000 8 252 1.12685e-05 1.20504e-05 1 1 0 ZFP3 124961 broad.mit.edu 37 17 4996162 4996162 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:4996162G>C ENST00000318833.3 + 2 1699 c.1363G>C c.(1363-1365)Gag>Cag p.E455Q NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 TAGCGAGTGTGAGAAAACATT 0.398000 14 127 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51523771 51523771 + Nonsense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:51523771G>C ENST00000371117.3 - 61 11428 c.11153C>G c.(11152-11154)tCa>tGa p.S3718* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3718 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GACTCCCTTTGACTGAGTAAC 0.388000 45 108 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121957806 121957806 + Silent SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:121957806A>T ENST00000379692.4 - 4 1846 c.1320T>A c.(1318-1320)acT>acA p.T440T NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 440 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 ATGACTGCTTAGTAGGCCTTG 0.458000 34 268 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47050035 47050035 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:47050035C>T ENST00000450053.3 + 52 8083 c.7904C>T c.(7903-7905)tCa>tTa p.S2635L NBEAL2_ENST00000292309.5_Missense_Mutation_p.S2451L|NBEAL2_ENST00000383740.2_Missense_Mutation_p.S884L NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2635 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CACCTGTATTCAGTCAATGGG 0.607000 24 99 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561232 55561232 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:55561232C>G ENST00000436346.1 - 15 3566 c.2725G>C c.(2725-2727)Gag>Cag p.E909Q AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E909Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E909Q|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E909Q NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 909 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 ATATTTACCTCACGTAGTGTA 0.274000 15 34 0 0 1 0 0 TLX3 30012 broad.mit.edu 37 5 170738600 170738600 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:170738600G>A ENST00000296921.5 + 3 955 c.873G>A c.(871-873)gtG>gtA p.V291V NM_021025.2 NP_066305.2 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 291 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTCCCTGGTGTGAGCCCACC 0.701000 T BCL11B T-ALL 3 7 0 0 1 0 0 TSC22D2 9819 broad.mit.edu 37 3 150127594 150127594 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:150127594C>T ENST00000361875.3 + 1 1473 c.457C>T c.(457-459)Cag>Tag p.Q153* TSC22D2_ENST00000361136.2_Nonsense_Mutation_p.Q153* NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 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) AGCCCCATCTCAGCCTCCCAC 0.677000 12 79 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38027903 38027903 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:38027903G>A ENST00000445217.1 + 4 378 c.343G>A c.(343-345)Gaa>Aaa p.E115K ZNF793_ENST00000542455.1_Missense_Mutation_p.E115K|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.E115K|ZNF793_ENST00000589319.1_Missense_Mutation_p.E115K Q6ZN11 ZN793_HUMAN zinc finger protein 793 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAAAGCTGTGAATATAATAA 0.423000 6 31 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63930724 63930724 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:63930724C>A ENST00000443617.2 - 63 12066 c.11979G>T c.(11977-11979)ctG>ctT p.L3993L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3993 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ATTTACCTCCCAGGTGCCAGT 0.478000 13 43 2.68362e-12 3.01763e-12 1 1 0 GSE1 23199 broad.mit.edu 37 16 85695087 85695087 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:85695087G>A ENST00000253458.7 + 9 2152 c.1976G>A c.(1975-1977)gGa>gAa p.G659E GSE1_ENST00000405402.2_Missense_Mutation_p.G555E|GSE1_ENST00000393243.1_Missense_Mutation_p.G586E NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CCACGAGAGGGAGGGAGCCTG 0.701000 5 16 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923363 150923363 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:150923363C>G ENST00000261800.5 - 9 7337 c.7325G>C c.(7324-7326)tGc>tCc p.C2442S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2442 Cadherin 21. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCTTTTTGCAAAGGTTGAA 0.458000 6 51 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142051264 142051264 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:142051264C>T ENST00000264951.4 - 36 4289 c.4172G>A c.(4171-4173)aGa>aAa p.R1391K XRN1_ENST00000392981.2_Missense_Mutation_p.R1392K NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1391 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ATATTCATCTCTTCTGTTAGA 0.289000 15 56 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897151 153897151 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:153897151G>A ENST00000511601.1 + 12 2896 c.2708G>A c.(2707-2709)cGc>cAc p.R903H FHDC1_ENST00000260008.3_Missense_Mutation_p.R903H Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 903 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GAGAGCATGCGCAAGGTCATG 0.697000 4 35 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64166775 64166775 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:64166775G>A ENST00000395391.1 + 4 1468 c.93G>A c.(91-93)ctG>ctA p.L31L ZNF107_ENST00000423627.1_Silent_p.L31L|ZNF107_ENST00000344930.3_Silent_p.L31L Q9UII5 ZN107_HUMAN zinc finger protein 107 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAGTGACACTGAGAAGATACG 0.348000 12 87 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20362065 20362065 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:20362065C>G ENST00000396138.4 - 2 208 c.142G>C c.(142-144)Gaa>Caa p.E48Q UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000302509.4_5'UTR|UMOD_ENST00000570689.1_5'UTR|UMOD_ENST00000424589.1_5'UTR|UMOD_ENST00000396134.2_5'UTR P07911 UROM_HUMAN uromodulin 0 EGF-like 1. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CCCATCCTTTCTGCTCTTCCC 0.517000 4 45 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462060 50462060 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:50462060C>G ENST00000447370.2 - 7 1293 c.1203G>C c.(1201-1203)ctG>ctC p.L401L SIGLEC11_ENST00000426971.2_Silent_p.L401L NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 401 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GGGTCCAGCTCAGCCTGGCTG 0.662000 14 65 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57859009 57859009 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:57859009C>G ENST00000228682.2 + 5 596 c.505C>G c.(505-507)Cag>Gag p.Q169E GLI1_ENST00000543426.1_Missense_Mutation_p.Q41E|GLI1_ENST00000546141.1_Missense_Mutation_p.Q128E NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 169 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.Q169E(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCCACATCCTCAGTCCCGGGG 0.592000 9 34 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173351811 173351811 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:173351811G>C ENST00000375221.2 + 15 2235 c.2032G>C c.(2032-2034)Gaa>Caa p.E678Q ITGA6_ENST00000409080.1_Missense_Mutation_p.E639Q|ITGA6_ENST00000409532.1_Missense_Mutation_p.E520Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.E639Q|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.E678Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.E634Q P23229 ITA6_HUMAN integrin, alpha 6 678 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CCTTAAACTAGAATATAAATT 0.343000 15 38 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724876 140724876 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:140724876G>C ENST00000253812.6 + 1 1276 c.1276G>C c.(1276-1278)Gat>Cat p.D426H PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGCCTCAGATGGGGGAAG 0.463000 26 89 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45710921 45710921 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:45710921C>G ENST00000355347.4 + 1 232 c.232C>G c.(232-234)Ctc>Gtc p.L78V AIRE_ENST00000291582.5_Intron|AIRE_ENST00000329347.4_Missense_Mutation_p.L78V O43918 AIRE_HUMAN autoimmune regulator 273 HSR. W -> R (in APECED; lack of alpha- galactosidase enzymatic activity; lack of homodimerization). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGAGGTGGCTCTCAGGAGGGT 0.627000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 9 77 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66631569 66631569 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:66631569C>G ENST00000401827.3 - 13 1848 c.1405G>C c.(1405-1407)Gag>Cag p.E469Q PDE7A_ENST00000379419.4_Missense_Mutation_p.E443Q NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 469 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GAGTTCAACTCAAATGCAGCA 0.483000 5 55 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242148969 242148969 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:242148969C>T ENST00000274979.8 + 13 1543 c.1440C>T c.(1438-1440)atC>atT p.I480I ANO7_ENST00000402430.3_Silent_p.I479I NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 480 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CGAACCCCATCACGGGTGAGG 0.701000 6 8 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21985168 21985168 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:21985168G>A ENST00000381418.4 - 3 2267 c.787C>T c.(787-789)Cct>Tct p.P263S HR_ENST00000312841.8_Missense_Mutation_p.P263S NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 263 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGCGGGCAAGGATTCTGCTGC 0.642000 13 89 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3839580 3839580 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:3839580G>A ENST00000309890.7 - 16 2655 c.2505C>T c.(2503-2505)ttC>ttT p.F835F ATP2A3_ENST00000397035.3_Silent_p.F835F|ATP2A3_ENST00000397043.3_Silent_p.F835F|ATP2A3_ENST00000397039.1_Silent_p.F19F|ATP2A3_ENST00000359983.3_Silent_p.F835F|ATP2A3_ENST00000397041.3_Silent_p.F835F|ATP2A3_ENST00000352011.3_Silent_p.F835F NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 835 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCAGGTATCGGAAGAAGAGCC 0.597000 37 50 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842306 227842306 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:227842306C>G ENST00000343776.5 + 4 700 c.355C>G c.(355-357)Cat>Gat p.H119D ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H174D NM_178549.3 NP_848644.2 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TAAGAGAATTCATACTGGAGA 0.338000 26 49 0 0 1 0 0 TFAP2A 7020 broad.mit.edu 37 6 10398662 10398662 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:10398662C>G ENST00000379613.3 - 7 1564 c.1308G>C c.(1306-1308)aaG>aaC p.K436N TFAP2A_ENST00000379604.2_Missense_Mutation_p.K434N|TFAP2A_ENST00000482890.1_Missense_Mutation_p.K434N|TFAP2A_ENST00000319516.4_Missense_Mutation_p.K430N|TFAP2A_ENST00000379608.3_Missense_Mutation_p.K428N P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 434 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) ACTTTCTGTGCTTCTCCTCTT 0.632000 39 280 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155029461 155029461 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:155029461C>A ENST00000356955.2 + 11 1133 c.1032C>A c.(1030-1032)tcC>tcA p.S344S ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Silent_p.S344S|ADAM15_ENST00000360674.4_Silent_p.S344S|ADAM15_ENST00000531455.1_Silent_p.S354S|ADAM15_ENST00000355956.2_Silent_p.S344S|ADAM15_ENST00000271836.6_Silent_p.S344S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Silent_p.S328S|ADAM15_ENST00000449910.2_Silent_p.S344S|ADAM15_ENST00000359280.4_Silent_p.S344S NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 344 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GAGTCGCCTCCTCCATAGCCC 0.622000 15 75 6.31663e-08 6.85755e-08 1 1 0 SLC16A2 6567 broad.mit.edu 37 X 73744291 73744291 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:73744291C>T ENST00000276033.5 + 3 1061 c.895C>T c.(895-897)Caa>Taa p.Q299* SLC16A2_ENST00000587091.1_Nonsense_Mutation_p.Q225* P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 225 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) CCACTACTTTCAACGCCGCCT 0.547000 8 26 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1262147 1262147 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:1262147G>A ENST00000447027.1 + 31 4104 c.4046G>A c.(4045-4047)gGg>gAg p.G1349E MUC5B_ENST00000529681.1_Missense_Mutation_p.G1346E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1346 7 X Cys-rich subdomain repeats. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGGTACAATGGGCACCGCCCA 0.652000 9 17 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47614908 47614908 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:47614908G>T ENST00000371917.4 + 25 3298 c.3298G>T c.(3298-3300)Gat>Tat p.D1100Y ARFGEF2_ENST00000493140.1_3'UTR NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1100 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGTGTCCATGGATGAACTGGC 0.517000 24 119 1.64293e-13 1.85538e-13 1 1 0 TMEM56 148534 broad.mit.edu 37 1 95657184 95657184 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:95657184C>T ENST00000370203.4 + 7 843 c.552C>T c.(550-552)ttC>ttT p.F184F RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 184 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CAGTAGTATTCTTCATCGTGC 0.378000 29 122 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113355431 113355431 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:113355431G>C ENST00000452357.2 + 5 1154 c.964G>C c.(964-966)Gag>Cag p.E322Q RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000202917.5_Missense_Mutation_p.E322Q|OAS1_ENST00000445409.2_Missense_Mutation_p.E322Q|OAS1_ENST00000551241.1_Missense_Mutation_p.E322Q NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 322 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GCTGGCACAAGAGGCTGAGGC 0.582000 18 134 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118501939 118501939 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:118501939G>C ENST00000361417.2 + 8 2254 c.1843G>C c.(1843-1845)Gag>Cag p.E615Q PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E615Q NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 615 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCAGCGCCTGGAGACCATCCT 0.622000 34 154 0 0 1 0 0 FGF1 2246 broad.mit.edu 37 5 141993686 141993686 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:141993686C>T ENST00000359370.6 - 2 86 c.7G>A c.(7-9)Gaa>Aaa p.E3K AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000407758.1_Missense_Mutation_p.E3K|FGF1_ENST00000419524.2_Missense_Mutation_p.E3K|FGF1_ENST00000378046.1_Missense_Mutation_p.E3K|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.E3K|FGF1_ENST00000360966.5_Missense_Mutation_p.E3K NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 3 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) ATTTCCCCTTCAGCCATGGCT 0.498000 7 54 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14482837 14482837 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:14482837G>C ENST00000344204.4 + 46 6636 c.6612G>C c.(6610-6612)aaG>aaC p.K2204N TRIO_ENST00000537187.1_Missense_Mutation_p.K2204N NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2204 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTGATAAAAAGAAGGGCTTCT 0.502000 41 101 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617619 183617619 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:183617619C>G ENST00000308641.4 - 2 569 c.298G>C c.(298-300)Gaa>Caa p.E100Q APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 100 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 CCATTCATTTCAAAGAGCATT 0.398000 14 152 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72281217 72281217 + RNA SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:72281217G>A ENST00000438904.2 - 0 370 TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AGTGTATGTCGCAACCAGGAA 0.408000 18 98 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134259 128134259 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:128134259C>G ENST00000368250.1 - 5 1788 c.1290G>C c.(1288-1290)ttG>ttC p.L430F THEMIS_ENST00000543064.1_Missense_Mutation_p.L509F|THEMIS_ENST00000368248.2_Missense_Mutation_p.L509F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L474F Q8N1K5 THMS1_HUMAN thymocyte selection associated 509 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CAGTCATATTCAAGCGGCCCA 0.453000 13 77 0 0 1 0 0 ZNF674 641339 broad.mit.edu 37 X 46359822 46359822 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:46359822G>C ENST00000523374.1 - 6 1412 c.1202C>G c.(1201-1203)tCt>tGt p.S401C ZNF674_ENST00000414387.2_Missense_Mutation_p.S395C NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 CTGATGAACAGAGAGGTGTGA 0.408000 16 47 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602692 96602692 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:96602692G>T ENST00000371321.3 + 7 1142 c.1060G>T c.(1060-1062)Gag>Tag p.E354* CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 354 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGTGGTGCACGAGGTCCAGAG 0.532000 23 93 3.5997e-14 4.07689e-14 1 1 0 MANBAL 63905 broad.mit.edu 37 20 35929739 35929739 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:35929739G>A ENST00000373605.3 + 3 885 c.73G>A c.(73-75)Gga>Aga p.G25R MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 25 integral to membrane large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 Myeloproliferative disorder(115;0.00878) GCTACGGTACGGACTCTTCCT 0.597000 15 76 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67201124 67201124 + Splice_Site SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:67201124C>G ENST00000264009.8 + 9 1693 c.728C>G c.(727-729)tCg>tGg p.S243W HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000421453.1_Splice_Site_p.S243W|HSF4_ENST00000521374.1_Splice_Site_p.S243W|HSF4_ENST00000584272.1_Splice_Site_p.S243W NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 243 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) TTCATCCAGTCGGTAGGTTTG 0.562000 12 33 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982637 75982637 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:75982637C>G ENST00000308508.5 - 3 861 c.769G>C c.(769-771)Gag>Cag p.E257Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 257 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGGTGGCCCTCAAATATGTCC 0.617000 12 27 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154173482 154173482 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:154173482G>A ENST00000336314.4 + 6 784 c.760G>A c.(760-762)Ggt>Agt p.G254S NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 331 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGATGGGGCTGGTGGGGCGCG 0.706000 10 63 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121575857 121575857 + Splice_Site SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:121575857G>A ENST00000273668.2 + 4 409 c.e4-1 EAF2_ENST00000451944.2_Splice_Site NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CTTAATTGCAGAGTTGAAGGA 0.323000 10 64 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63473153 63473153 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:63473153C>G ENST00000322893.7 - 3 503 c.235G>C c.(235-237)Gag>Cag p.E79Q KCNH5_ENST00000394968.1_Missense_Mutation_p.E21Q|KCNH5_ENST00000394964.2_Missense_Mutation_p.E21Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.E79Q NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 79 PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTGACTTTCTCAATGGTCTTC 0.353000 12 63 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65548157 65548157 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:65548157G>A ENST00000304874.9 + 6 544 c.442G>A c.(442-444)Gag>Aag p.E148K ASL_ENST00000380839.4_Missense_Mutation_p.E148K|ASL_ENST00000395331.3_Missense_Mutation_p.E148K|ASL_ENST00000395332.3_Missense_Mutation_p.E148K NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 148 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GGATCGGGCAGAGGCGTGAGT 0.637000 3 28 0 0 1 0 0 CXorf65 158830 broad.mit.edu 37 X 70324223 70324223 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:70324223C>A ENST00000374251.5 - 5 399 c.351G>T c.(349-351)gaG>gaT p.E117D NM_001025265.2 NP_001020436.1 A6NEN9 CX065_HUMAN chromosome X open reading frame 65 breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3) 10 TTCGTCTCCTCTCCAGGGCAT 0.478000 4 6 1.23904e-05 1.32142e-05 1 1 0 ATF6B 1388 broad.mit.edu 37 6 32085711 32085711 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:32085711C>A ENST00000375201.4 - 12 1385 c.1340G>T c.(1339-1341)gGa>gTa p.G447V ATF6B_ENST00000375203.3_Missense_Mutation_p.G450V Q99941 ATF6B_HUMAN activating transcription factor 6 beta 450 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 AGGTTCAACTCCCTGAACTGG 0.627000 8 17 2.17888e-05 2.31745e-05 1 1 0 KIAA0586 9786 broad.mit.edu 37 14 59014596 59014596 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:59014596G>A ENST00000354386.6 + 34 5081 c.4837G>A c.(4837-4839)Gag>Aag p.E1613K KIAA0586_ENST00000556134.1_Silent_p.L1516L|KIAA0586_ENST00000423743.3_Silent_p.L1487L|KIAA0586_ENST00000261244.5_Silent_p.L1455L NM_001244189.1 NP_001231118.1 E9PGW8 E9PGW8_HUMAN KIAA0586 0 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCAGTCTCTGAGTCTCAGCA 0.547000 14 70 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46611757 46611757 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:46611757G>A ENST00000263734.3 + 16 3081 c.2571G>A c.(2569-2571)ctG>ctA p.L857L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 857 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CCACGCTCCTGCAAGGAGGGG 0.647000 3 50 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99823857 99823857 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:99823857C>G ENST00000254759.3 - 5 712 c.688G>C c.(688-690)Gat>Cat p.D230H COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 230 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) GTTTCTAGATCAATCACATGT 0.378000 18 65 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7606646 7606646 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:7606646G>T ENST00000316024.5 + 10 3837 c.1489G>T c.(1489-1491)Gag>Tag p.E497* WRAP53_ENST00000396463.2_Nonsense_Mutation_p.E497*|WRAP53_ENST00000457584.2_Nonsense_Mutation_p.E497*|WRAP53_ENST00000431639.2_Nonsense_Mutation_p.E497*|WRAP53_ENST00000534050.1_Nonsense_Mutation_p.E464* Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 497 E -> G (in Ref. 2; BAG51781). positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CGAAGGAGAGGAGCTGGGCCT 0.642000 6 53 0.00198382 0.00203296 1 1 0 GCKR 2646 broad.mit.edu 37 2 27745440 27745440 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:27745440G>C ENST00000264717.2 + 18 1749 c.1686G>C c.(1684-1686)caG>caC p.Q562H GCKR_ENST00000424318.2_Missense_Mutation_p.Q372H NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 562 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) GCCATGTCCAGGTTGCACATG 0.522000 43 51 0 0 1 0 0 SOD2 6648 broad.mit.edu 37 6 160109251 160109251 + Missense_Mutation SNP G G C rs11575993 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:160109251G>C ENST00000538183.2 - 3 410 c.250C>G c.(250-252)Ctt>Gtt p.L84V SOD2_ENST00000367054.2_Intron|SOD2_ENST00000337404.4_Intron|SOD2_ENST00000367055.4_Missense_Mutation_p.L84V|SOD2_ENST00000546087.1_Missense_Mutation_p.L38V|SOD2_ENST00000444946.2_Missense_Mutation_p.L84V NM_000636.2 NP_000627.2 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) GCAGGCTGAAGAGCTATCTGG 0.388000 14 110 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150737372 150737372 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:150737372C>T ENST00000358849.4 + 10 1328 c.1235C>T c.(1234-1236)tCt>tTt p.S412F ABCB8_ENST00000542328.1_Missense_Mutation_p.S324F|ABCB8_ENST00000356058.4_Silent_p.L450L|ABCB8_ENST00000297504.6_Missense_Mutation_p.S429F|ABCB8_ENST00000498578.1_Missense_Mutation_p.S412F NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 429 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAACCTCTCTGTCCTGTTT 0.612000 15 130 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730541 57730541 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:57730541G>C ENST00000281282.5 + 2 422 c.344G>C c.(343-345)aGa>aCa p.R115T NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 115 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGCCCAATAAGAAACCTGAAA 0.493000 10 70 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18022456 18022456 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:18022456G>A ENST00000400573.5 + 16 2565 c.2558G>A c.(2557-2559)gGa>gAa p.G853E CECR2_ENST00000262608.8_Missense_Mutation_p.G854E|CECR2_ENST00000400585.2_Missense_Mutation_p.G712E Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGGGTGCAGGGAGGGGACTCC 0.642000 13 59 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79840902 79840902 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:79840902G>A ENST00000360280.3 + 14 1482 c.1222G>A c.(1222-1224)Gag>Aag p.E408K VPS13A_ENST00000376636.3_Missense_Mutation_p.E408K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E408K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E408K NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 408 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGCAGAAGTTGAGGTAATTCT 0.274000 23 118 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:178938934G>A ENST00000263967.3 + 14 2333 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 726 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E726K(8) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAGAAGGATGAAACACAAAA 0.428000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 35 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49867893 49867893 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:49867893C>G ENST00000221498.2 + 2 470 c.65C>G c.(64-66)tCt>tGt p.S22C DKKL1_ENST00000594268.1_Intron NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 22 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CTGCTCCTCTCTACCCTGGTG 0.662000 9 48 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123252623 123252623 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:123252623G>C ENST00000264501.4 + 67 11765 c.11392G>C c.(11392-11394)Gaa>Caa p.E3798Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3798Q Q2LD37 K1109_HUMAN KIAA1109 3798 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TATACGGGTTGAAATTGATAG 0.383000 15 53 0 0 1 0 0 FKBP3 2287 broad.mit.edu 37 14 45590721 45590721 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:45590721C>A ENST00000216330.3 - 5 831 c.421G>T c.(421-423)Gat>Tat p.D141Y FKBP3_ENST00000396062.3_Missense_Mutation_p.D141Y Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 141 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 ACAGTCCCATCTTGTAGTGTT 0.348000 10 71 3.86212e-05 4.08014e-05 1 1 0 KBTBD4 55709 broad.mit.edu 37 11 47598965 47598965 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:47598965G>A ENST00000533290.1 - 1 1376 c.662C>T c.(661-663)tCg>tTg p.S221L KBTBD4_ENST00000525720.1_Missense_Mutation_p.S245L|KBTBD4_ENST00000526005.1_Missense_Mutation_p.S196L|KBTBD4_ENST00000395288.2_Missense_Mutation_p.S196L|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.S212L Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 196 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 AAACTTACCCGAGATGATATC 0.498000 24 26 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127821577 127821577 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:127821577G>C ENST00000316724.5 - 8 1041 c.630C>G c.(628-630)atC>atG p.I210M BIN1_ENST00000393040.3_Missense_Mutation_p.I179M|BIN1_ENST00000357970.3_Missense_Mutation_p.I210M|BIN1_ENST00000351659.3_Missense_Mutation_p.I210M|BIN1_ENST00000348750.4_Missense_Mutation_p.I179M|BIN1_ENST00000376113.2_Missense_Mutation_p.I179M|BIN1_ENST00000352848.3_Missense_Mutation_p.I179M|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Missense_Mutation_p.I179M|BIN1_ENST00000346226.3_Missense_Mutation_p.I179M|BIN1_ENST00000409400.1_Missense_Mutation_p.I179M|BIN1_ENST00000393041.3_Missense_Mutation_p.I179M NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 210 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TCTGGGCTTTGATGAGCTCCT 0.657000 11 44 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7367107 7367107 + Silent SNP C C T rs141897027 byFrequency TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:7367107C>T ENST00000311403.4 - 4 1533 c.1194G>A c.(1192-1194)gaG>gaA p.E398E ZBTB4_ENST00000380599.4_Silent_p.E398E NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 398 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) TGGGTGTCTTCTCACTGGCAA 0.572000 18 113 0 0 1 0 0 ZNF547 284306 broad.mit.edu 37 19 57889289 57889289 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:57889289G>T ENST00000282282.3 + 4 1095 c.945G>T c.(943-945)caG>caT p.Q315H AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTAGACATCAGAGAGTTCACA 0.413000 15 111 2.31682e-05 2.45752e-05 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56552342 56552342 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:56552342C>T ENST00000390649.3 + 11 2841 c.2841C>T c.(2839-2841)ctC>ctT p.L947L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 947 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCTCAGCCCTCGTCAGCAACC 0.552000 6 71 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52645825 52645825 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:52645825C>T ENST00000399231.3 - 27 3841 c.3598G>A c.(3598-3600)Gaa>Aaa p.E1200K MYO5A_ENST00000399233.2_Missense_Mutation_p.E1200K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1200K NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1200 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TATTCCAGTTCTGCACCTCTA 0.353000 7 79 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120796783 120796783 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:120796783G>C ENST00000369144.3 - 21 3894 c.3767C>G c.(3766-3768)tCt>tGt p.S1256C EIF3A_ENST00000541549.1_Missense_Mutation_p.S1222C NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1256 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCAGCTTGAAGATTCCTCAGC 0.493000 10 51 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92712659 92712659 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:92712659C>G ENST00000370360.3 - 18 1709 c.1628G>C c.(1627-1629)gGa>gCa p.G543A GLMN_ENST00000534881.1_Missense_Mutation_p.G529A NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 543 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) GATCTCTTCTCCACTTACAGT 0.358000 Multiple Glomus Tumors (of the Skin), Familial 25 131 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96777540 96777540 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:96777540G>A ENST00000359933.4 - 28 4968 c.4075C>T c.(4075-4077)Ctc>Ttc p.L1359F ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1359 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TACTGAATGAGATTCATTAAC 0.463000 20 144 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167293820 167293820 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:167293820G>T ENST00000308378.3 - 4 677 c.372C>A c.(370-372)ttC>ttA p.F124L WDR49_ENST00000479765.1_Missense_Mutation_p.F465L|WDR49_ENST00000453925.2_Missense_Mutation_p.F177L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 124 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TAAACGAGATGAAAAGTCGTC 0.433000 13 96 9.05144e-12 1.01201e-11 1 1 0 KRT27 342574 broad.mit.edu 37 17 38935997 38935997 + Silent SNP G G A rs139309635 byFrequency TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:38935997G>A ENST00000301656.3 - 4 841 c.801C>T c.(799-801)ctC>ctT p.L267L NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 267 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) TCTGCTCTGCGAGGGCTTCGT 0.642000 15 44 0 0 1 0 0 PSORS1C2 170680 broad.mit.edu 37 6 31105959 31105959 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:31105959G>C ENST00000259845.4 - 2 503 c.180C>G c.(178-180)ctC>ctG p.L60L PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000547221.1_Intron NM_014069.2 NP_054788.2 Q9UIG4 PS1C2_HUMAN psoriasis susceptibility 1 candidate 2 60 extracellular region NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GATCTTCAAAGAGAGGGGGTG 0.657000 5 35 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104707078 104707078 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:104707078C>G ENST00000526691.1 + 4 755 c.299C>G c.(298-300)cCt>cGt p.P100R TXNRD1_ENST00000526950.1_Missense_Mutation_p.P117R|TXNRD1_ENST00000427956.1_Missense_Mutation_p.P163R|TXNRD1_ENST00000503506.2_Missense_Mutation_p.P48R|TXNRD1_ENST00000429002.2_Missense_Mutation_p.P198R|TXNRD1_ENST00000397736.2_Missense_Mutation_p.P92R|TXNRD1_ENST00000524698.1_Missense_Mutation_p.P48R|TXNRD1_ENST00000526390.1_Missense_Mutation_p.P92R|TXNRD1_ENST00000529546.1_Missense_Mutation_p.P10R|TXNRD1_ENST00000354940.6_Missense_Mutation_p.P48R|TXNRD1_ENST00000525566.1_Missense_Mutation_p.P198R|TXNRD1_ENST00000540716.1_Missense_Mutation_p.P10R|TXNRD1_ENST00000542918.1_Missense_Mutation_p.P98R|TXNRD1_ENST00000388854.3_Missense_Mutation_p.P100R|TXNRD1_ENST00000378070.4_Missense_Mutation_p.P147R NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 198 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 ACTCCCACCCCTCTTGGAACT 0.423000 6 10 0 0 1 0 0 PXMP4 11264 broad.mit.edu 37 20 32295584 32295584 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:32295584G>C ENST00000409299.3 - 4 659 c.567C>G c.(565-567)ctC>ctG p.L189L PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 189 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TGTCCTCATAGAGGTAGGTCA 0.572000 35 129 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1520731 1520731 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:1520731C>T ENST00000345913.4 + 15 2686 c.2595C>T c.(2593-2595)ctC>ctT p.L865L TPO_ENST00000382198.1_Silent_p.L692L|TPO_ENST00000349624.3_Silent_p.L692L|TPO_ENST00000346956.3_Silent_p.L821L|TPO_ENST00000329066.4_Silent_p.L865L|TPO_ENST00000382201.3_Silent_p.L808L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.L865L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 865 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCGCAGGTCTCACCTCGACGG 0.547000 5 46 0 0 1 0 0 PYCRL 65263 broad.mit.edu 37 8 144688028 144688028 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:144688028C>T ENST00000220966.6 - 6 732 c.703G>A c.(703-705)Gag>Aag p.E235K PYCRL_ENST00000377579.3_Missense_Mutation_p.E86K|PYCRL_ENST00000495276.1_5'UTR NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 223 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TGTTGGCCCTCGTGCAGCAGC 0.697000 4 50 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920665 4920665 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:4920665G>T ENST00000433855.1 + 1 2324 c.1458G>T c.(1456-1458)gcG>gcT p.A486A KCNA6_ENST00000280684.3_Silent_p.A486A NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 486 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGCAGCCTGCGCCGGACCTGA 0.607000 HNSCC(72;0.22) 6 66 0.000157383 0.000164499 1 1 0 ZNF777 27153 broad.mit.edu 37 7 149129916 149129916 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:149129916C>G ENST00000247930.4 - 6 1770 c.1447G>C c.(1447-1449)Gag>Cag p.E483Q NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ATACTGGCCTCATATCTCCCG 0.622000 6 14 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072903 134072903 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:134072903G>A ENST00000264360.5 + 1 2434 c.1608G>A c.(1606-1608)ctG>ctA p.L536L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATGAGCAGCTGAAGGACTTCA 0.552000 18 136 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29684693 29684693 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:29684693G>C ENST00000397938.2 + 8 1211 c.892G>C c.(892-894)Gat>Cat p.D298H EWSR1_ENST00000332035.6_Missense_Mutation_p.D242H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D304H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D298H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D298H|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.D298H NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.D298N(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGTGGCCCTGATAACCGGGG 0.587000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 15 70 0 0 1 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22142464 22142464 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:22142464G>A ENST00000344642.2 + 3 727 c.540G>A c.(538-540)caG>caA p.Q180Q LDLRAD2_ENST00000543870.1_Silent_p.Q180Q NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 180 LDL-receptor class A. integral to membrane receptor activity endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) TCCGCTGCCAGAATGGCAGGT 0.627000 18 50 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111650798 111650798 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:111650798C>A ENST00000435970.1 - 27 8760 c.7944G>T c.(7942-7944)ctG>ctT p.L2648L REV3L_ENST00000368805.1_Silent_p.L2726L|REV3L_ENST00000368802.3_Silent_p.L2726L|REV3L_ENST00000358835.3_Silent_p.L2726L O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2726 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CATTTGCTATCAGCTTAAGTC 0.403000 DNA polymerases (catalytic subunits) 21 92 1.22574e-08 1.3381e-08 1 1 0 MET 4233 broad.mit.edu 37 7 116339307 116339307 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:116339307C>G ENST00000397752.3 + 2 369 c.169C>G c.(169-171)Cta>Gta p.L57V MET_ENST00000318493.6_Missense_Mutation_p.L57V|MET_ENST00000436117.2_Missense_Mutation_p.L57V NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 57 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GAATGTCATTCTACATGAGCA 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 12 102 0 0 1 0 0 RHEBL1 121268 broad.mit.edu 37 12 49462822 49462822 + Silent SNP C C T rs150728495 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:49462822C>T ENST00000301068.6 - 2 359 c.120G>A c.(118-120)gaG>gaA p.E40E NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 40 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 ACTCACTATTCTCCACTGTAG 0.507000 19 112 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464732 37464732 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:37464732G>A ENST00000299824.1 + 2 353 c.164G>A c.(163-165)cGc>cAc p.R55H PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R55H NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 55 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GAGCGGAAGCGCAGCACGGGC 0.672000 8 21 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808556 77808556 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:77808556C>G ENST00000269397.4 - 5 1062 c.885G>C c.(883-885)aaG>aaC p.K295N NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 295 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTGCCCGCTTCTTGTGGCTGG 0.637000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 130 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22472973 22472973 + RNA SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:22472973G>T ENST00000557788.2 - 0 297 CTCAGCTTCAGGGAGAACTGG 0.552000 32 309 1.45844e-13 1.6494e-13 1 1 0 PRTG 283659 broad.mit.edu 37 15 55970094 55970094 + Nonsense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:55970094C>A ENST00000389286.4 - 8 1329 c.1282G>T c.(1282-1284)Gaa>Taa p.E428* NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 428 Fibronectin type-III 1. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GACATGGTTTCAGCATGTACA 0.438000 15 91 2.23348e-06 2.39825e-06 1 1 0 RABEP1 9135 broad.mit.edu 37 17 5235304 5235304 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:5235304G>A ENST00000262477.6 + 3 448 c.224G>A c.(223-225)cGa>cAa p.R75Q RABEP1_ENST00000537505.1_Missense_Mutation_p.R32Q|RABEP1_ENST00000341923.6_Missense_Mutation_p.R75Q|RABEP1_ENST00000408982.2_Missense_Mutation_p.R75Q|RABEP1_ENST00000546142.2_Missense_Mutation_p.R75Q NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 75 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGACACCTTCGAACCCAGCTG 0.423000 14 95 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645513 70645513 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:70645513C>G ENST00000298596.6 + 3 2044 c.1961C>G c.(1960-1962)tCt>tGt p.S654C STOX1_ENST00000421961.2_Missense_Mutation_p.S544C|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.S654C NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 654 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 CGAACACCCTCTGCTTGTAGA 0.453000 3 100 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135304345 135304345 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:135304345C>G ENST00000285968.6 + 29 4164 c.4138C>G c.(4138-4140)Cct>Gct p.P1380A NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1380 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 CTCACCTCCTCCTGAAGAGAA 0.428000 10 69 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070103 60070103 + Silent SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:60070103T>C ENST00000355131.3 + 6 625 c.402T>C c.(400-402)ttT>ttC p.F134F MS4A4A_ENST00000337908.4_Silent_p.F153F|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Silent_p.F134F NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 153 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TCAACACATTTAGCTTGGCGT 0.393000 5 180 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34572561 34572561 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:34572561C>A ENST00000373973.3 + 6 750 c.577C>A c.(577-579)Ctg>Atg p.L193M CNBD2_ENST00000538900.1_Missense_Mutation_p.L193M|CNBD2_ENST00000349339.1_Missense_Mutation_p.L193M cyclic nucleotide binding domain containing 2 AATGGACGTTCTGCATGCTTC 0.537000 9 66 5.4927e-09 6.0129e-09 1 1 0 CHD4 1108 broad.mit.edu 37 12 6709469 6709469 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:6709469C>G ENST00000309577.6 - 9 1319 c.1156G>C c.(1156-1158)Gat>Cat p.D386H CHD4_ENST00000357008.2_Missense_Mutation_p.D386H|CHD4_ENST00000544040.1_Missense_Mutation_p.D379H|CHD4_ENST00000544484.1_Missense_Mutation_p.D383H Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 386 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGACAGGTATCACACAGGATG 0.597000 10 78 0 0 1 0 0 LRWD1 222229 broad.mit.edu 37 7 102113218 102113218 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:102113218C>T ENST00000292616.5 + 14 1922 c.1770C>T c.(1768-1770)ccC>ccT p.P590P NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 590 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 AGCAGCCACCCCTGCTGCCGG 0.652000 4 23 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19379666 19379666 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:19379666G>T ENST00000263208.5 - 9 1150 c.894C>A c.(892-894)tgC>tgA p.C298* HIRA_ENST00000546308.1_Nonsense_Mutation_p.C254*|HIRA_ENST00000340170.4_Nonsense_Mutation_p.C298*|HIRA_ENST00000541063.1_Nonsense_Mutation_p.C254* NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 298 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CAGCACAGCAGCAGTACGGGC 0.468000 5 38 0.000157383 0.000164499 1 1 0 MACF1 23499 broad.mit.edu 37 1 39907633 39907633 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:39907633G>C ENST00000564288.1 + 75 19459 c.18682G>C c.(18682-18684)Gac>Cac p.D6228H MACF1_ENST00000539005.1_Missense_Mutation_p.D4039H|MACF1_ENST00000372915.3_Missense_Mutation_p.D6127H|MACF1_ENST00000545844.1_Missense_Mutation_p.D4169H|MACF1_ENST00000361689.2_Missense_Mutation_p.D4169H|MACF1_ENST00000289893.4_Missense_Mutation_p.D4671H|MACF1_ENST00000567887.1_Missense_Mutation_p.D6265H|MACF1_ENST00000317713.7_Missense_Mutation_p.D4169H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6237 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCTATGTTTGACTGGCTAGA 0.363000 22 75 0 0 1 0 0 SCFD1 23256 broad.mit.edu 37 14 31204796 31204796 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:31204796C>T ENST00000458591.2 + 25 2137 c.1910C>T c.(1909-1911)tCa>tTa p.S637L SCFD1_ENST00000541123.1_Missense_Mutation_p.S452L|SCFD1_ENST00000396629.2_Missense_Mutation_p.S545L|SCFD1_ENST00000544052.2_Missense_Mutation_p.S570L|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000421551.3_Missense_Mutation_p.S578L NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 637 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) TTTTAGTTGTCACAACTTGGA 0.264000 33 111 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50074507 50074507 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:50074507C>G ENST00000298288.6 + 3 996 c.672C>G c.(670-672)ctC>ctG p.L224L LRR1_ENST00000318317.4_Intron NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 224 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATTCTACACTCCAGAAGTCAC 0.433000 32 48 0 0 1 0 0 FAM96B 51647 broad.mit.edu 37 16 66968229 66968229 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:66968229C>G ENST00000422424.2 - 1 74 c.39G>C c.(37-39)gaG>gaC p.E13D NM_016062.3 NP_057146.1 Q9Y3D0 MIP18_HUMAN family with sequence similarity 96, member B 13 chromosome segregation cytoplasm|MMXD complex|nucleus protein binding kidney(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GGTTGGCATTCTCCAGGAGGC 0.692000 5 19 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605171 48605171 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:48605171G>T ENST00000328333.8 - 107 8062 c.7955C>A c.(7954-7956)cCc>cAc p.P2652H COL7A1_ENST00000454817.1_Missense_Mutation_p.P2620H NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2652 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCCAGCCCGGGGCGGCCTGG 0.652000 16 75 2.35188e-11 2.61838e-11 1 1 0 ZBTB49 166793 broad.mit.edu 37 4 4322864 4322864 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:4322864G>A ENST00000337872.4 + 8 2240 c.2119G>A c.(2119-2121)Gat>Aat p.D707N ZBTB49_ENST00000538529.1_Missense_Mutation_p.D190N|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D585N NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 707 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 ACTGCAGGCCGATGGCATGGC 0.592000 8 55 0 0 1 0 0 MRPL15 29088 broad.mit.edu 37 8 55049831 55049831 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:55049831C>T ENST00000260102.4 + 3 341 c.267C>T c.(265-267)ttC>ttT p.F89F NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 89 translation large ribosomal subunit|mitochondrion structural constituent of ribosome endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) TTTACAGTTTCAGACGCCAGT 0.388000 9 87 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64519346 64519346 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:64519346G>T ENST00000358025.3 + 48 8945 c.8715G>T c.(8713-8715)ctG>ctT p.L2905L SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L2905L|SYNE2_ENST00000554584.1_Silent_p.L2938L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2905 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATGAGGAGCTGAATGTGTTTG 0.358000 6 22 0.00116845 0.00120367 1 1 0 MCF2 4168 broad.mit.edu 37 X 138708450 138708450 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:138708450G>A ENST00000520602.1 - 9 1054 c.769C>T c.(769-771)Cat>Tat p.H257Y MCF2_ENST00000370578.4_Missense_Mutation_p.H342Y|MCF2_ENST00000536274.1_Missense_Mutation_p.H158Y|MCF2_ENST00000338585.6_Missense_Mutation_p.H197Y|MCF2_ENST00000370576.4_Missense_Mutation_p.H197Y|MCF2_ENST00000519895.1_Missense_Mutation_p.H257Y|MCF2_ENST00000414978.1_Missense_Mutation_p.H257Y|MCF2_ENST00000370573.4_Missense_Mutation_p.H197Y P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 197 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TCCATATCATGTACTTGAGTC 0.343000 13 47 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129963118 129963118 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:129963118G>C ENST00000368149.2 - 2 247 c.159C>G c.(157-159)atC>atG p.I53M NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 53 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CCATAACTTTGATGGTGGTGC 0.373000 25 96 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215914405 215914405 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:215914405G>C ENST00000272895.7 - 6 857 c.638C>G c.(637-639)tCt>tGt p.S213C NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 213 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) GGTCATGTTAGAAAGGCAAAA 0.373000 15 38 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50402112 50402112 + Missense_Mutation SNP G G C rs145220538 byFrequency TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:50402112G>C ENST00000394688.3 - 2 306 c.147C>G c.(145-147)ttC>ttG p.F49L BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.F49L Q9NPI1 BRD7_HUMAN bromodomain containing 7 49 Lys-rich. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) TTTTGTCTTCGAAGAGGCTGG 0.498000 30 165 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56136502 56136502 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:56136502C>T ENST00000319441.4 + 2 199 c.35C>T c.(34-36)tCg>tTg p.S12L PCK1_ENST00000543666.1_5'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 12 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGAACCTCTCGGCCAAAGTT 0.547000 19 143 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30937078 30937078 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:30937078C>G ENST00000597505.1 - 25 3632 c.3633G>C c.(3631-3633)tgG>tgC p.W1211C DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.W290C P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCTGGTGTATCCAGCGCTGAT 0.463000 4 40 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47633694 47633694 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:47633694G>A ENST00000397728.3 - 10 1145 c.1067C>T c.(1066-1068)aCt>aTt p.T356I LSS_ENST00000457828.2_Missense_Mutation_p.T276I|LSS_ENST00000522411.1_Missense_Mutation_p.T345I|LSS_ENST00000356396.4_Missense_Mutation_p.T356I NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 356 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CTGGAAGGCAGTGGAGGCGGG 0.597000 3 14 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95521983 95521983 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:95521983C>A ENST00000297591.5 - 15 3887 c.3812G>T c.(3811-3813)gGa>gTa p.G1271V KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1271V NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1271 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AACACTGTCTCCAGGAGACCG 0.358000 7 96 0.00307968 0.00314776 1 1 0 ERMN 57471 broad.mit.edu 37 2 158182010 158182010 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:158182010G>A ENST00000410096.1 - 1 436 c.145C>T c.(145-147)Ctg>Ttg p.L49L ERMN_ENST00000409925.1_Silent_p.L49L|ERMN_ENST00000409216.1_Silent_p.L49L|ERMN_ENST00000397283.2_Silent_p.L62L|ERMN_ENST00000420719.2_Silent_p.L49L NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 49 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 GCACCTTCCAGACTGGGTTCT 0.453000 13 78 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70550998 70550998 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:70550998G>A ENST00000260128.4 + 21 3173 c.2456G>A c.(2455-2457)cGa>cAa p.R819Q SULF1_ENST00000402687.4_Missense_Mutation_p.R819Q|SULF1_ENST00000419716.3_Missense_Mutation_p.R819Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R819Q NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 819 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACGGTAGAACGAGGCATTTTG 0.398000 18 101 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99097547 99097547 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:99097547G>A ENST00000337673.6 - 1 373 c.170C>T c.(169-171)tCg>tTg p.S57L ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.S57L|ZNF394_ENST00000394177.3_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 57 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGGGTCCGGCGAAGCCGCGGG 0.632000 19 52 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64211462 64211462 + Splice_Site SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:64211462C>G ENST00000262150.2 - 7 1253 c.e7-1 CDH19_ENST00000540086.1_Splice_Site NM_021153.3 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.?(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AATCCACTTTCTGCAAAGAAA 0.378000 5 34 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586977 50586977 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:50586977C>G ENST00000378182.3 + 2 1639 c.901C>G c.(901-903)Caa>Gaa p.Q301E TRIM13_ENST00000420995.2_Missense_Mutation_p.Q301E|TRIM13_ENST00000356017.4_Missense_Mutation_p.Q304E|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q301E|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q304E NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 301 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTCTTTGCCTCAAGACACTGG 0.408000 26 186 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96999337 96999337 + Nonsense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:96999337C>G ENST00000369278.4 + 16 1913 c.1847C>G c.(1846-1848)tCa>tGa p.S616* NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 616 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AGTAAATTATCAGAAGAAACC 0.299000 8 76 0 0 1 0 0 THOC1 9984 broad.mit.edu 37 18 265325 265325 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:265325C>T ENST00000261600.6 - 3 174 c.167G>A c.(166-168)aGa>aAa p.R56K THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 56 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TAGAATACCTCTGAAAGCTTG 0.269000 5 13 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41284199 41284199 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:41284199G>A ENST00000347132.5 + 4 637 c.555G>A c.(553-555)tcG>tcA p.S185S KCNQ4_ENST00000509682.2_Silent_p.S185S NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 185 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCGTGGCCTCGGTGGCCGTCA 0.692000 5 30 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39264816 39264816 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:39264816C>T ENST00000280481.7 + 1 3551 c.3335C>T c.(3334-3336)tCa>tTa p.S1112L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1112 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGCCTACTTCAGGTTATGTT 0.423000 8 62 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130416005 130416005 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:130416005G>A ENST00000373302.3 + 3 238 c.99G>A c.(97-99)gtG>gtA p.V33V STXBP1_ENST00000373299.1_Silent_p.V33V NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 33 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TGCTGGTGGTGGATCAGTTAA 0.532000 14 38 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648549 41648549 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:41648549C>A ENST00000313860.7 + 12 1358 c.1304C>A c.(1303-1305)tCc>tAc p.S435Y LIMCH1_ENST00000513024.1_Missense_Mutation_p.S264Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S269Y|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S281Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S435Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S435Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S423Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S820Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S276Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S435Y|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S276Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S269Y NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 435 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AACGCTCGGTCCCAGGAGGAG 0.463000 29 121 1.13719e-10 1.25892e-10 1 1 0 SGSM3 27352 broad.mit.edu 37 22 40798149 40798149 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:40798149G>C ENST00000248929.9 + 4 286 c.97G>C c.(97-99)Gag>Cag p.E33Q SGSM3_ENST00000454798.2_5'UTR NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 33 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CTAGAAGGAAGAGTCAGCAGA 0.488000 11 49 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54581186 54581186 + Nonsense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:54581186C>A ENST00000251636.5 - 10 1439 c.1291G>T c.(1291-1293)Gaa>Taa p.E431* RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 431 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ATGCCATCTTCTGTTAAGATT 0.398000 6 56 0.00198382 0.00203296 1 1 0 TESC 54997 broad.mit.edu 37 12 117513134 117513134 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:117513134G>A ENST00000335209.7 - 2 256 c.70C>T c.(70-72)Cag>Tag p.Q24* TESC_ENST00000392545.4_Nonsense_Mutation_p.Q77*|TESC_ENST00000541210.1_Nonsense_Mutation_p.Q24* Q96BS2 TESC_HUMAN tescalcin 24 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) TGCTCGATCTGATCCGATGAG 0.507000 15 66 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 86 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57918145 57918145 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:57918145C>T ENST00000355673.3 + 3 415 c.59C>T c.(58-60)tCt>tTt p.S20F MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Missense_Mutation_p.S20F NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 20 MBD. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GTGGCCACATCTGTCCCCATC 0.592000 3 48 0 0 1 0 0 SHPK 23729 broad.mit.edu 37 17 3539490 3539490 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:3539490G>T ENST00000225519.3 - 1 126 c.24C>A c.(22-24)ctC>ctA p.L8L NM_013276.2 NP_037408 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 8 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) GGTCAATGCCGAGGGTGATCG 0.701000 6 30 0.00116845 0.00120367 1 1 0 LTB4R2 56413 broad.mit.edu 37 14 24780846 24780846 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:24780846G>C ENST00000528054.1 + 1 2686 c.1069G>C c.(1069-1071)Gag>Cag p.E357Q LTB4R2_ENST00000543919.1_Missense_Mutation_p.E326Q|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.E326Q Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 357 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) AGGGACCATGGAGCTCCGAAC 0.677000 18 55 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1482086 1482086 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:1482086G>A ENST00000297508.7 - 7 1628 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* MICALL2_ENST00000405088.4_Nonsense_Mutation_p.Q273* NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 485 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GTTTTGGGCTGAGAACTGGGA 0.617000 24 175 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220079684 220079684 + Splice_Site SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:220079684G>A ENST00000265316.3 - 6 1591 c.1275C>T c.(1273-1275)ctC>ctT p.L425L ABCB6_ENST00000439002.2_Splice_Site_p.L379L NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 425 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCACTCACTGAGGTAAAGAC 0.552000 22 33 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87035681 87035681 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:87035681G>A ENST00000265723.4 - 26 3541 c.3430C>T c.(3430-3432)Cgg>Tgg p.R1144W ABCB4_ENST00000359206.3_Missense_Mutation_p.R1137W|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1137W|ABCB4_ENST00000453593.1_Missense_Mutation_p.R1090W|ABCB4_ENST00000358400.3_Missense_Mutation_p.R1090W NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1144 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GATACAACCCGGCTGTTGTCT 0.473000 9 205 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202899764 202899764 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:202899764G>A ENST00000286201.1 + 1 455 c.394G>A c.(394-396)Gag>Aag p.E132K NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 132 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CCAGGGCTGCGAGGCGCTCAT 0.657000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 44 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146752738 146752738 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:146752738G>A ENST00000397936.3 + 10 1117 c.784G>A c.(784-786)Gaa>Aaa p.E262K STK32A_ENST00000398523.3_Missense_Mutation_p.E262K NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 262 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTACTCGAACCTAATCC 0.373000 29 129 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6190837 6190837 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:6190837G>A ENST00000530810.1 - 1 801 c.720C>T c.(718-720)ctC>ctT p.L240L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACAAGTGCTGAGGGCCTTGT 0.478000 15 23 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185012381 185012381 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:185012381G>C ENST00000296741.2 - 8 1413 c.1272C>G c.(1270-1272)gtC>gtG p.V424V NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 424 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGCTGGGCCAGACAGGCGGGG 0.567000 8 79 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35382429 35382429 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:35382429C>T ENST00000378495.3 + 20 2706 c.2484C>T c.(2482-2484)atC>atT p.I828I UNC13B_ENST00000396787.1_Silent_p.I840I|UNC13B_ENST00000378496.4_Silent_p.I828I NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 828 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TGGCCAACATCAACGCCTACT 0.483000 81 85 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22625729 22625729 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:22625729C>T ENST00000333957.4 - 17 2311 c.2056G>A c.(2056-2058)Gat>Aat p.D686N C2CD5_ENST00000536386.1_Missense_Mutation_p.D688N|C2CD5_ENST00000446597.1_Missense_Mutation_p.D686N|C2CD5_ENST00000545552.1_Missense_Mutation_p.D699N|C2CD5_ENST00000544930.1_Missense_Mutation_p.D501N|C2CD5_ENST00000396028.2_Missense_Mutation_p.D677N|C2CD5_ENST00000542676.1_Missense_Mutation_p.D686N NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TCCATGGCATCTGTGTCATCA 0.289000 16 152 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134002676 134002676 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:134002676C>T ENST00000398844.2 + 3 1017 c.729C>T c.(727-729)gtC>gtT p.V243V SEC24A_ENST00000322887.4_Silent_p.V243V NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 243 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTCAGCTGTCAACCAAGAAG 0.463000 8 34 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143549 61143549 + RNA SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:61143549C>G ENST00000475015.1 - 0 789 C20orf166-AS1_ENST00000412495.1_RNA GTGCCACATTCTGAGCACAGA 0.642000 23 31 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574829 103574829 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:103574829C>G ENST00000380069.3 + 10 2027 c.1951C>G c.(1951-1953)Ctt>Gtt p.L651V NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 651 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCTGGAGACTCTTATCCGGAG 0.597000 23 144 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27212749 27212749 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:27212749C>A ENST00000380036.4 + 17 3173 c.2731C>A c.(2731-2733)Ctg>Atg p.L911M TEK_ENST00000406359.4_Missense_Mutation_p.L868M|TEK_ENST00000519097.1_Missense_Mutation_p.L763M NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 911 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGGAAACCTTCTGGACTTCCT 0.557000 4 38 0.00909568 0.00922478 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769309 31769309 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:31769309G>T ENST00000240587.4 - 2 1717 c.1390C>A c.(1390-1392)Cca>Aca p.P464T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 464 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTCAGTTTTGGGGAGATGCTG 0.542000 12 212 4.36969e-10 4.81033e-10 1 1 0 PPIL4 85313 broad.mit.edu 37 6 149846284 149846284 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:149846284C>G ENST00000253329.2 - 9 897 c.865G>C c.(865-867)Gaa>Caa p.E289Q NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 289 RRM. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) CATACCTTTTCAAATTCAATA 0.279000 15 49 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422316 53422316 + Missense_Mutation SNP C C T rs113194848 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:53422316C>T ENST00000377942.3 - 1 459 c.256G>A c.(256-258)Ggg>Agg p.G86R PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 86 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCGGCGTCCCCGACGGTCAGC 0.647000 4 70 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293299 62293299 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:62293299G>C ENST00000378024.4 - 5 8864 c.8590C>G c.(8590-8592)Ctg>Gtg p.L2864V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2864 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGACCTTTCAGATCTCCCTCT 0.458000 48 214 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123514842 123514842 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:123514842G>A ENST00000422452.2 - 32 7806 c.7743C>T c.(7741-7743)taC>taT p.Y2581Y STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.Y2574Y NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCTTAATGAAGTAGTGAGTGT 0.502000 17 58 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75059366 75059366 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:75059366C>G ENST00000401621.2 - 14 1644 c.1524G>C c.(1522-1524)caG>caC p.Q508H TTC18_ENST00000394865.1_Missense_Mutation_p.Q508H|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.Q508H|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 508 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CACTTGCCTTCTGAGCTCCTC 0.388000 8 25 0 0 1 0 0 C12orf39 80763 broad.mit.edu 37 12 21680068 21680068 + Splice_Site SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:21680068G>C ENST00000256969.2 + 3 253 c.e3-1 NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 CCGGGCTATAGAGACTGTTGG 0.418000 22 104 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940396 144940396 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:144940396C>A ENST00000525985.1 - 2 7097 c.7026G>T c.(7024-7026)caG>caT p.Q2342H P58107 EPIPL_HUMAN epiplakin 1 2342 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGTGGCGATCTGGGCCTCCA 0.687000 11 519 3.86212e-05 4.08014e-05 1 1 0 GPR158 57512 broad.mit.edu 37 10 25886921 25886921 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:25886921G>A ENST00000376351.3 + 11 2725 c.2366G>A c.(2365-2367)aGg>aAg p.R789K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 789 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCCCTCATCAGGAAGAACCCC 0.547000 13 95 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270351 18270351 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:18270351C>T ENST00000377369.2 + 6 1308 c.1035C>T c.(1033-1035)ctC>ctT p.L345L SLC39A12_ENST00000539911.1_Silent_p.L211L|SLC39A12_ENST00000377374.4_Silent_p.L345L|SLC39A12_ENST00000377371.3_Silent_p.L345L NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 345 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AGCAGCTCCTCAGCTGCTCCT 0.502000 16 69 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64518410 64518410 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:64518410G>A ENST00000358025.3 + 48 8009 c.7779G>A c.(7777-7779)aaG>aaA p.K2593K SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.K2593K|SYNE2_ENST00000554584.1_Silent_p.K2626K NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2593 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACATGGATAAGAAATTGTTGG 0.353000 9 36 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66520184 66520184 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:66520184C>G ENST00000589228.1 + 5 596 c.468C>G c.(466-468)gtC>gtG p.V156V PRKAR1A_ENST00000588188.2_Silent_p.V156V|PRKAR1A_ENST00000358598.2_Silent_p.V156V|PRKAR1A_ENST00000536854.2_Silent_p.V156V|PRKAR1A_ENST00000392711.1_Silent_p.V156V|PRKAR1A_ENST00000586397.1_Silent_p.V156V NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 156 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) TGTTTTCGGTCTCCTTTATCG 0.428000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 17 106 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48134148 48134148 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:48134148G>A ENST00000405493.2 - 22 2345 c.2136C>T c.(2134-2136)ttC>ttT p.F712F RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Silent_p.F712F|RAPGEF3_ENST00000549151.1_Silent_p.F712F|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Silent_p.F754F|RAPGEF3_ENST00000389212.3_Silent_p.F754F NM_001098532.2|NM_006105.5 NP_001092002|NP_006096 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 712 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TGACGGCAAAGAAGGAATTGA 0.592000 13 50 0 0 1 0 0 UNC119B 84747 broad.mit.edu 37 12 121154517 121154517 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:121154517C>G ENST00000344651.4 + 3 485 c.445C>G c.(445-447)Ctc>Gtc p.L149V NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) 149 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCGGCATTTCTCCGCCTCCG 0.542000 24 145 0 0 1 0 0 MSRB2 22921 broad.mit.edu 37 10 23408306 23408306 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:23408306G>T ENST00000376510.3 + 4 473 c.370G>T c.(370-372)Gaa>Taa p.E124* MSRB2_ENST00000468633.1_3'UTR NM_012228.3 NP_036360.3 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 124 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 9 L-Methionine(DB00134) TGGCTCTGATGAAAGCCACAC 0.488000 15 93 6.72482e-11 7.46569e-11 1 1 0 ZBTB4 57659 broad.mit.edu 37 17 7365433 7365433 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:7365433C>A ENST00000311403.4 - 4 3207 c.2868G>T c.(2866-2868)aaG>aaT p.K956N ZBTB4_ENST00000380599.4_Missense_Mutation_p.K956N NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 956 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) CCCCCGCACCCTTCTCATCAG 0.607000 30 231 3.67414e-24 4.1914e-24 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 142 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40117221 40117221 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:40117221G>C ENST00000373233.3 - 13 1881 c.1704C>G c.(1702-1704)ttC>ttG p.F568L CHD6_ENST00000309279.7_Missense_Mutation_p.F568L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 568 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CGTGGAACTTGAAGACTCCTG 0.448000 24 76 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5786498 5786498 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:5786498G>T ENST00000309061.7 - 10 1638 c.1542C>A c.(1540-1542)gtC>gtA p.V514V DUS3L_ENST00000320699.8_Silent_p.V272V NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 514 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TGATCCCGGTGACACCAGTCT 0.587000 29 58 7.01153e-11 7.77301e-11 1 1 0 GOLGA1 2800 broad.mit.edu 37 9 127644215 127644215 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:127644215C>G ENST00000373555.4 - 21 2317 c.1984G>C c.(1984-1986)Gag>Cag p.E662Q NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 662 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TCGAAGAGCTCATTATCGGGT 0.507000 7 45 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr21:11058168A>T ENST00000470054.1 - 0 479 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) TACATCTTTCAGGAGCTTGGT 0.388000 4 133 0 0 1 0 0 RHOD 29984 broad.mit.edu 37 11 66837940 66837940 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:66837940C>T ENST00000308831.2 + 4 460 c.375C>T c.(373-375)atC>atT p.I125I RHOD_ENST00000532559.1_Silent_p.I59I|RHOD_ENST00000533360.1_3'UTR NM_014578.3 NP_055393 O00212 RHOD_HUMAN ras homolog family member D 125 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 TACCCATCATCGTCGTGGGCT 0.562000 17 96 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32210963 32210963 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:32210963C>T ENST00000492345.1 + 7 1178 c.493C>T c.(493-495)Cgg>Tgg p.R165W CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R194W|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.R165W|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.R165W|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R185W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R165W|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R204W|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.R194W O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 194 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 GCACTGCGCTCGGGCGGCCAA 0.582000 7 68 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910599 35910599 + Missense_Mutation SNP T T C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:35910599T>C ENST00000397367.2 - 3 310 c.184A>G c.(184-186)Aaa>Gaa p.K62E CAPSL_ENST00000514524.1_Missense_Mutation_p.K62E|CAPSL_ENST00000397366.1_Missense_Mutation_p.K62E NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 62 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATAAATTCTTTAAAATCAAGG 0.323000 14 89 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744091 98744091 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:98744091G>T ENST00000286067.2 + 1 3051 c.2944G>T c.(2944-2946)Gat>Tat p.D982Y NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 982 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGTCAAGGAAGATAGAAACAG 0.493000 7 83 0.000157383 0.000164499 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40677743 40677743 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:40677743G>A ENST00000298910.7 + 19 2366 c.2308G>A c.(2308-2310)Gat>Aat p.D770N LRRK2_ENST00000343742.2_Missense_Mutation_p.D770N NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 770 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCGTGAACAAGATGTACGAAA 0.403000 14 91 0 0 1 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812056 30812056 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:30812056C>T ENST00000312932.9 + 10 1151 c.891C>T c.(889-891)ctC>ctT p.L297L SEC14L2_ENST00000403484.1_Silent_p.L223L|SEC14L2_ENST00000402592.3_Silent_p.L214L|SEC14L2_ENST00000405717.3_Silent_p.L297L|RP4-539M6.19_ENST00000439838.1_Silent_p.L131L NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 297 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) ATGAGATCCTCTTCCCTGGCT 0.557000 15 75 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32717355 32717355 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:32717355G>C ENST00000357033.4 - 8 911 c.705C>G c.(703-705)ctC>ctG p.L235L DMD_ENST00000288447.4_Silent_p.L227L|DMD_ENST00000378677.2_Silent_p.L231L NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 235 Actin-binding.|CH 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAACTTGGAAGAGTGATGTGA 0.378000 12 35 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033362 82033362 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:82033362C>G ENST00000328945.5 - 3 663 c.536G>C c.(535-537)aGa>aCa p.R179T SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 179 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 AGCGCAGGTTCTTAAGACACC 0.542000 25 161 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113686082 113686082 + Nonsense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:113686082G>A ENST00000003302.4 - 14 1554 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* USP28_ENST00000537706.1_Nonsense_Mutation_p.Q496*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q371*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q204*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q496* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 496 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCAACATCCTGAGAAGAGCTT 0.393000 16 31 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241705144 241705144 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:241705144G>A ENST00000498729.2 - 20 1997 c.1751C>T c.(1750-1752)cCc>cTc p.P584L KIF1A_ENST00000320389.7_Missense_Mutation_p.P575L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 575 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CAGGATGCTGGGCTCTGTGAC 0.622000 5 15 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692999 26692999 + Missense_Mutation SNP G G A rs148526431 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr22:26692999G>A ENST00000529632.2 + 4 1311 c.1115G>A c.(1114-1116)cGg>cAg p.R372Q SEZ6L_ENST00000404234.3_Missense_Mutation_p.R372Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R372Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R145Q|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R372Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R145Q|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R372Q NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 372 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GTCTACTTCCGGACCTTCCAG 0.607000 4 28 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13896086 13896086 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:13896086C>T ENST00000285018.4 - 3 817 c.513G>A c.(511-513)gaG>gaA p.E171E NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 171 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity p.E171D(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TCTGCTTGATCTCCCGGGCAT 0.632000 24 153 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89084343 89084343 + RNA SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr2:89084343C>G ENST00000393525.3 + 0 711 ATGTCATGTTCAGCCAAGATA 0.398000 11 5 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197396999 197396999 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:197396999C>T ENST00000367397.1 + 3 1545 c.687C>T c.(685-687)ttC>ttT p.F229F CRB1_ENST00000544212.1_Silent_p.F329F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Silent_p.F848F|CRB1_ENST00000535699.1_Silent_p.F779F|CRB1_ENST00000367399.2_Silent_p.F736F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 848 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTGGATTCTTCAAAGGCTGTA 0.383000 9 79 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110551168 110551168 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:110551168C>T ENST00000368932.1 + 16 1675 c.1574C>T c.(1573-1575)tCa>tTa p.S525L CDC40_ENST00000307731.1_Missense_Mutation_p.S525L|CDC40_ENST00000445340.2_Intron|CDC40_ENST00000368930.1_Intron O60508 PRP17_HUMAN cell division cycle 40 525 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TATGTGATTTCAGGAGATGGA 0.343000 9 48 0 0 1 0 0 VASP 7408 broad.mit.edu 37 19 46021215 46021215 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:46021215G>A ENST00000245932.6 + 3 562 c.206G>A c.(205-207)gGt>gAt p.G69D VASP_ENST00000586619.1_3'UTR NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 69 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) ATCGTCCGGGGTGTCAAGTAT 0.662000 8 28 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62795014 62795014 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:62795014G>C ENST00000280377.5 + 21 2780 c.2722G>C c.(2722-2724)Gat>Cat p.D908H USP15_ENST00000393654.3_Missense_Mutation_p.D883H|USP15_ENST00000353364.3_Missense_Mutation_p.D879H NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 908 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GTACTATTTTGATGACAGTAG 0.338000 10 33 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96508441 96508441 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:96508441C>A ENST00000376747.3 - 34 4049 c.3979G>T c.(3979-3981)Gac>Tac p.D1327Y NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1327 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 ATGATTTTGTCCACTGCTAGT 0.348000 19 70 2.94398e-08 3.20939e-08 1 1 0 MMP14 4323 broad.mit.edu 37 14 23313059 23313059 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:23313059G>T ENST00000311852.6 + 6 1252 c.991G>T c.(991-993)Ggg>Tgg p.G331W MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 331 Hemopexin-like 1. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CATGCTCCGAGGGGAGATGTT 0.542000 9 84 1.33987e-11 1.49381e-11 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 14 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130312094 130312094 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr3:130312094C>T ENST00000358511.6 + 16 4499 c.4468C>T c.(4468-4470)Cag>Tag p.Q1490* COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Q1490* NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1490 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGAGGGATCTCAGGTAGGGAT 0.363000 5 30 0 0 1 0 0 HENMT1 113802 broad.mit.edu 37 1 109193814 109193814 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:109193814G>A ENST00000370032.5 - 6 836 c.416C>T c.(415-417)tCa>tTa p.S139L HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.S139L|HENMT1_ENST00000370031.1_Missense_Mutation_p.S139L NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 139 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 CAGATCACCTGAATCCAAATG 0.358000 7 37 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625463 31625463 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr20:31625463G>A ENST00000349552.1 + 8 765 c.765G>A c.(763-765)caG>caA p.Q255Q NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 255 extracellular region lipid binding GCTCGTCGCAGCTGCTGCTCC 0.562000 12 106 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89625430 89625430 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:89625430G>C ENST00000402738.1 + 24 3078 c.2839G>C c.(2839-2841)Gag>Cag p.E947Q HERC3_ENST00000264345.3_Missense_Mutation_p.E947Q|HERC3_ENST00000543130.1_Missense_Mutation_p.E391Q NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 947 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) AGAACTGGAAGAGGTAAGCAC 0.517000 10 73 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43363963 43363963 + RNA SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:43363963C>T ENST00000344686.2 - 0 1092 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGAAAACTTCTCATGGGCAC 0.612000 4 26 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808877 77808877 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:77808877C>A ENST00000269397.4 - 5 741 c.564G>T c.(562-564)ctG>ctT p.L188L CBX4_ENST00000448310.1_3'UTR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 188 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCTTGGCCCCCAGGTCCGGGC 0.706000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 55 4.36969e-10 4.81033e-10 1 1 0 ZNF547 284306 broad.mit.edu 37 19 57889199 57889199 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:57889199G>T ENST00000282282.3 + 4 1005 c.855G>T c.(853-855)agG>agT p.R285S AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCTCTTTAGGCATTACAGAA 0.413000 20 109 2.27731e-05 2.41887e-05 1 1 0 TMEM97 27346 broad.mit.edu 37 17 26652669 26652669 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:26652669C>T ENST00000226230.6 + 2 412 c.267C>T c.(265-267)ctC>ctT p.L89L TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Silent_p.L89L|TMEM97_ENST00000336687.6_5'UTR NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 89 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) ATGCCTTCCTCAAAGGTTGGT 0.473000 20 142 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170608844 170608844 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr4:170608844G>C ENST00000513761.1 + 4 913 c.354G>C c.(352-354)atG>atC p.M118I CLCN3_ENST00000504131.2_Missense_Mutation_p.M101I|CLCN3_ENST00000360642.3_Missense_Mutation_p.M118I|CLCN3_ENST00000347613.4_Missense_Mutation_p.M118I NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 118 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CATGGGAAATGACAAAAAGTT 0.338000 6 50 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132488 48132488 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:48132488G>A ENST00000405493.2 - 25 2594 c.2385C>T c.(2383-2385)atC>atT p.I795I RAPGEF3_ENST00000548919.1_Silent_p.I728I|RAPGEF3_ENST00000171000.4_Silent_p.I795I|RAPGEF3_ENST00000549151.1_Silent_p.I795I|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Silent_p.I837I|RAPGEF3_ENST00000389212.3_Silent_p.I837I NM_001098532.2|NM_006105.5 NP_001092002|NP_006096 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 795 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCTCAAAGTTGATGAGATTCT 0.502000 16 111 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078694 22078694 + Missense_Mutation SNP A A G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr5:22078694A>G ENST00000382254.1 - 5 1178 c.92T>C c.(91-93)tTa>tCa p.L31S CDH12_ENST00000522262.1_Missense_Mutation_p.L31S|CDH12_ENST00000504376.2_Missense_Mutation_p.L31S NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CTCTGTGGCTAAAGTCTGCTG 0.463000 HNSCC(59;0.17) 81 132 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14737434 14737434 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr9:14737434C>G ENST00000380881.4 - 38 7318 c.6503G>C c.(6502-6504)aGa>aCa p.R2168T FREM1_ENST00000422223.2_Missense_Mutation_p.R2167T|FREM1_ENST00000380894.1_Missense_Mutation_p.R703T|FREM1_ENST00000380880.3_Missense_Mutation_p.R2167T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2167 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGGTTTGGCTCTCCTACAGTC 0.448000 23 20 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61765757 61765757 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:61765757C>T ENST00000423902.2 + 31 6952 c.6473C>T c.(6472-6474)tCa>tTa p.S2158L CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2158 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCAGTCATCTCATCTGCTCAT 0.473000 14 24 0 0 1 0 0 PLEKHJ1 55111 broad.mit.edu 37 19 2234155 2234155 + Missense_Mutation SNP C C T rs143901250 by1000genomes TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr19:2234155C>T ENST00000589097.1 - 5 1427 c.314G>A c.(313-315)cGg>cAg p.R105Q PLEKHJ1_ENST00000591099.2_Intron|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000587962.2_Missense_Mutation_p.R105Q|PLEKHJ1_ENST00000586608.2_Intron|PLEKHJ1_ENST00000587394.2_Missense_Mutation_p.R105Q|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.R105Q Q9NW61 PKHJ1_HUMAN pleckstrin homology domain containing, family J member 1 105 PH. protein binding endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCTGGCCCGACGCAGAGC 0.632000 9 63 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46871573 46871573 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:46871573C>T ENST00000433608.2 - 1 123 c.70G>A c.(70-72)Gaa>Aaa p.E24K TTLL6_ENST00000393382.3_Intron NM_173623.3 NP_775894.2 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 0 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CACCTTAGTTCTGCTACCCCG 0.537000 5 45 0 0 1 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864368 102864368 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:102864368C>T ENST00000372628.1 + 3 734 c.376C>T c.(376-378)Cag>Tag p.Q126* TCEAL3_ENST00000243286.3_Nonsense_Mutation_p.Q126*|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Nonsense_Mutation_p.Q126* Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q126K(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 CAAGGACTCTCAGGAGGACTT 0.532000 21 93 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110830423 110830423 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:110830423G>A ENST00000375820.4 - 32 2735 c.2614C>T c.(2614-2616)Cct>Tct p.P872S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 872 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGAAACCCAGGAATCCCAGGA 0.537000 10 90 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380410 147380410 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:147380410G>A ENST00000240986.4 + 2 381 c.328G>A c.(328-330)Gag>Aag p.E110K GJA8_ENST00000369235.1_Missense_Mutation_p.E110K NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 110 EA -> D (in Ref. 1; AAA77062). cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CAAAAGCCGCGAGGCGGAGGA 0.652000 35 79 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22508855 22508855 + RNA SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:22508855C>G ENST00000390448.3 + 0 16 AGTGGCGCCTCTGAGAAAAGA 0.408000 7 38 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102437 22102437 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr14:22102437C>G ENST00000542433.1 - 1 659 c.562G>C c.(562-564)Gca>Cca p.A188P NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CTCAATACTGCGCGGATGTCA 0.547000 38 108 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 3 25 0.004672 0.00475673 1 1 0 LYZL2 119180 broad.mit.edu 37 10 30901759 30901759 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr10:30901759C>T ENST00000375318.2 - 4 563 c.507G>A c.(505-507)atG>atA p.M169I NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 123 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) ACCAATAGTTCATTCCTTGTG 0.423000 23 69 0 0 1 0 0 GFOD2 81577 broad.mit.edu 37 16 67709544 67709544 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr16:67709544G>A ENST00000268797.7 - 3 1017 c.672C>T c.(670-672)ttC>ttT p.F224F GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 224 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GCATCTGGAAGAAACAGAAGT 0.572000 7 61 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1409271 1409271 + Nonsense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chrX:1409271C>G ENST00000381524.3 + 7 701 c.515C>G c.(514-516)tCa>tGa p.S172* CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.S39*|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000355805.2_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.S172*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.S172* P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 172 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) ATACAAGACTCAGGAACCCAT 0.433000 72 168 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7723844 7723844 + RNA SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr11:7723844C>T ENST00000454689.1 - 0 322 OVCH2_ENST00000534193.2_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GTCATACTCTCCAGCAGTAAC 0.393000 5 7 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087458 27087458 + Nonsense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:27087458C>T ENST00000324856.7 + 5 2403 c.2032C>T c.(2032-2034)Cag>Tag p.Q678* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q295*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q678* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 678 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.N675fs*64(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TAATCCAGCTCAGTCTCCTTT 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 12 64 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122824 41122824 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr8:41122824G>A ENST00000220772.3 - 3 1144 c.807C>T c.(805-807)ctC>ctT p.L269L SFRP1_ENST00000379845.3_Silent_p.L133L NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 269 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GGCCCATGATGAGGAAGTGGT 0.502000 13 90 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247202111 247202111 + Splice_Site SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:247202111C>G ENST00000366503.2 - 3 350 c.e3+1 NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ATGCAAATTACCTTAGATTTC 0.323000 19 51 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51834543 51834543 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr15:51834543G>A ENST00000251076.5 - 9 1379 c.1092C>T c.(1090-1092)atC>atT p.I364I DMXL2_ENST00000543779.2_Silent_p.I364I|DMXL2_ENST00000449909.3_Silent_p.I364I NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 364 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGGCAGGGTTGATGCTTGCTG 0.368000 11 79 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13731886 13731886 + Missense_Mutation SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr18:13731886C>A ENST00000383314.2 + 3 610 c.370C>A c.(370-372)Caa>Aaa p.Q124K RNMT_ENST00000589866.1_Missense_Mutation_p.Q124K|RNMT_ENST00000543302.2_Missense_Mutation_p.Q124K|RNMT_ENST00000262173.3_Missense_Mutation_p.Q124K|RNMT_ENST00000592764.1_Missense_Mutation_p.Q124K|RNMT_ENST00000535051.1_Intron O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 124 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 AGATGGCACTCAAAATAAGAG 0.323000 14 60 6.31663e-08 6.85755e-08 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112610476 112610476 + Splice_Site SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:112610476C>G ENST00000550722.1 - 67 11741 c.11346G>C c.(11344-11346)ctG>ctC p.L3782L HECTD4_ENST00000430131.2_Splice_Site_p.L3506L|HECTD4_ENST00000377560.5_Splice_Site_p.L3756L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCCACATACTCAGGAGACAGG 0.617000 13 34 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206811015 206811016 + Frame_Shift_Del DEL AC AC - TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr1:206811015_206811016delAC ENST00000367106.1 + 3 511_512 c.38_39delAC c.(37-39)gacfs p.D13fs DYRK3_ENST00000367109.2_Frame_Shift_Del_p.D33fs|DYRK3_ENST00000489878.1_3'UTR|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.D13fs O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 33 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GGTGTCTATGACACCTTCATGA 0.396 17 77 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33414463 33414463 + Frame_Shift_Del DEL A A - TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr6:33414463delA ENST00000418600.2 + 17 3795 c.3694delA c.(3694-3696)aaafs p.K1232fs SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Del_p.K1232fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Del_p.K1173fs NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 1232 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 ACAAACCAGCAAAATCCTGAT 0.542 19 19 --- --- --- --- ADCYAP1R1 117 broad.mit.edu 37 7 31104542 31104542 + Frame_Shift_Del DEL T T - TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:31104542delT ENST00000304166.4 + 3 436 c.147delT c.(145-147)gatfs p.D49fs ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.D49fs|ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.D49fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.D49fs 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 49 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 GCTTCAATGATTCCTCTCCAG 0.567 8 18 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 6 13 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 3 6 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)ttafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 8 90 --- --- --- --- DDX52 11056 broad.mit.edu 37 17 36002277 36002278 + Frame_Shift_Ins INS - - A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264520a6-75e4-4059-8151-8fd7eb8d3f34 1efdb2f8-6199-4a84-b815-44111b99465e g.chr17:36002277_36002278insA ENST00000349699.2 - 2 190_191 c.147_148insT c.(145-150)tttggafs p.G50fs DDX52_ENST00000394367.3_5'UTR NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 50 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) TTCTTGTTTCCAAAAAAGTCCA 0.401 29 73 --- --- --- ---