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 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 31 31 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31805046 31805046 + Missense_Mutation SNP G G A rs3026403 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:31805046G>A ENST00000350638.5 + 10 1284 c.1249G>A c.(1249-1251)Gga>Aga p.G417R ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q NM_019040.3 NP_061913.3 Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 417 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CATGATGGCCGGAGGCAAGAA 0.498000 3 38 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297449 62297449 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:62297449T>C ENST00000378024.4 - 5 4714 c.4440A>G c.(4438-4440)atA>atG p.I1480M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1480 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) CAGGAGCTTTTATCTCTCCTT 0.423000 92 120 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152590365 152590365 + Silent SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:152590365G>A ENST00000367255.5 - 99 19231 c.18630C>T c.(18628-18630)ccC>ccT p.P6210P SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000423061.1_Silent_p.P6139P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000265368.4_Silent_p.P6210P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6210 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGGACGCCGGGGCTCTGCG 0.547000 HNSCC(10;0.0054) 29 48 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 3 31 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23956667 23956667 + Silent SNP T T A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chrX:23956667T>A ENST00000379211.3 + 8 1338 c.789T>A c.(787-789)ggT>ggA p.G263G NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 263 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TTTCTAGGGGTCCATACTTAA 0.333000 4 95 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 76953241 76953241 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr18:76953241G>A ENST00000426216.2 + 9 949 c.932G>A c.(931-933)aGt>aAt p.S311N ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 311 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GACATTCACAGTTTCGAAGGC 0.333000 4 87 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161529848 161529848 + Missense_Mutation SNP A A G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:161529848A>G ENST00000392142.4 + 22 4341 c.4193A>G c.(4192-4194)aAa>aGa p.K1398R MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1398 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAAGGCATCAAACACCCCAAT 0.423000 5 141 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63669773 63669773 + Missense_Mutation SNP A A G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:63669773A>G ENST00000402010.2 + 12 1784 c.1205A>G c.(1204-1206)aAt>aGt p.N402S MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000509502.2_Missense_Mutation_p.N369S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000508192.1_Missense_Mutation_p.N402S NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 402 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGTCGGCCAATCCCAAGCAG 0.592000 19 31 0 0 1 0 0 SCGB3A2 117156 broad.mit.edu 37 5 147261032 147261032 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:147261032G>A ENST00000296694.4 + 2 172 c.79G>A c.(79-81)Gtg>Atg p.V27M SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_5'UTR|C5orf46_ENST00000510432.1_Intron NM_054023.4 NP_473364.1 Q96PL1 SG3A2_HUMAN secretoglobin, family 3A, member 2 27 extracellular region binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCAACAAAGTGCCCCTTCC 0.473000 7 85 0 0 1 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 4 167 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169847313 169847313 + Missense_Mutation SNP G G T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr3:169847313G>T ENST00000494943.1 - 8 979 c.911C>A c.(910-912)tCt>tAt p.S304Y PHC3_ENST00000495893.1_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 304 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTTTATTAGAGAATGAGGCTG 0.343000 12 34 3.27435e-08 3.39129e-08 1 1 0 ACAD10 80724 broad.mit.edu 37 12 112165863 112165863 + Missense_Mutation SNP A A G rs140075311 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr12:112165863A>G ENST00000455480.2 + 10 1429 c.1252A>G c.(1252-1254)Ata>Gta p.I418V ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.I387V NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 387 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CAGACGAGCCATATACACTGC 0.542000 5 167 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154684108 154684108 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr7:154684108T>C ENST00000404039.1 + 26 2911 c.2324T>C c.(2323-2325)aTc>aCc p.I775T DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000377770.3_Missense_Mutation_p.I839T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 839 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TACCGGTCCATCATCAACTTC 0.512000 19 27 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 8 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 178994549 178994549 + Silent SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:178994549T>C ENST00000377001.2 + 4 690 c.690T>C c.(688-690)aaT>aaC p.N230N RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000319449.4_Silent_p.N230N Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 230 RUN. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTATAGACAATAAACATCTCT 0.418000 HNSCC(44;0.11) 17 21 0 0 1 0 0 METTL21A 151194 broad.mit.edu 37 2 208486586 208486586 + Missense_Mutation SNP G G C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr2:208486586G>C ENST00000411432.1 - 3 419 c.203C>G c.(202-204)tCt>tGt p.S68C METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000432416.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 68 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 CTCCACGGCAGAGCGGCCCCT 0.557000 31 35 0 0 1 0 0 TMEM126B 55863 broad.mit.edu 37 11 85342776 85342776 + Missense_Mutation SNP C C G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:85342776C>G ENST00000534341.1 + 2 133 c.127C>G c.(127-129)Cta>Gta p.L43V TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000358867.6_Missense_Mutation_p.L43V Q8IUX1 T126B_HUMAN transmembrane protein 126B 43 integral to membrane kidney(1)|large_intestine(2)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGTCCTTCTCTAGAAGATGC 0.343000 6 53 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402858 124402858 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr10:124402858G>A ENST00000338354.3 + 53 7292 c.7186G>A c.(7186-7188)Gtc>Atc p.V2396I DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2396 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) GGTGGACGTCGTCCTGGGTCC 0.647000 19 18 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113699965 113699965 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:113699965T>C ENST00000003302.4 - 10 1081 c.1013A>G c.(1012-1014)gAt>gGt p.D338G USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 338 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AAGCTCAACATCACCCTCCAC 0.478000 29 21 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 3 4 --- --- --- --- PCDHB10 56126 broad.mit.edu 37 5 140574170 140574175 + In_Frame_Del DEL AGGCCG AGGCCG - rs58244182 byFrequency TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:140574170_140574175delAGGCCG ENST00000239446.4 + 1 2229_2234 c.2045_2050delAGGCCG c.(2044-2052)cag>c p.QAE682del NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 682 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAGGCCCAGGCCGAGGCCGACTT 0.704 12 87 --- --- --- --- CTC-338M12.4 101928649 broad.mit.edu 37 5 180699086 180699087 + RNA INS - - A rs149736603 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:180699086_180699087insA ENST00000511331.1 + 0 918_919 CTC-338M12.3_ENST00000507434.1_RNA CTTTCCATCAGAAAAAAAAAAA 0.406 2 4 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833457 56833458 + In_Frame_Ins INS - - GAACCC rs72376816 by1000genomes TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr17:56833457_56833458insGAACCC ENST00000308249.2 + 1 228_229 c.99_100insGAACCC c.(97-102)ccaacc>ccGAACCCaacc p.32_33insPN NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 32 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) agccggagccggaacccgaacc 0.673 3 6 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77807917 77807918 + In_Frame_Ins INS - - GCCGCC TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr17:77807917_77807918insGCCGCC ENST00000269397.4 - 5 1700_1701 c.1523_1524insGGCGGC c.(1522-1524)ggc>gGGCGGCgc p.508_509insRR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 508 Interaction with BMI1.|Poly-Ala. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGGGTgccgctgccgccgccac 0.683 13 37 --- --- --- ---