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 RPRD2 23248 broad.mit.edu 37 1 150429782 150429782 + Missense_Mutation SNP A A T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr1:150429782A>T ENST00000401000.4 + 7 876 c.811A>T c.(811-813)Aac>Tac p.N271Y RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N297Y|RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 297 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AACCTTTGCTAACCGAGTAAA 0.388 10 49 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155348170 155348170 + Silent SNP A A T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr1:155348170A>T ENST00000368346.3 - 10 6888 c.6249T>A c.(6247-6249)gtT>gtA p.V2083V ASH1L_ENST00000392403.3_Silent_p.V2078V Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2083 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTTTGACATCAACGTAGACAT 0.413 23 110 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222838751 222838751 + Silent SNP A A T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr1:222838751A>T ENST00000344922.5 + 28 5539 c.5514A>T c.(5512-5514)ggA>ggT p.G1838G MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1838 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TTTTACCTGGACACGCACCAT 0.547 17 301 --- --- --- --- NDUFB5 4711 broad.mit.edu 37 3 179341804 179341804 + Silent SNP T T A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr3:179341804T>A ENST00000493866.1 + 4 415 c.390T>A c.(388-390)tcT>tcA p.S130S NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000259037.3_Silent_p.S182S NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 182 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TTGATCATTCTCCGAAAGCAA 0.333 7 129 --- --- --- --- TNFRSF10B 8795 broad.mit.edu 37 8 22886093 22886093 + Missense_Mutation SNP C C T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr8:22886093C>T ENST00000276431.4 - 5 783 c.499G>A c.(499-501)Gtc>Atc p.V167I TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000519910.1_5'UTR NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 167 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) CAATCACCGACCTTGACCATC 0.567 5 88 --- --- --- --- ZFAT 57623 broad.mit.edu 37 8 135524840 135524840 + Missense_Mutation SNP G G A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr8:135524840G>A ENST00000520727.1 - 15 3502 c.3203C>T c.(3202-3204)gCa>gTa p.A1068V ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1080V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'UTR NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1080 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGCTTCTGTTGCTGTCTAAAT 0.473 6 99 --- --- --- --- PAX5 5079 broad.mit.edu 37 9 37015117 37015117 + Missense_Mutation SNP A A G TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr9:37015117A>G ENST00000358127.4 - 3 361 c.287T>C c.(286-288)gTg>gCg p.V96A PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A NM_001280554.1|NM_001280556.1|NM_016734.1 NP_001267483.1|NP_001267485.1|NP_057953.1 Q02548 PAX5_HUMAN paired box 5 96 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(42) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GATTTTTTCCACCACTTTGGG 0.502 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 30 202 --- --- --- --- HSPA14 51182 broad.mit.edu 37 10 14909224 14909224 + Missense_Mutation SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr10:14909224T>C ENST00000378372.3 + 11 1375 c.1136T>C c.(1135-1137)aTt>aCt p.I379T NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 379 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 GGAATTCTTATTGGGAAAGAA 0.383 10 106 --- --- --- --- NDST2 8509 broad.mit.edu 37 10 75567743 75567743 + Missense_Mutation SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr10:75567743T>C ENST00000603027.1 - 3 1027 c.404A>G c.(403-405)tAt>tGt p.Y135C NDST2_ENST00000309979.6_Missense_Mutation_p.Y135C|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C 135 GACCAAGACATAGCGGCCATG 0.522 11 62 --- --- --- --- PRMT3 10196 broad.mit.edu 37 11 20515515 20515515 + Splice_Site SNP G G T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr11:20515515G>T ENST00000331079.6 + 14 1615 c.1398G>T c.(1396-1398)agG>agT p.R466S PRMT3_ENST00000437750.2_Splice_Site_p.R404S NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 466 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 GCCACAACAGGGTAAGTATCA 0.279 16 111 --- --- --- --- GRIA4 2893 broad.mit.edu 37 11 105797470 105797470 + Silent SNP C C T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr11:105797470C>T ENST00000393127.2 + 13 2297 c.1851C>T c.(1849-1851)tcC>tcT p.S617S GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000530497.1_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 617 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) tgtttagaTCCCTCTCAGGTC 0.363 8 109 --- --- --- --- SLC6A15 55117 broad.mit.edu 37 12 85270287 85270287 + Missense_Mutation SNP A A G TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr12:85270287A>G ENST00000266682.5 - 6 1397 c.856T>C c.(856-858)Ttt>Ctt p.F286L SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 286 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 TTAGGGGTAAACATGTGGCGA 0.299 5 66 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31727071 31727071 + Silent SNP T T G TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr13:31727071T>G ENST00000320027.5 - 5 791 c.447A>C c.(445-447)acA>acC p.T149T HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 149 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCTCAGCATCTGTAAAGAAGG 0.358 53 182 --- --- --- --- RFXAP 5994 broad.mit.edu 37 13 37399674 37399674 + Splice_Site SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr13:37399674T>C ENST00000255476.2 + 2 842 c.e2+2 RFXAP_ENST00000472888.1_Splice_Site NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) AAAAGACTGGTAAATATCTGT 0.313 11 47 --- --- --- --- KDELC1 79070 broad.mit.edu 37 13 103445972 103445972 + Missense_Mutation SNP G G C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr13:103445972G>C ENST00000376004.4 - 3 909 c.573C>G c.(571-573)caC>caG p.H191Q KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 191 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTAAGGTGTAGTGACATAGGC 0.368 24 105 --- --- --- --- CUL4A 8451 broad.mit.edu 37 13 113899533 113899533 + Silent SNP C C T rs141571594 TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr13:113899533C>T ENST00000451881.1 + 14 1461 c.1212C>T c.(1210-1212)atC>atT p.I404I CUL4A_ENST00000375440.4_Silent_p.I504I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 504 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CGAAGGACATCATGGTTCATT 0.488 3 54 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94053216 94053216 + Missense_Mutation SNP A A T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr14:94053216A>T ENST00000553484.1 + 22 3148 c.2994A>T c.(2992-2994)caA>caT p.Q998H UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q998H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 998 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATCACCCTCAATTTTTAGCCT 0.353 33 141 --- --- --- --- ZNF839 55778 broad.mit.edu 37 14 102793195 102793195 + Missense_Mutation SNP G G A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr14:102793195G>A ENST00000262236.5 + 2 1169 c.814G>A c.(814-816)Gtg>Atg p.V272M ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000558850.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 272 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTCCTGCTTGGTGACAGAGTC 0.577 4 14 --- --- --- --- NPAP1 23742 broad.mit.edu 37 15 24923886 24923886 + Missense_Mutation SNP C C A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr15:24923886C>A ENST00000329468.2 + 1 3346 c.2872C>A c.(2872-2874)Cct>Act p.P958T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATTGGGCACACCTGTTAATGC 0.483 15 92 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53907788 53907788 + Missense_Mutation SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr15:53907788T>C ENST00000396328.1 - 15 2854 c.2615A>G c.(2614-2616)gAt>gGt p.D872G WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 872 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGTGTATTTATCTGACAAGTC 0.353 4 90 --- --- --- --- RASL12 51285 broad.mit.edu 37 15 65347485 65347485 + Missense_Mutation SNP G G A rs148588039 byFrequency TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr15:65347485G>A ENST00000220062.4 - 5 829 c.553C>T c.(553-555)Cgg>Tgg p.R185W RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 185 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TCCAGCTCCCGCCGTGCCTCT 0.662 3 16 --- --- --- --- TPSAB1 7177 broad.mit.edu 37 16 1291297 1291297 + Missense_Mutation SNP G G T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr16:1291297G>T ENST00000461509.2 + 2 420 c.226G>T c.(226-228)Gtg>Ttg p.V76L TPSAB1_ENST00000338844.3_Missense_Mutation_p.V69L P20231 TRYB2_HUMAN tryptase alpha/beta 1 69 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) CCCCCAGTGGGTGCTGACCGC 0.706 8 65 --- --- --- --- GLYR1 84656 broad.mit.edu 37 16 4873833 4873833 + Missense_Mutation SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr16:4873833T>C ENST00000321919.9 - 6 689 c.613A>G c.(613-615)Acc>Gcc p.T205A GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 205 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 TCGCTTGCGGTTGGCTGCCAT 0.532 32 125 --- --- --- --- AFG3L2 10939 broad.mit.edu 37 18 12370900 12370900 + Silent SNP T T C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr18:12370900T>C ENST00000269143.3 - 3 471 c.240A>G c.(238-240)ggA>ggG p.G80G NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 80 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TTCCATTTTTTCCATTAGGAA 0.279 4 24 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22807246 22807246 + Silent SNP C C T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr18:22807246C>T ENST00000361524.3 - 4 784 c.636G>A c.(634-636)ctG>ctA p.L212L ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 212 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AACTAGAGGACAGAAACCCAC 0.493 T PAX5 ALL 13 60 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40362965 40362965 + Silent SNP C C A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr19:40362965C>A ENST00000221347.6 - 32 15112 c.15105G>T c.(15103-15105)gtG>gtT p.V5035V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5035 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCCAAGCACACTGGGCAGC 0.706 5 40 --- --- --- --- PRKD2 25865 broad.mit.edu 37 19 47219514 47219514 + Silent SNP G G A TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr19:47219514G>A ENST00000433867.1 - 2 591 c.114C>T c.(112-114)atC>atT p.I38I PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000291281.4_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349|NP_001073350|NP_057541 Q9BZL6 KPCD2_HUMAN protein kinase D2 38 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCGGGGCCGGGATCTGGGGCA 0.716 7 61 --- --- --- --- ZNF83 55769 broad.mit.edu 37 19 53117664 53117664 + Silent SNP A A G TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr19:53117664A>G ENST00000597597.1 - 2 2407 c.154T>C c.(154-156)Tta>Cta p.L52L ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L P51522 ZNF83_HUMAN zinc finger protein 83 52 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) GGGGAAACTAAGGAACTACTG 0.353 13 87 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 132937913 132937914 + Frame_Shift_Ins INS - - C TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad06d026-2957-43c1-9350-74ddc23917e4 166a3681-aabe-4ffd-ae66-5ceee10893bf g.chr7:132937913_132937914insC ENST00000253861.4 + 1 85_86 c.56_57insC c.(55-60)gaccccfs p.DP19fs EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 19 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AAAAGCAAAGACCCCTCGGGGC 0.624 15 64 --- --- --- ---