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 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 5 42 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932932 153932932 + Missense_Mutation SNP C C T rs146586677 byFrequency TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr1:153932932C>T ENST00000368623.3 - 3 1376 c.617G>A c.(616-618)cGg>cAg p.R206Q SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 206 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CTCCATGGCCCGAGCCCGGTC 0.662000 4 45 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37309323 37309323 + Missense_Mutation SNP T T C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr5:37309323T>C ENST00000231498.3 - 24 2878 c.2675A>G c.(2674-2676)gAa>gGa p.E892G NUP155_ENST00000381843.2_Missense_Mutation_p.E833G|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 892 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTTTCTTTTTCAGTCTTATT 0.343000 9 23 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470895 161470895 + Missense_Mutation SNP G G C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:161470895G>C ENST00000392142.4 + 3 1739 c.1591G>C c.(1591-1593)Gac>Cac p.D531H MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 531 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACCATTTGTAGACAAAGCACT 0.423000 13 94 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 37 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14306271 14306271 + Missense_Mutation SNP T T C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr20:14306271T>C ENST00000378053.3 - 2 2138 c.1882A>G c.(1882-1884)Agt>Ggt p.S628G MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 628 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CTGCTTTCACTGTGATTGTTT 0.413000 18 135 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328636 80328636 + Missense_Mutation SNP T T C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr4:80328636T>C ENST00000358842.3 - 1 736 c.719A>G c.(718-720)tAt>tGt p.Y240C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 240 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AATTAGGCCATAGATCTCAGA 0.423000 37 98 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418774 43418774 + Missense_Mutation SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:43418774G>A ENST00000357338.3 - 6 1355 c.655C>T c.(655-657)Cgc>Tgc p.R219C DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000372488.3_Missense_Mutation_p.R219C NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 219 EGF-like 6; calcium-binding (Potential). integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGCATGGGCGGCTGGCACAG 0.622000 5 67 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449544 91449544 + Missense_Mutation SNP T T C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr12:91449544T>C ENST00000266719.3 - 2 762 c.515A>G c.(514-516)gAc>gGc p.D172G NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 172 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GTTCTGTAGGTCAAGAAGGGT 0.413000 49 149 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116265543 116265543 + Missense_Mutation SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:116265543G>A ENST00000606080.1 - 6 1450 c.1004C>T c.(1003-1005)gCg>gTg p.A335V FRK_ENST00000538210.1_Missense_Mutation_p.A193V NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 335 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AACCTGTGCCGCCATGTCTAC 0.418000 4 65 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 78 0 0 1 0 0 CPEB2 132864 broad.mit.edu 37 4 15060817 15060817 + Missense_Mutation SNP A A T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr4:15060817A>T ENST00000538197.1 + 10 2587 c.2587A>T c.(2587-2589)Ata>Tta p.I863L CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 418 regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 ATAGGTTCAAATACGTCCTTG 0.348000 5 59 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191242 152191242 + Missense_Mutation SNP A A G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr1:152191242A>G ENST00000368801.2 - 3 2938 c.2863T>C c.(2863-2865)Tcc>Ccc p.S955P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 955 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCGTAGCTGGAGGAGTGACCT 0.542000 91 275 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 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 16 70 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70155435 70155435 + Missense_Mutation SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr4:70155435G>A ENST00000335568.5 + 4 1057 c.1055G>A c.(1054-1056)cGg>cAg p.R352Q UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 352 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTCAATACTCGGCTGTATAAG 0.363000 30 36 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39513390 39513390 + Missense_Mutation SNP C C T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:39513390C>T ENST00000287152.7 - 11 1350 c.1256G>A c.(1255-1257)cGt>cAt p.R419H KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 419 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 ATGAACTTTACGCATATCCGC 0.358000 27 65 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 6 32 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417415 70417415 + Missense_Mutation SNP T T C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr18:70417415T>C ENST00000327305.6 - 9 2080 c.1423A>G c.(1423-1425)Atc>Gtc p.I475V NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|NETO1_ENST00000299430.2_Missense_Mutation_p.I474V NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 475 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATGACAAGGATATTTCTTCTG 0.507000 13 45 0 0 1 0 0 WISP2 8839 broad.mit.edu 37 20 43348625 43348625 + Missense_Mutation SNP T T G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr20:43348625T>G ENST00000372868.2 + 3 491 c.148T>G c.(148-150)Tgt>Ggt p.C50G RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 50 IGFBP N-terminal. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GCTGGATGGCTGTGGCTGCTG 0.697000 5 15 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr3:178917478G>A ENST00000263967.3 + 3 510 c.352_splice c.e3-1 p.G118_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 13 76 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr3:178952072A>G ENST00000263967.3 + 21 3284 c.3127A>G c.(3127-3129)Atg>Gtg p.M1043V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043V(22) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 97 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 37 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231010 7231010 + Missense_Mutation SNP C C T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:7231010C>T ENST00000379938.2 + 10 3215 c.2678C>T c.(2677-2679)gCg>gTg p.A893V RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 893 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.A893V(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGTAGCTTTGCGGTGGACTTC 0.592000 5 63 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734856 37734856 + Silent SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr8:37734856G>A ENST00000330843.4 - 2 597 c.585C>T c.(583-585)agC>agT p.S195S RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 195 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AAGGTGTCGTGCTAGGGATGA 0.448000 13 163 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975038 44975038 + Silent SNP G G T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr14:44975038G>T ENST00000340446.4 - 1 1444 c.1153C>A c.(1153-1155)Cgg>Agg p.R385R NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 385 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GAGGGAGACCGAATTTCACCA 0.532000 12 137 0.00010058 0.000111513 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 25 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494669 55494669 + Missense_Mutation SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr19:55494669G>A ENST00000543010.1 + 6 1746 c.1603G>A c.(1603-1605)Gta>Ata p.V535I NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 535 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.V535I(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CATTGGGGACGTACAGAAGCT 0.557000 4 48 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635248 7635248 + Missense_Mutation SNP G G A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr12:7635248G>A ENST00000359156.4 - 14 3440 c.3238C>T c.(3238-3240)Cgg>Tgg p.R1080W CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1080 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 CCTGCAAGCCGCTGTCTCTGT 0.428000 52 113 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222475 118222475 + Missense_Mutation SNP C C A TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chrX:118222475C>A ENST00000402510.2 - 11 2717 c.2718G>T c.(2716-2718)atG>atT p.M906I NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 906 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 GCAGCTGCTGCATAAAATCAT 0.483000 3 23 1 1 1 1 0 LMLN 89782 broad.mit.edu 37 3 197751579 197751579 + Missense_Mutation SNP C C G TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr3:197751579C>G ENST00000330198.4 + 14 1598 c.1576C>G c.(1576-1578)Cta>Gta p.L526V LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 526 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TTCCGTTTGTCTAATTCAGAA 0.393000 12 91 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470985 25470985 + Missense_Mutation SNP G G C TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr2:25470985G>C ENST00000264709.3 - 7 1113 c.776C>G c.(775-777)gCt>gGt p.A259G DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 259 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCGTGGTAGCCACAGTGGG 0.647000 """Mis, F, N, S""" AML 23 54 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78420962 78420962 + Nonsense_Mutation SNP C C T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr1:78420962C>T ENST00000370767.1 - 18 1845 c.1758G>A c.(1756-1758)tgG>tgA p.W586* FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 586 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 AGTACTCTTCCCAAGCCTTGG 0.318000 """F, N""" oligodendroglioma 9 22 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51873020 51873020 + Missense_Mutation SNP C C T TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr20:51873020C>T ENST00000371497.5 + 2 3910 c.3023C>T c.(3022-3024)gCg>gTg p.A1008V TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1008 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCAAACATGCGGTAAAACTC 0.468000 19 59 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223990463 223990465 + In_Frame_Del DEL CTT CTT - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr1:223990463_223990465delCTT ENST00000391878.2 - 9 1345_1347 c.577_579delAAG c.(577-579)del p.K193del TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 316 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GTAGAGCTGCCTTCTTCTTCCAC 0.463 7 162 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178928078 178928080 + In_Frame_Del DEL AGA AGA - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr3:178928078_178928080delAGA ENST00000263967.3 + 8 1513_1515 c.1356_1358delAGA c.(1354-1359)tta>tt p.LE452del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 452 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CTCATGGATTAGAAGATTTGCTG 0.350 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 102 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589147 67589149 + In_Frame_Del DEL AAA AAA - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr5:67589147_67589149delAAA ENST00000521381.1 + 10 1751_1753 c.1135_1137delAAA c.(1135-1137)del p.K379del PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 379 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GGGAAATAACAAATTAATCAAAA 0.310 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 11 69 --- --- --- --- HIST1H2BF 8343 broad.mit.edu 37 6 26199854 26199856 + In_Frame_Del DEL AGA AGA - rs150784470 TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:26199854_26199856delAGA ENST00000359985.1 + 1 107_109 c.68_70delAGA c.(67-72)cag>c p.QK23del NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 23 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) ACCAAGGCGCAGAAGAAGGATGG 0.522 61 132 --- --- --- --- BACH2 60468 broad.mit.edu 37 6 90660233 90660235 + In_Frame_Del DEL TCC TCC - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr6:90660233_90660235delTCC ENST00000257749.4 - 7 2297_2299 c.1590_1592delGGA c.(1588-1593)gac>ga p.ED530del RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.ED530del|BACH2_ENST00000343122.3_In_Frame_Del_p.ED530del NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 530 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCGCTCCCGTCCTCCGCGTAGG 0.616 19 63 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413067 139413069 + In_Frame_Del DEL AGT AGT - TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chr9:139413067_139413069delAGT ENST00000277541.6 - 6 1148_1150 c.1073_1075delACT c.(1072-1077)tgc>t p.YC358del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 358 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGACACTCGCAGTAGAAGGAGGC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 29 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-HT-7481-01A-11D-2024-08 TCGA-HT-7481-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 932ab1b0-9a7d-4906-8474-21a1809dc45c 42f07474-90cb-4b0a-aed3-08e7ff9f7b49 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 4 7 --- --- --- ---