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 PIGP 51227 broad.mit.edu 37 21 38444872 38444872 + Missense_Mutation SNP T T G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr21:38444872T>G ENST00000464265.1 - 1 239 c.16A>C c.(16-18)Aca>Cca p.T6P PIGP_ENST00000399098.1_Intron|PIGP_ENST00000360525.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399102.1_Intron NM_153681.2 NP_710148.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P 6 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) GCCAGCGATGTGCTCCGTGGC 0.607000 49 36 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 58 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144761510 144761510 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr6:144761510C>T ENST00000367545.3 + 12 1415 c.1415C>T c.(1414-1416)gCt>gTt p.A472V NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 472 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GATCTTGAGGCTGAACAGGTG 0.358000 8 29 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80640854 80640854 + Missense_Mutation SNP T T G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr5:80640854T>G ENST00000307624.3 - 8 808 c.780A>C c.(778-780)gaA>gaC p.E260D NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 260 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GAACTCCAACTTCAACACTGT 0.577000 23 21 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 83 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9322245 9322245 + Silent SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:9322245G>A ENST00000377403.2 + 4 1175 c.873G>A c.(871-873)cgG>cgA p.R291R H6PD_ENST00000602477.1_Silent_p.R302R NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 291 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTGTGCTGCGGCACAAGCTTC 0.642000 3 20 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 57 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117564514 117564514 + Silent SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:117564514T>C ENST00000256652.4 + 7 2395 c.2337T>C c.(2335-2337)gcT>gcC p.A779A CD101_ENST00000369470.1_Silent_p.A779A NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 779 Ig-like C2-type 6. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATCACTGTGCTGTGGAGGAAT 0.433000 28 50 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 34 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52859253 52859253 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:52859253C>T ENST00000371568.3 - 6 1162 c.944G>A c.(943-945)cGc>cAc p.R315H ORC1_ENST00000371566.1_Missense_Mutation_p.R315H NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 315 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding p.R315H(1) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAGGATTATGCGATGTTCAGG 0.468000 4 114 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42085066 42085066 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:42085066C>T ENST00000395925.3 - 6 827 c.743G>A c.(742-744)cGc>cAc p.R248H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 248 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATAGGGGCTGCGCTGGCCAGT 0.552000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 59 61 0 0 1 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4665596 4665596 + Missense_Mutation SNP G G C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr12:4665596G>C ENST00000228843.9 + 9 900 c.850G>C c.(850-852)Gat>Cat p.D284H RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D267H NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 284 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCTGTCTTCAGATACCACTAG 0.423000 22 52 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54191706 54191706 + Nonsense_Mutation SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr6:54191706G>T ENST00000259782.4 + 4 712 c.616G>T c.(616-618)Gaa>Taa p.E206* TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202* NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 206 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAGCATGAATGAAATGACAGT 0.368000 10 28 0.000442599 0.000454894 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 38 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12071006 12071006 + Missense_Mutation SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:12071006T>C ENST00000356352.2 - 2 1356 c.883A>G c.(883-885)Att>Gtt p.I295V UPF2_ENST00000357604.5_Missense_Mutation_p.I295V|UPF2_ENST00000397053.2_Missense_Mutation_p.I295V Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 295 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TCAGCATTAATAATATTTTTT 0.368000 18 48 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112722783 112722783 + Missense_Mutation SNP C C T rs35252762 byFrequency TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr2:112722783C>T ENST00000295408.4 + 5 1030 c.773C>T c.(772-774)gCg>gTg p.A258V MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 258 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ACGGAGATGGCGGTCTTCAGT 0.502000 4 44 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234529 155234529 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:155234529G>A ENST00000368361.4 - 9 1285 c.970C>T c.(970-972)Cgg>Tgg p.R324W CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W P49760 CLK2_HUMAN CDC-like kinase 2 324 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTACCACCCGCACAGCTGTG 0.532000 Other conserved DNA damage response genes 4 54 0 0 1 0 0 HSDL2 84263 broad.mit.edu 37 9 115200815 115200815 + Missense_Mutation SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr9:115200815C>G ENST00000398805.3 + 7 930 c.703C>G c.(703-705)Cca>Gca p.P235A HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 235 peroxisome oxidoreductase activity|sterol binding NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 TTTCCAAAAGCCAAAAAGTTT 0.358000 20 43 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246754968 246754968 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:246754968C>T ENST00000366513.4 + 2 373 c.104C>T c.(103-105)gCa>gTa p.A35V CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A35V NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 35 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CTGCCTTCTGCATCAGATGAA 0.498000 17 64 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46858298 46858298 + Silent SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr18:46858298G>T ENST00000269445.6 - 8 1156 c.699C>A c.(697-699)gcC>gcA p.A233A DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.A78A NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 233 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGAAAACATGGGCCCCTGGAG 0.403000 3 45 0.00024832 0.00026251 1 1 0 RRAS2 22800 broad.mit.edu 37 11 14317330 14317330 + Missense_Mutation SNP T T A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr11:14317330T>A ENST00000545643.1 - 2 511 c.198A>T c.(196-198)agA>agT p.R66S RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.R60S NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 60 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) GCCGGGCTGCTCTGTCATCTA 0.308000 70 34 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23296635 23296635 + Missense_Mutation SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:23296635C>G ENST00000258733.4 + 4 787 c.492C>G c.(490-492)caC>caG p.H164Q GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.H164Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 164 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CTTTTCCTCACCACCCCGGAT 0.463000 21 81 0 0 1 0 0 GOLGA8F 100132565 broad.mit.edu 37 15 28632820 28632820 + Missense_Mutation SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr15:28632820T>C ENST00000526619.2 + 14 1761 c.746T>C c.(745-747)cTg>cCg p.L249P GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000450328.2_Missense_Mutation_p.L245P|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.L463P lung(4) 4 CCACAGGACCTGGAGAGCAGG 0.617000 4 52 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151020749 151020749 + Silent SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:151020749T>C ENST00000368926.5 + 1 534 c.426T>C c.(424-426)aaT>aaC p.N142N NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 142 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTATAGCCAATAGTCAGGAGC 0.592000 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 47 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50948877 50948877 + Silent SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:50948877C>G ENST00000374103.4 - 16 2104 c.2019G>C c.(2017-2019)cgG>cgC p.R673R OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 673 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GAACATGGTGCCGGTGACTGC 0.637000 4 46 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 30 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8789897 8789897 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr17:8789897G>A ENST00000447110.1 - 13 2055 c.1931C>T c.(1930-1932)gCc>gTc p.A644V PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 644 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GCCCTCCAGGGCCTGGGCTTC 0.602000 19 23 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111413372 111413372 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr2:111413372G>A ENST00000535254.1 - 15 1827 c.1760C>T c.(1759-1761)gCg>gTg p.A587V BUB1_ENST00000409311.1_Missense_Mutation_p.A607V|BUB1_ENST00000302759.6_Missense_Mutation_p.A607V NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 607 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGGTGTAGACGCAAGTTGTGC 0.463000 4 136 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr3:152554482C>T ENST00000305097.3 + 1 1747 c.911C>T c.(910-912)gCc>gTc p.A304V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 304 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478000 4 97 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13049394 13049394 + Silent SNP A A G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr18:13049394A>G ENST00000506447.1 + 16 2684 c.2604A>G c.(2602-2604)acA>acG p.T868T CEP192_ENST00000325971.8_Silent_p.T272T|CEP192_ENST00000430049.2_Silent_p.T393T NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 463 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATTCAGTTACAAATAGAGAGA 0.363000 14 45 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- --- LOXL4 84171 broad.mit.edu 37 10 100015403 100015403 + Frame_Shift_Del DEL G G - TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:100015403delG ENST00000260702.3 - 10 1672 c.1522delC c.(1522-1524)agfs p.Q508fs RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 508 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCGTGCCTCTGGCACTGCTGC 0.667 15 48 --- --- --- ---