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 PCDHGB7 0 broad.mit.edu 37 5 140799049 140799049 + Silent SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr5:140799049G>A ENST00000398594.2 + 1 1623 c.1623G>A c.(1621-1623)gcG>gcA p.A541A PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCGCCCGCGCTCAGCGCCA 0.721000 7 49 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50863161 50863161 + Missense_Mutation SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr10:50863161C>T ENST00000395562.2 + 13 1878 c.1409C>T c.(1408-1410)cCc>cTc p.P470L CHAT_ENST00000337653.2_Missense_Mutation_p.P552L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L|CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 552 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AGACTGGTGCCCACCTACGAG 0.532000 5 65 0 0 1 0 0 NR2C2 7182 broad.mit.edu 37 3 15062400 15062400 + Missense_Mutation SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr3:15062400C>T ENST00000425241.1 + 5 879 c.517C>T c.(517-519)Cgg>Tgg p.R173W NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 173 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCAGTTTTGCCGGCTGAAAAA 0.413000 3 50 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 39 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 104 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16528979 16528979 + Silent SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:16528979G>A ENST00000270747.3 - 13 2134 c.1998C>T c.(1996-1998)caC>caT p.H666H ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 666 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGAACACGTGGCCGGGGA 0.642000 13 27 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 3 46 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179078464 179078464 + Silent SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:179078464C>T ENST00000502732.1 - 12 2141 c.1938G>A c.(1936-1938)agG>agA p.R646R ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000512653.1_Silent_p.R631R|ABL2_ENST00000504405.1_Silent_p.R610R|ABL2_ENST00000344730.3_Silent_p.R631R NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 646 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CCTTCCTATCCCTGGTGAAGC 0.547000 T ETV6 AML 9 90 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672106 39672106 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr21:39672106G>A ENST00000398930.1 + 4 1277 c.923G>A c.(922-924)gGt>gAt p.G308D KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000328656.3_Missense_Mutation_p.G308D Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 308 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 ATCTACTGGGGTTTTGAGTTT 0.458000 27 36 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 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 20 39 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 11 4 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007178 6007178 + Missense_Mutation SNP T T C TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr11:6007178T>C ENST00000332249.4 - 1 1037 c.983A>G c.(982-984)aAg>aGg p.K328R NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 328 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATCAATCCTTTTGTGTAAA 0.493000 8 11 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20484148 20484148 + Silent SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr20:20484148C>T ENST00000202677.6 - 35 5197 c.5055G>A c.(5053-5055)gtG>gtA p.V1685V NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1685 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGGAGAGATCCACCTGACAAA 0.463000 7 14 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47748073 47748073 + Missense_Mutation SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:47748073C>T ENST00000360380.3 - 12 1555 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K|STIL_ENST00000396221.2_Missense_Mutation_p.E398K Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 398 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCTTCATCTTCAACACCAGAG 0.408000 21 73 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76855051 76855051 + Splice_Site SNP T T G TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chrX:76855051T>G ENST00000373344.5 - 25 6001 c.e25-2 ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 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) TTCTTCTTTCTaaaaacaaac 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 90 26 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375499 101375499 + Silent SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr11:101375499C>T ENST00000344327.3 - 2 625 c.201G>A c.(199-201)cgG>cgA p.R67R TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R|TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000526713.1_5'UTR NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 67 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTGTCTGCCGCCGGTGAGCCA 0.463000 27 36 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 10 138 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42513476 42513476 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr2:42513476G>A ENST00000318522.5 + 10 1341 c.1079G>A c.(1078-1080)gGc>gAc p.G360D EML4_ENST00000401738.3_Missense_Mutation_p.G371D|EML4_ENST00000402711.2_Missense_Mutation_p.G302D NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 360 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 ATTGGACTTGGCACTTTTGAG 0.428000 T ALK NSCLC 4 114 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25299435 25299435 + RNA SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr15:25299435C>T ENST00000549804.2 + 0 98 SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA CCGTCATTCTCATCGGAACTG 0.493000 7 268 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132515 11132515 + Missense_Mutation SNP G G T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr19:11132515G>T ENST00000358026.2 + 19 3015 c.2731G>T c.(2731-2733)Ggc>Tgc p.G911C SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 911 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTGCTGACGGGCACACCGCT 0.592000 """F, N, Mis""" NSCLC 10 16 2.17888e-05 2.36045e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179458010 179458010 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr2:179458010G>A ENST00000589042.1 - 299 59149 c.58925C>T c.(58924-58926)cCt>cTt p.P19642L TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18001L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18001 Fibronectin type-III 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGAAGATCAGGAACCCTAAA 0.403000 4 115 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209969868 209969868 + Translation_Start_Site SNP C C A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:209969868C>A ENST00000542854.1 - 0 203 IRF6_ENST00000367021.3_Missense_Mutation_p.Q68H NM_001206696.1 NP_001193625.1 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CCACCCCTTCCTGGTACTTCC 0.522000 HNSCC(57;0.16) 3 36 6.4e-05 6.74595e-05 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29192788 29192788 + Missense_Mutation SNP G G A TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr17:29192788G>A ENST00000321990.4 + 11 3581 c.3203G>A c.(3202-3204)gGa>gAa p.G1068E NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1068 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAACTTATAGGAAATGAGTTA 0.299000 21 39 0 0 1 0 0 MUTYH 4595 broad.mit.edu 37 1 45796886 45796886 + Frame_Shift_Del DEL G G - TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:45796886delG ENST00000450313.1 - 14 1659 c.1444delC c.(1444-1446)acfs p.H482fs MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.H479fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 479 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GCTGCGGTGTGAAATTCCTCC 0.488 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 28 43 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103548438 103548441 + Frame_Shift_Del DEL TTCT TTCT - TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr1:103548438_103548441delTTCT ENST00000358392.2 - 2 511_514 c.194_197delAGAA c.(193-198)atfs p.KN65fs COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 65 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCTTTAGAATTCTTTCTGTTTGT 0.358 37 71 --- --- --- --- ZEB2 9839 broad.mit.edu 37 2 145187587 145187588 + Frame_Shift_Del DEL TT TT - TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr2:145187587_145187588delTT ENST00000558170.2 - 3 1263_1264 c.79_80delAA c.(79-81)cfs p.N27fs ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 27 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTGTCATAGTTCACCACTGCA 0.411 20 38 --- --- --- --- CC2D2A 57545 broad.mit.edu 37 4 15513005 15513007 + In_Frame_Del DEL GAA GAA - rs112367037 TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr4:15513005_15513007delGAA ENST00000424120.1 + 8 930_932 c.676_678delGAA c.(676-678)del p.E229del CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000513811.1_3'UTR Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 229 Poly-Glu. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGAGGAAGGGGAAGAAGAAGAAC 0.443 7 10 --- --- --- --- NKD2 85409 broad.mit.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - rs3840989 TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr5:1038447_1038449delCAC ENST00000296849.5 + 10 1544_1546 c.1315_1317delCAC c.(1315-1317)del p.H447del NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 447 His-rich. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) ccaccacgagcaccaccaccacc 0.690 2 4 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521769 32521771 + RNA DEL ATT ATT - rs77824792 by1000genomes TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr6:32521769_32521771delATT ENST00000411500.1 - 0 740 NR_001298.1 AGGTTTAGTGATTTTTATTCCAA 0.429 3 5 --- --- --- --- AC126365.1 0 broad.mit.edu 37 17 20623668 20623668 + RNA DEL T T - rs151078009 TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa4097c-34b5-440e-881b-a31f4903228e 76f195e9-0e81-4250-9926-30deb4f65346 g.chr17:20623668delT ENST00000578210.1 + 0 150 NR_073509.1 gcccggctaattttttttttt 0.572 2 4 --- --- --- ---