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 ARHGEF10 9639 broad.mit.edu 37 8 1871979 1871979 + Silent SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr8:1871979G>A ENST00000518288.1 + 22 2662 c.2499G>A c.(2497-2499)acG>acA p.T833T ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000398564.1_Silent_p.T834T O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 834 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGTTCAATACGTTCACCCCTG 0.517000 15 62 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55512217 55512217 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:55512217G>A ENST00000302118.5 + 3 711 c.421G>A c.(421-423)Gac>Aac p.D141N PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 141 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GCCCCATGTCGACTACATCGA 0.602000 33 48 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44953734 44953734 + Missense_Mutation SNP T T A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:44953734T>A ENST00000393461.2 + 4 777 c.724T>A c.(724-726)Tat>Aat p.Y242N WNT9B_ENST00000290015.2_Missense_Mutation_p.Y242N O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 242 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GAAACTGCGCTATGACTCGGC 0.647000 37 46 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121724124 121724124 + Missense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:121724124C>T ENST00000273691.3 - 3 451 c.346G>A c.(346-348)Gat>Aat p.D116N ILDR1_ENST00000344209.5_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 116 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TGCCGGTAATCTACCCCCAGC 0.652000 13 26 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920290 58920290 + Missense_Mutation SNP T T G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:58920290T>G ENST00000528737.1 + 5 3967 c.1149T>G c.(1147-1149)tgT>tgG p.C383W FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 383 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) TTTTAACTTGTCGGCATGTAA 0.428000 14 86 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G G A rs113070757 byFrequency TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr9:2039779G>A ENST00000382203.1 + 4 878 c.669G>A c.(667-669)caG>caA p.Q223Q SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.642000 4 29 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176832137 176832137 + Missense_Mutation SNP T T C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:176832137T>C ENST00000253496.3 - 6 495 c.447A>G c.(445-447)atA>atG p.I149M NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 149 Fibronectin type-I. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) TTCTATACCATATCTCATTCT 0.552000 Hereditary Angioedema 18 35 0 0 1 0 0 LIPT1 51601 broad.mit.edu 37 2 99778887 99778887 + Missense_Mutation SNP T T C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:99778887T>C ENST00000393477.3 + 4 819 c.467T>C c.(466-468)cTt>cCt p.L156P MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393473.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 156 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) GACCTTTTACTTGATGGACAG 0.413000 10 58 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47552223 47552223 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr21:47552223C>T ENST00000300527.4 + 28 2921 c.2817C>T c.(2815-2817)caC>caT p.H939H NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 939 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCCGGAGGCACGCAGAGCTGT 0.657000 13 17 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61067363 61067363 + Missense_Mutation SNP A A C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr18:61067363A>C ENST00000238497.5 - 7 911 c.708T>G c.(706-708)atT>atG p.I236M VPS4B_ENST00000591383.1_5'UTR NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 236 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 AGAGAGAATCAATTTCATCAA 0.343000 26 26 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47452431 47452431 + Missense_Mutation SNP C C G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:47452431C>G ENST00000265562.4 + 20 3220 c.3143C>G c.(3142-3144)cCa>cGa p.P1048R PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1048 His.|Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCCATCCCCCACTGGCATAT 0.672000 24 28 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136323151 136323151 + Splice_Site SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:136323151C>T ENST00000383202.2 - 4 553 c.297_splice c.e4+1 p.Q99_splice STAG1_ENST00000236698.5_Splice_Site_p.Q99_splice|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Splice_Site_p.Q99_splice NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 99 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TAAAATTTACCTGCATTGCAC 0.403000 43 48 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190668 48190668 + Missense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr18:48190668C>T ENST00000400384.2 + 2 1376 c.340C>T c.(340-342)Cgc>Tgc p.R114C MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 114 Protein kinase. cell cycle ATP binding|MAP kinase activity p.R114C(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CGACCTGGCACGCCTGCTGGA 0.612000 44 55 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117491980 117491980 + Silent SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:117491980G>A ENST00000393203.2 + 4 1146 c.999G>A c.(997-999)cgG>cgA p.R333R NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 333 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TGTTGGCGCGGCTTGACCGTG 0.577000 42 54 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13865875 13865875 + Nonsense_Mutation SNP G G T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:13865875G>T ENST00000265104.4 - 27 4361 c.4257C>A c.(4255-4257)taC>taA p.Y1419* CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1419 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGACACTGTTGTACAGAGTAT 0.353000 Kartagener syndrome 21 19 8.10497e-08 8.62452e-08 1 1 0 ARPP21 10777 broad.mit.edu 37 3 35778809 35778809 + Silent SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:35778809G>A ENST00000187397.4 + 16 2055 c.1599G>A c.(1597-1599)caG>caA p.Q533Q ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 533 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCCAACAGCAGGTCCAGCCAC 0.647000 21 30 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292206 62292206 + Missense_Mutation SNP A A G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:62292206A>G ENST00000378024.4 - 5 9957 c.9683T>C c.(9682-9684)cTt>cCt p.L3228P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3228 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) AGGGCCTTTAAGATTGAGGTC 0.408000 99 68 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120213506 120213506 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr4:120213506G>A ENST00000450251.1 + 15 2906 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K USP53_ENST00000274030.6_Missense_Mutation_p.E788K Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 788 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 ACATGTACATGAAGACAATGG 0.328000 11 12 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 4 82 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48385799 48385799 + Missense_Mutation SNP C C A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr4:48385799C>A ENST00000264313.6 + 6 1776 c.1358C>A c.(1357-1359)gCc>gAc p.A453D SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 453 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CAGGCTTCAGCCAGTAAGTAT 0.353000 6 12 0.00116845 0.00118269 1 1 0 TP53 7157 broad.mit.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:7577498C>T ENST00000420246.2 - 7 915 c.e7+1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(29)|p.0?(8)|p.E258fs*71(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGCTCCTGACCTGGAGTCTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 55 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2934121 2934121 + Missense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr19:2934121C>T ENST00000314531.4 - 4 1096 c.1004G>A c.(1003-1005)tGt>tAt p.C335Y NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AGACGAGTAACAAGTGAACGC 0.488000 26 7 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135080618 135080618 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr7:135080618C>T ENST00000428680.2 - 9 1167 c.888G>A c.(886-888)acG>acA p.T296T CNOT4_ENST00000361528.4_Silent_p.T296T|CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000315544.5_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 299 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GTGGTGAAGGCGTATCACTGT 0.368000 12 33 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132180094 132180094 + Silent SNP A A C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:132180094A>C ENST00000374786.1 + 5 1229 c.750A>C c.(748-750)tcA>tcC p.S250S NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000539799.1_Silent_p.S250S NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 250 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CAGTCCCCTCAGCAGAATTCC 0.507000 76 78 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121260219 121260219 + Nonsense_Mutation SNP T T A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:121260219T>A ENST00000264233.5 - 3 579 c.451A>T c.(451-453)Aaa>Taa p.K151* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 151 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTCTTCTCTTTAGCCACAGAA 0.358000 DNA polymerases (catalytic subunits) 47 54 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527731 65527731 + Nonsense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr8:65527731C>T ENST00000310193.3 - 4 1082 c.909G>A c.(907-909)tgG>tgA p.W303* CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 303 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATACATTGCCCAGAACATAG 0.443000 4 41 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269308 150269308 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr7:150269308C>T ENST00000255945.2 + 3 325 c.150C>T c.(148-150)atC>atT p.I50I GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 50 GTP binding p.I50>?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAACAGCATCCTTGGCCGGA 0.478000 19 29 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20185863 20185863 + Silent SNP T T C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chrX:20185863T>C ENST00000379565.3 - 17 1653 c.1446A>G c.(1444-1446)gtA>gtG p.V482V RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000540702.1_Silent_p.V453V|RPS6KA3_ENST00000479809.1_5'UTR NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 482 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 CATCATCATATACCTATAAAT 0.274000 3 44 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46397946 46397946 + Splice_Site SNP C C T rs146211585 byFrequency TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:46397946C>T ENST00000454345.1 + 24 2849 c.2725_splice c.e24+1 p.D908_splice DGKZ_ENST00000318201.8_Splice_Site_p.D697_splice|DGKZ_ENST00000343674.6_Splice_Site_p.D736_splice|DGKZ_ENST00000532868.2_Splice_Site_p.D724_splice|DGKZ_ENST00000395574.3_Splice_Site_p.D686_splice|DGKZ_ENST00000456247.2_Splice_Site_p.D719_splice|DGKZ_ENST00000528615.1_Splice_Site_p.D498_splice|DGKZ_ENST00000543978.1_Splice_Site_p.D72_splice|DGKZ_ENST00000421244.2_Splice_Site_p.D720_splice|DGKZ_ENST00000527911.1_Splice_Site_p.D720_splice NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 908 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) GCTTCCTGGACGGTGAGTCTA 0.612000 38 103 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284178 19284178 + Missense_Mutation SNP C C A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:19284178C>A ENST00000308406.5 + 4 1042 c.656C>A c.(655-657)aCt>aAt p.T219N MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 219 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|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 cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TACTTCATGACTGAGTATGTG 0.527000 4 71 0.00024832 0.000257632 1 1 0 CDK20 23552 broad.mit.edu 37 9 90584735 90584735 + Silent SNP G G A rs113461285 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr9:90584735G>A ENST00000375883.3 - 5 906 c.600C>T c.(598-600)ggC>ggT p.G200G CDK20_ENST00000325303.8_Silent_p.G221G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Silent_p.G213G NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 221 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 GGTTTGGGGTGCCCAAGATGC 0.577000 43 50 0 0 1 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033580 26033580 + Missense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr6:26033580C>T ENST00000259791.2 - 1 216 c.217G>A c.(217-219)Gac>Aac p.D73N NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 73 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTCTTGTTGTCGCGGGCCGCA 0.647000 54 54 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70120195 70120195 + Silent SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:70120195G>A ENST00000245479.2 + 3 1569 c.1197G>A c.(1195-1197)acG>acA p.T399T NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 399 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ACATCAAGACGGAGCAGCTGA 0.682000 10 175 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118109480 118109480 + Missense_Mutation SNP T T G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chrX:118109480T>G ENST00000365713.2 + 1 900 c.737T>G c.(736-738)cTc>cGc p.L246R LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R|LONRF3_ENST00000371628.3_Missense_Mutation_p.L246R Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 246 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GCGTCGCAACTCCGGCACGAG 0.687000 10 0 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66466226 66466226 + RNA SNP A A G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr9:66466226A>G ENST00000424345.1 + 0 859 cctagcggagagagagccgga 0.453000 3 7 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339330 124339330 + Missense_Mutation SNP C C A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr10:124339330C>A ENST00000368909.3 + 10 1022 c.916C>A c.(916-918)Cat>Aat p.H306N DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 306 SRCR 2. 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) CTGCTCAGGACATGAGTCCTA 0.607000 6 127 0.00307968 0.00307968 1 1 0 SNX29P2 0 broad.mit.edu 37 16 29339943 29339943 + RNA SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr16:29339943G>A ENST00000398878.3 + 0 931 GCAGGACAGCGAGGTGAGTCA 0.607000 4 2 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40286039 40286039 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:40286039G>A ENST00000302541.6 + 13 2545 c.2203G>A c.(2203-2205)Gcg>Acg p.A735T MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 735 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GACCCATCTGGCGGATCTGGA 0.607000 23 24 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562648 32562648 + Missense_Mutation SNP C C A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr14:32562648C>A ENST00000345122.3 + 2 3088 c.2773C>A c.(2773-2775)Cat>Aat p.H925N ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 925 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCTCAGTATCATCGGCAAAC 0.323000 21 17 3.62473e-10 3.95859e-10 1 1 0 TP53 7157 broad.mit.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G G C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:7578382G>C ENST00000420246.2 - 5 680 c.548C>G c.(547-549)tCa>tGa p.S183* TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 183 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATCGCTATCTGAGCAGCGCTC 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 48 40 0 0 1 0 0 CLCNKA 0 broad.mit.edu 37 1 16357051 16357051 + Missense_Mutation SNP C C G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:16357051C>G ENST00000375692.1 + 16 1632 c.1504C>G c.(1504-1506)Ctg>Gtg p.L502V CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.L502V|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 502 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACTGCCCGTGCTGATGGCGGT 0.617000 14 78 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295475 101295475 + Missense_Mutation SNP G G T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr12:101295475G>T ENST00000538618.1 + 4 410 c.410G>T c.(409-411)cGg>cTg p.R137L ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATCCATCAACGGCGAAGTGTG 0.502000 HNSCC(74;0.22) 44 26 1.52319e-26 1.68566e-26 1 1 0 PTEN 5728 broad.mit.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121913292 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr10:89692904C>T ENST00000371953.3 + 5 1745 c.388C>T c.(388-390)Cga>Tga p.R130* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGGAAAGGGACGAACTGGTGT 0.403000 R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 39 10 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139726296 139726296 + Missense_Mutation SNP C C A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr9:139726296C>A ENST00000371675.3 + 6 1122 c.237C>A c.(235-237)ttC>ttA p.F79L RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000311502.7_Missense_Mutation_p.F194L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L RAB, member RAS oncogene family-like 6 TGCGTGACTTCATCGACAACC 0.672000 12 16 4.3838e-07 4.60577e-07 1 1 0 NOVA1 4857 broad.mit.edu 37 14 26949251 26949251 + Missense_Mutation SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr14:26949251C>T ENST00000539517.2 - 3 696 c.379G>A c.(379-381)Gtg>Atg p.V127M NOVA1_ENST00000344429.5_Missense_Mutation_p.V127M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 130 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GTCTTGGCCACATTTTGGGGC 0.438000 13 48 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207679361 207679361 + Silent SNP C C T rs142605009 by1000genomes TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:207679361C>T ENST00000367049.4 + 2 234 c.234C>T c.(232-234)tcC>tcT p.S78S CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 78 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGGTTATTCCGGAAGACCGT 0.483000 15 132 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039776 2039776 + Silent SNP A A G rs13296987 byFrequency TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr9:2039776A>G ENST00000382203.1 + 4 875 c.666A>G c.(664-666)caA>caG p.Q222Q SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 222 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcaacagcagcagc 0.637000 4 31 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85656053 85656053 + Silent SNP A A G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:85656053A>G ENST00000341460.5 - 2 1177 c.1128T>C c.(1126-1128)ccT>ccC p.P376P NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 376 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CATCATCCTCAGGAATGGGAT 0.418000 8 16 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6697558 6697558 + Missense_Mutation SNP A A G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr12:6697558A>G ENST00000309577.6 - 23 3534 c.3371T>C c.(3370-3372)cTt>cCt p.L1124P CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000357008.2_Missense_Mutation_p.L1124P Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1124 Helicase C-terminal. 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 TCGAGTGGAAAGCAAGAAGCA 0.428000 17 54 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65270254 65270254 + RNA SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:65270254G>A ENST00000534336.1 + 0 5022 NR_002819.2 GCATAACCCTGAGATTCTTAC 0.348000 6 11 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66356251 66356251 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr4:66356251G>A ENST00000273854.3 - 5 1846 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 416 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTTTGCCGGGGAAGGTACCTG 0.498000 TSP Lung(17;0.13) 10 42 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55792098 55792098 + Missense_Mutation SNP A A T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:55792098A>T ENST00000272313.5 - 12 2087 c.1760T>A c.(1759-1761)tTc>tAc p.F587Y SMEK2_ENST00000345102.5_Missense_Mutation_p.F672Y|SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 672 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAATCCTTTGAATGTCTGAAC 0.313000 6 15 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976497 38976497 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr19:38976497C>T ENST00000355481.4 + 34 5333 c.5202C>T c.(5200-5202)atC>atT p.I1734I RYR1_ENST00000360985.3_Silent_p.I1734I|RYR1_ENST00000359596.3_Silent_p.I1734I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1734 6 X approximate repeats. 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) CTGAATACATCGTGCCCCTCA 0.632000 48 56 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 7273 7273 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chrM:7273G>A ENST00000361624.2 + 1 1370 c.1370G>A c.(1369-1371)gGc>gAc p.457_457insD mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 ATCATCTGTAGGCTCATTCAT 0.428000 36 209 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58448922 58448922 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr20:58448922G>A ENST00000357552.3 - 35 3769 c.3544C>T c.(3544-3546)Cca>Tca p.P1182S SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1182 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAAAACAGTGGTCGTGGAATT 0.338000 9 27 0 0 1 0 0 FAM153A 285596 broad.mit.edu 37 5 177156485 177156485 + Splice_Site SNP C C G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:177156485C>G ENST00000440605.3 - 16 986 c.e16+1 FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) GACGACTTTACCATGTGAACC 0.443000 28 124 0 0 1 0 0 CBX5 23468 broad.mit.edu 37 12 54645939 54645939 + Nonsense_Mutation SNP A A T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr12:54645939A>T ENST00000209875.4 - 3 346 c.210T>A c.(208-210)taT>taA p.Y70* CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*|CBX5_ENST00000439541.2_Nonsense_Mutation_p.Y70* NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 70 Chromo 1. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TCATCTTCTTATACTTTTTCA 0.363000 14 59 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 111 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5137981 5137981 + Missense_Mutation SNP A A C TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr19:5137981A>C ENST00000159111.4 + 18 2668 c.2450A>C c.(2449-2451)cAc>cCc p.H817P KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 817 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGGTGGATCCACGTGATCTGT 0.672000 5 13 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347283 48347283 + Missense_Mutation SNP C C G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr11:48347283C>G ENST00000319856.4 + 1 812 c.791C>G c.(790-792)aCc>aGc p.T264S NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GCCCTCTCCACCTGTGGAGCC 0.458000 46 39 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1563260 1563260 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:1563260C>T ENST00000572621.1 - 30 5086 c.4821G>A c.(4819-4821)gaG>gaA p.E1607E PRPF8_ENST00000304992.6_Silent_p.E1607E Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1607 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTTGTACTGTCTCAATTTCCA 0.413000 10 106 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158298715 158298715 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr1:158298715G>A ENST00000368168.3 - 5 1083 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 326 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) ACTCACCGGCGCCTCATATAC 0.378000 13 40 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27801239 27801239 + Silent SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:27801239C>T ENST00000408964.2 + 1 1851 c.1800C>T c.(1798-1800)atC>atT p.I600I NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 600 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCTTCAAATCGTAAAATCTG 0.393000 12 17 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953959 56953959 + Missense_Mutation SNP C C G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr19:56953959C>G ENST00000504904.3 - 7 1124 c.405G>C c.(403-405)aaG>aaC p.K135N ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AATGCCCTTTCTTAGGTTTTA 0.393000 47 50 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr4:153249385G>A ENST00000281708.4 - 9 2622 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 55 71 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6710697 6710697 + Splice_Site SNP C C T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr12:6710697C>T ENST00000309577.6 - 6 721 c.e6-1 CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 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 AATGAGGGGTCTGGTGGAGAA 0.438000 130 125 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73613273 73613273 + Frame_Shift_Del DEL C C - TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:73613273delC ENST00000264448.6 + 1 388 c.277delC c.(277-279)ccfs p.P94fs ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 94 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCCGCTGTCGCCCCCGCAGCA 0.701 2 4 --- --- --- --- AC093838.7 0 broad.mit.edu 37 2 132405729 132405730 + RNA INS - - G TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr2:132405729_132405730insG ENST00000431979.1 + 0 2154 TTCCCGCACACGTGGTGGCAAA 0.535 2 4 --- --- --- --- TFP1 0 broad.mit.edu 37 3 133423292 133423292 + RNA DEL A A - TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr3:133423292delA ENST00000460564.1 + 0 381 GAGCTAGTAGAAAAAAAAAGT 0.383 2 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589269 67589270 + Frame_Shift_Ins INS - - T TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:67589269_67589270insT ENST00000521381.1 + 10 1873_1874 c.1257_1258insT c.(1255-1260)aatggafs p.G420fs PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G150fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G120fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G420fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 420 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ATAATCCCAAATTGGATGTGAA 0.347 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 12 14 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589588 67589620 + In_Frame_Del DEL GAATATAACACTCAGTTTCAAGAAAAAAGTCGA GAATATAACACTCAGTTTCAAGAAAAAAGTCGA - rs17852841 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA ENST00000521381.1 + 11 1967_1999 c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA c.(1351-1383)del p.EYNTQFQEKSR451del PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 451 E -> K (in dbSNP:rs17852841). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA 0.270 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 7 32 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 7 10 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 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) ctgctgccgctgccgccgccgc 0.738 8 18 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 2 4 --- --- --- --- AC124997.1 0 broad.mit.edu 37 15 25804996 25804996 + RNA DEL C C - TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr15:25804996delC ENST00000422117.1 - 0 167 CCTGTTGGTGCCCGTGCTCCT 0.587 2 4 --- --- --- --- GOLGA8O 728047 broad.mit.edu 37 15 32743123 32743125 + In_Frame_Del DEL CTT CTT - TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr15:32743123_32743125delCTT ENST00000509311.2 - 8 677_679 c.580_582delAAG c.(580-582)del p.K194del GOLGA8O_ENST00000414865.2_Intron NM_001277308.1 NP_001264237.1 golgin A8 family, member O CCTGGTTTGCCTTCTTCTTCTCT 0.562 3 4 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 10 527 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11065298 11065299 + RNA INS - - AGC rs56754608 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr21:11065298_11065299insAGC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ataacaaataGAGCAGCATTTC 0.337 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11083997 11083998 + RNA INS - - GG rs60923226 TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr21:11083997_11083998insGG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) atgatttgtgtttgtgtgtttg 0.277 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11089518 11089519 + RNA INS - - A TCGA-N8-A4PI-01A-21D-A28R-08 TCGA-N8-A4PI-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1461c3-5dbf-4c2b-be33-d525dab72592 737ff135-549c-468c-9ce9-d5b4a845cf64 g.chr21:11089518_11089519insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gactctgtctcaaaaaaacaga 0.480 8 9 --- --- --- ---