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 ZMYND15 84225 broad.mit.edu 37 17 4644908 4644908 + Missense_Mutation SNP A A T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:4644908A>T ENST00000433935.1 + 3 681 c.624A>T c.(622-624)ttA>ttT p.L208F ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 208 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CCTGTCTCTTACTTGTGACGG 0.582000 7 321 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184184 26184184 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr6:26184184G>A ENST00000356530.3 + 1 227 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CCCGACACCGGCATCTCCTCT 0.577000 5 288 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27207790 27207790 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:27207790G>A ENST00000394906.2 - 12 1431 c.1354C>T c.(1354-1356)Cga>Tga p.R452* FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*|FLOT2_ENST00000394908.4_Nonsense_Mutation_p.R397* Q14254 FLOT2_HUMAN flotillin 2 397 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GCCAGCAGTCGGTTCACTTCT 0.572000 11 100 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 5 60 0.0215528 0.0224508 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 206 0 0 1 0 0 CYHR1 50626 broad.mit.edu 37 8 145690245 145690245 + Missense_Mutation SNP A A C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr8:145690245A>C ENST00000438911.2 - 1 173 c.40T>G c.(40-42)Tcc>Gcc p.S14A CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A NM_138496.1 NP_612505.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 14 perinuclear region of cytoplasm zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2) 7 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ACCAGATGGGACAGGGCTGTG 0.622000 10 34 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41004014 41004014 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:41004014G>A ENST00000308423.2 + 1 814 c.654G>A c.(652-654)ctG>ctA p.L218L NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 218 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CCCGTGGTCTGCAATCAGGGG 0.607000 26 69 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124387 142124387 + RNA SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:142124387T>C ENST00000390376.2 - 0 90 GTCTTCAGGATGTGGAATTTT 0.522000 4 145 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12238281 12238281 + Missense_Mutation SNP G G C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:12238281G>C ENST00000281141.4 + 1 317 c.37G>C c.(37-39)Gcg>Ccg p.A13P CDC123_ENST00000378900.2_Missense_Mutation_p.A13P|CDC123_ENST00000455773.3_3'UTR NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 13 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 CCAGTTCTCCGCGTGGTACCC 0.622000 10 142 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25836841 25836841 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr4:25836841G>A ENST00000399878.3 - 3 960 c.838C>T c.(838-840)Cgc>Tgc p.R280C SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000513364.1_5'UTR NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 280 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 ATCCTCTGGCGTCGAGTGGCC 0.537000 15 224 0 0 1 0 0 CCDC153 283152 broad.mit.edu 37 11 119061065 119061065 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr11:119061065G>A ENST00000503566.2 - 6 576 c.577C>T c.(577-579)Cgc>Tgc p.R193C CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C Q494R4 CC153_HUMAN coiled-coil domain containing 153 193 lung(3)|stomach(1) 4 CCAAACTGGCGTTGCTGCTCC 0.572000 59 94 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111566 55111566 + Missense_Mutation SNP A A G TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr11:55111566A>G ENST00000314721.2 + 1 940 c.890A>G c.(889-891)aAa>aGa p.K297R NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 AATGCTATGAAAAATCTCTGG 0.313000 23 36 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:7578413C>A ENST00000420246.2 - 5 649 c.517G>T c.(517-519)Gtg>Ttg p.V173L TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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) CAGCGCCTCACAACCTCCGTC 0.662000 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) 78 17 9.35349e-44 1.15002e-43 1 1 0 KIAA1210 57481 broad.mit.edu 37 X 118222263 118222263 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chrX:118222263G>A ENST00000402510.2 - 11 2929 c.2930C>T c.(2929-2931)tCt>tTt p.S977F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 977 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGGCTTCATAGAAATGCTCTC 0.463000 31 6 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635291 7635291 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr12:7635291G>A ENST00000359156.4 - 14 3397 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000541972.1_Silent_p.F1053F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1065 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ATAATGCGACGAAAATGGCCA 0.423000 9 204 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56418203 56418203 + Missense_Mutation SNP T T A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr6:56418203T>A ENST00000370754.5 - 61 15293 c.15294A>T c.(15292-15294)caA>caT p.Q5098H DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4918H|DST_ENST00000244364.6_Missense_Mutation_p.Q2506H|DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H Q03001 DYST_HUMAN dystonin 4918 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTCAGACCCTTGTGTTTTTA 0.318000 4 98 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96525640 96525640 + Missense_Mutation SNP G G T rs77864759 TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:96525640G>T ENST00000456556.1 - 61 3949 c.3865C>A c.(3865-3867)Ctt>Att p.L1289I ANKRD36C_ENST00000419039.2_Missense_Mutation_p.L316I|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.L540I ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCCAATTCAAGTGTTTCATGC 0.284000 3 20 0.150653 0.152689 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 5 24 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108920291 108920291 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr12:108920291G>A ENST00000228284.3 - 16 2189 c.1955C>T c.(1954-1956)cCt>cTt p.P652L SART3_ENST00000431469.2_Missense_Mutation_p.P616L NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 652 Required for nuclear localization. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TCCAGCTGCAGGGATGCTGTT 0.507000 Porokeratosis 7 149 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304793 102304793 + RNA SNP A A C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr15:102304793A>C ENST00000561463.1 + 0 12839 GCGTGGGAAGAAGAAGACACT 0.592000 5 24 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16059822 16059822 + Missense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr19:16059822C>T ENST00000322107.1 + 1 5 c.5C>T c.(4-6)cCt>cTt p.P2L NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GTATCCATGCCTAGTCAGAAC 0.438000 6 94 0 0 1 0 0 OR2A7 401427 broad.mit.edu 37 7 143956629 143956629 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:143956629G>A ENST00000493325.1 - 1 186 c.93C>T c.(91-93)tcC>tcT p.S31S RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) CGTAGAACAGGGAGAAGAGCC 0.537000 10 263 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135352317 135352317 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:135352317G>A ENST00000463117.2 + 11 1603 c.1331G>A c.(1330-1332)cGc>cAc p.R444H SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 444 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GGCCTGGCTCGCATGGAGTTG 0.448000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 8 493 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3974138 3974138 + Silent SNP C C A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:3974138C>A ENST00000381638.2 - 26 4039 c.3915G>T c.(3913-3915)ggG>ggT p.G1305G NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1305 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTGAATATGGCCCACAGAAGT 0.438000 61 93 4.96213e-28 5.9073e-28 1 1 0 ZNF607 84775 broad.mit.edu 37 19 38189657 38189657 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr19:38189657G>T ENST00000355202.4 - 5 1970 c.1375C>A c.(1375-1377)Cgt>Agt p.R459S ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GAGGCACAACGAAAGGACTTC 0.413000 5 110 1 1 1 1 0 ADPRHL1 113622 broad.mit.edu 37 13 114107558 114107558 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr13:114107558G>A ENST00000375418.3 - 1 281 c.195C>T c.(193-195)acC>acT p.T65T NM_138430.3 NP_612439.2 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 65 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) GGGCCTCGGCGGTTGCGATGT 0.647000 41 17 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47557244 47557244 + Missense_Mutation SNP G G A rs145609043 TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr21:47557244G>A ENST00000397748.1 - 13 1491 c.1448C>T c.(1447-1449)gCg>gTg p.A483V FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000291670.5_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.G468G O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 483 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GGCTTTGGCCGCCACCTGCAA 0.597000 32 23 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236129 21236129 + Nonsense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:21236129G>T ENST00000233242.1 - 25 4246 c.4119C>A c.(4117-4119)taC>taA p.Y1373* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1373 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCCACCACTGTAGGAGGCGG 0.512000 10 214 0.0135373 0.0143 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129419488 129419488 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr6:129419488G>A ENST00000421865.2 + 4 616 c.567G>A c.(565-567)ccG>ccA p.P189P NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 189 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGGGCCACCGTCATATGCCA 0.448000 29 53 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445137 10445137 + Missense_Mutation SNP C C G TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr4:10445137C>G ENST00000326756.3 - 3 3254 c.2816G>C c.(2815-2817)cGg>cCg p.R939P NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGGCTGGTTCCGACGGGGACA 0.448000 7 174 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142965221 142965221 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:142965221G>A ENST00000479303.1 + 6 801 c.743G>A c.(742-744)gGc>gAc p.G248D AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D|GSTK1_ENST00000358406.5_Missense_Mutation_p.G192D|GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 192 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) CATGTGGATGGCCAAACCCAC 0.547000 7 800 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74901641 74901641 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:74901641G>A ENST00000357877.2 + 8 988 c.839G>A c.(838-840)cGg>cAg p.R280Q SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 280 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CTCGGGGGCCGGAAGACCCTC 0.562000 20 43 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35193058 35193058 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr15:35193058G>A ENST00000156471.5 - 20 2233 c.2008C>T c.(2008-2010)Ctg>Ttg p.L670L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 670 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ATAGTCTCCAGCACAGCCTGT 0.438000 4 90 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48725944 48725944 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr3:48725944T>C ENST00000328631.5 - 6 1266 c.1043A>G c.(1042-1044)gAt>gGt p.D348G NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 348 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ATCCTCAGCATCTGAGTCCAG 0.557000 13 33 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76849196 76849196 + Missense_Mutation SNP A A G TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chrX:76849196A>G ENST00000373344.5 - 26 6294 c.6080T>C c.(6079-6081)cTt>cCt p.L2027P ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2027 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGCCATTCGAAGAATTTCAAA 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 47 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 44 58 0 0 1 0 0 PRDM12 59335 broad.mit.edu 37 9 133553963 133553963 + Missense_Mutation SNP C C A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr9:133553963C>A ENST00000253008.2 + 4 678 c.618C>A c.(616-618)caC>caA p.H206Q NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 206 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GAAACTCACACAACACCTTCC 0.592000 4 93 0.00024832 0.00027797 1 1 0 COL4A6 1288 broad.mit.edu 37 X 107417809 107417809 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chrX:107417809G>T ENST00000394872.2 - 31 3233 c.3002C>A c.(3001-3003)cCt>cAt p.P1001H COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1001H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1000H Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1001 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 AGGAGCTCCAGGTAGGCCTGG 0.547000 Alport syndrome with Diffuse Leiomyomatosis 17 20 0.000566183 0.000624467 1 1 0 SLC39A10 57181 broad.mit.edu 37 2 196582986 196582986 + Silent SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:196582986C>T ENST00000409086.3 + 8 2351 c.2076C>T c.(2074-2076)ttC>ttT p.F692F SLC39A10_ENST00000541054.1_Silent_p.F242F|SLC39A10_ENST00000359634.5_Silent_p.F692F NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 692 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GTGCAGCTTTCAGTGCTGGAT 0.363000 24 73 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95081532 95081532 + Missense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr9:95081532C>T ENST00000545558.1 - 5 880 c.388G>A c.(388-390)Gtg>Atg p.V130M NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M|NOL8_ENST00000535387.1_Missense_Mutation_p.V130M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M Q76FK4 NOL8_HUMAN nucleolar protein 8 130 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GTCCCTGGCACAGCTTTCATA 0.468000 16 30 0 0 1 0 0 CTSB 1508 broad.mit.edu 37 8 11705211 11705211 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr8:11705211G>A ENST00000353047.6 - 7 906 c.653C>T c.(652-654)aCc>aTc p.T218I CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 218 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CTGTTTGTAGGTCGGGCTGTA 0.657000 53 141 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25486740 25486740 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr13:25486740G>T ENST00000381884.4 - 2 609 c.424C>A c.(424-426)Ctt>Att p.L142I CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 142 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTTTTAAAAAGTGGGTCTTTA 0.388000 8 94 0.0809354 0.0831528 1 1 0 FAM178A 0 broad.mit.edu 37 10 102698451 102698451 + Missense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:102698451C>T ENST00000238961.3 + 11 2760 c.2612C>T c.(2611-2613)cCc>cTc p.P871L FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 871 TCTTTGTTTCCCCTGGAGAAT 0.368000 12 159 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3083466 3083466 + Missense_Mutation SNP G G A rs149432620 byFrequency TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr6:3083466G>A ENST00000259808.4 + 5 905 c.607G>A c.(607-609)Gca>Aca p.A203T RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 203 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGACGTCAACGCAAAGCCCAC 0.488000 4 88 0 0 1 0 0 HOXA11 3207 broad.mit.edu 37 7 27222531 27222531 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:27222531G>A ENST00000006015.3 - 2 897 c.826C>T c.(826-828)Cgc>Tgc p.R276C NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 276 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R276S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TTGAGCATGCGGGACAGTTGC 0.458000 T NUP98 CML 4 172 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111605 55111605 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr11:55111605G>T ENST00000314721.2 + 1 979 c.929G>T c.(928-930)aGa>aTa p.R310I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GTTAGAAAAAGAGTATCTCCC 0.348000 15 35 1.15088e-07 1.32794e-07 1 1 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993836 45993836 + Silent SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr21:45993836C>T ENST00000400374.3 + 1 231 c.201C>T c.(199-201)tgC>tgT p.C67C TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 67 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CCAGCCCCTGCTGCCCAGTGA 0.711000 23 139 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 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 6 203 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48117859 48117859 + Silent SNP A A G TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr16:48117859A>G ENST00000311303.3 - 28 4299 c.3954T>C c.(3952-3954)gtT>gtC p.V1318V ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1318 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CGCAGTTGAGAACTGTGTTGA 0.512000 42 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072517 9072517 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr19:9072517G>T ENST00000397910.4 - 3 15132 c.14929C>A c.(14929-14931)Caa>Aaa p.Q4977K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4979 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACCTGTTTGGGTGGTGATG 0.483000 23 66 3.62473e-10 4.24773e-10 1 1 0 OR51S1 119692 broad.mit.edu 37 11 4869860 4869860 + Silent SNP A A T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr11:4869860A>T ENST00000322101.2 - 1 654 c.579T>A c.(577-579)gcT>gcA p.A193A MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCAAACGAGCCACATCTG 0.557000 8 68 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170316 63170316 + Missense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:63170316C>T ENST00000399298.3 - 6 1239 c.871G>A c.(871-873)Gcg>Acg p.A291T TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 291 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AAGTTCTTCGCGGCAAAGAAC 0.512000 26 48 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202323545 202323545 + Silent SNP C C A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr2:202323545C>A ENST00000194530.3 + 3 416 c.51C>A c.(49-51)ctC>ctA p.L17L STRADB_ENST00000392249.2_Silent_p.L17L|STRADB_ENST00000488196.1_3'UTR NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 17 activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 TTGAATCACTCAGACCTGAAA 0.408000 13 201 5.50884e-06 6.26004e-06 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 44 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072792 31072792 + Missense_Mutation SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr16:31072792C>T ENST00000538906.1 - 3 2241 c.1457G>A c.(1456-1458)tGc>tAc p.C486Y ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AGCATCTTGGCATTCCACATG 0.672000 39 76 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489293 149489293 + RNA SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:149489293G>A ENST00000378016.2 + 0 5538 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCGGCAGCCCGGGTAAGGGGG 0.672000 5 24 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281990 140281990 + Silent SNP C C T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr3:140281990C>T ENST00000458420.3 + 15 2617 c.2427C>T c.(2425-2427)ccC>ccT p.P809P NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 809 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGCAGCCTCCCTTCCTCCAGT 0.542000 HNSCC(16;0.037) 9 104 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609945 115609945 + Nonsense_Mutation SNP C C A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:115609945C>A ENST00000361384.2 - 2 1836 c.919G>T c.(919-921)Gaa>Taa p.E307* DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307* NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 307 cell division|mitosis nucleus hydrolase activity p.E307*(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TGAGTGTCTTCATCACTTTGA 0.398000 Other identified genes with known or suspected DNA repair function 65 118 3.30712e-30 4.00055e-30 1 1 0 H1FNT 341567 broad.mit.edu 37 12 48723559 48723559 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr12:48723559G>A ENST00000335017.1 + 1 797 c.485G>A c.(484-486)cGc>cAc p.R162H NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 162 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CAGCCCCTTCGCAAGGCGGCC 0.716000 3 4 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50455076 50455076 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:50455076G>A ENST00000331340.3 + 6 778 c.623G>A c.(622-624)cGa>cAa p.R208Q IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000359197.5_Intron NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 208 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TATTGTGGCCGAAGCTATAAA 0.473000 """D,T""" BCL6 """ALL, DLBCL""" 14 44 0 0 1 0 0 SGK223 0 broad.mit.edu 37 8 8185589 8185589 + Silent SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr8:8185589G>A ENST00000520004.1 - 5 2967 c.2703C>T c.(2701-2703)ggC>ggT p.G901G SGK223_ENST00000330777.4_Silent_p.G901G Q86YV5 SG223_HUMAN 901 ATP binding|non-membrane spanning protein tyrosine kinase activity TCCCGCAGCCGCCTCTGTTGC 0.657000 15 222 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902032 247902032 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr1:247902032T>C ENST00000283225.2 + 1 116 c.116T>C c.(115-117)aTg>aCg p.M39T RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GCTGTGCTGATGAATTTAGTC 0.448000 14 72 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632509 143632509 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:143632509T>C ENST00000408955.2 + 1 251 c.184T>C c.(184-186)Ttt>Ctt p.F62L NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F62L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CATGTATTTCTTTCTCACCAA 0.502000 24 455 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102604004 102604004 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr7:102604004G>A ENST00000393772.2 - 8 1126 c.700C>T c.(700-702)Cga>Tga p.R234* FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234* Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 234 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GTTTTGGGTCGGAGAAGACAA 0.338000 41 154 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735813 76735813 + Missense_Mutation SNP G G A TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:76735813G>A ENST00000287239.4 + 8 2207 c.1718G>A c.(1717-1719)cGt>cAt p.R573H KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 573 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CGTATGCGTCGTAAAACTGAA 0.453000 6 141 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38564814 38564814 + Missense_Mutation SNP G G T TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:38564814G>T ENST00000423485.1 - 11 1430 c.1272C>A c.(1270-1272)aaC>aaA p.N424K NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 424 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) AACACTTCTTGTTTAACTGGA 0.363000 4 83 0.00909568 0.00974537 1 1 0 OR5K1 26339 broad.mit.edu 37 3 98188566 98188566 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr3:98188566T>C ENST00000332650.5 + 1 243 c.146T>C c.(145-147)aTa>aCa p.I49T NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTGGCACTGATATTTACACAC 0.458000 21 295 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39373836 39373836 + Missense_Mutation SNP T T C TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr3:39373836T>C ENST00000326306.4 + 2 152 c.14T>C c.(13-15)cTt>cCt p.L5P CCR8_ENST00000414803.1_Missense_Mutation_p.L5P|CCR8_ENST00000545843.1_5'UTR NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 5 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GATTATACACTTGACCTCAGT 0.413000 43 58 0 0 1 0 0 RP11-275O4.3 0 broad.mit.edu 37 1 227698346 227698346 + RNA DEL C C - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr1:227698346delC ENST00000422837.1 - 0 569 GAGGAGGAGGCAGGGTGAGTC 0.592 2 4 --- --- --- --- LAMC3 10319 broad.mit.edu 37 9 133884973 133884973 + Splice_Site DEL A A - rs35774154 TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr9:133884973delA ENST00000361069.4 + 1 505 c.373_splice c.e1+1 p.L124_splice LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 124 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCCTCCGCCTAGGTAAGCGCG 0.687 2 4 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141069453 141069453 + RNA DEL C C - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr9:141069453delC ENST00000503395.1 + 0 1023 GTCTGCTCCTCCTTCTCGCGC 0.662 2 4 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81052006 81052026 + In_Frame_Del DEL GCAGCAGCGGCAGTGGCAGCA GCAGCAGCGGCAGTGGCAGCA - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA ENST00000334512.5 + 11 1422_1442 c.850_870delGCAGCAGCGGCAGTGGCAGCA c.(850-870)del p.AAAAVAA284del ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 284 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ggcagccgctgcagcagcggcagtggcagcagcagcagcCA 0.652 37 100 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 10 241 --- --- --- --- UNKL 64718 broad.mit.edu 37 16 1417745 1417745 + Frame_Shift_Del DEL C C - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr16:1417745delC ENST00000389221.4 - 13 1690 c.1691delG c.(1690-1692)gafs p.G564fs UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 564 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) CAGCTCAGCTCCGTTTGGACT 0.657 2 4 --- --- --- --- UNK 85451 broad.mit.edu 37 17 73780866 73780866 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr17:73780866delT ENST00000293218.3 + 2 133 c.133delT c.(133-135)tcfs p.F45fs H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTCTTCACGTTCTCGTGGCG 0.617 8 45 --- --- --- --- NLRP12 91662 broad.mit.edu 37 19 54314138 54314148 + Frame_Shift_Del DEL CACTCTGGTTC CACTCTGGTTC - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr19:54314138_54314148delCACTCTGGTTC ENST00000324134.6 - 3 933_943 c.765_775delGAACCAGAGTG c.(763-777)atccfs p.MNQSA255fs NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 255 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CATTCCGTGGCACTCTGGTTCATCTCCCTGC 0.564 14 6 --- --- --- --- AL118506.1 0 broad.mit.edu 37 20 62585381 62585381 + Frame_Shift_Del DEL G G - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chr20:62585381delG ENST00000595604.1 + 1 375 c.375delG c.(373-375)ctfs p.L125fs UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000354216.6_Intron AAATGAGGCTGGGGGGAGGAG 0.597 2 4 --- --- --- --- LRCH2 57631 broad.mit.edu 37 X 114361427 114361427 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RH-01A-12D-A34A-08 TCGA-TQ-A7RH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92353c63-d5c2-4230-a396-f59612726e28 ec2bcc74-83ae-40d9-84f1-4655f7dcb336 g.chrX:114361427delT ENST00000317135.8 - 16 1800 c.1770delA c.(1768-1770)acfs p.T590fs LRCH2_ENST00000538422.1_Intron NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 590 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 CTGGAGATTGTGTTGACATAT 0.284 2 4 --- --- --- ---