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 GIGYF1 64599 broad.mit.edu 37 7 100280314 100280314 + Silent SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr7:100280314G>A ENST00000275732.5 - 20 3708 c.2499C>T c.(2497-2499)ggC>ggT p.G833G NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 833 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CGCTGCTGCCGCCCCCACTCT 0.697000 5 16 0 0 0.00198382 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976601 47976601 + Missense_Mutation SNP A A T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr6:47976601A>T ENST00000543600.1 - 2 664 c.625T>A c.(625-627)Ttt>Att p.F209I PTCHD4_ENST00000339488.4_Missense_Mutation_p.F226I Q6ZW05 CF138_HUMAN patched domain containing 4 226 integral to membrane hedgehog receptor activity GTCTTATGAAAGTCCCTCCAG 0.527000 18 35 0 0 0.00074312 0 0 MMP1 4312 broad.mit.edu 37 11 102666337 102666337 + Splice_Site SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:102666337C>T ENST00000315274.6 - 5 694 c.625_splice c.e5-1 p.E209_splice WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 209 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GTAAGTTGTACTCTAAAAAGG 0.368000 11 29 0 0 0.000673444 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 27 3 0 0 0.00127121 0 0 SLC6A11 6538 broad.mit.edu 37 3 10885932 10885932 + Missense_Mutation SNP G G C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr3:10885932G>C ENST00000254488.2 + 5 723 c.657G>C c.(655-657)gaG>gaC p.E219D NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 219 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACGGGATCGAGCACATCGGGA 0.587000 3 41 0 0 0.00024832 0 0 FAM78A 286336 broad.mit.edu 37 9 134136482 134136482 + Silent SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr9:134136482C>T ENST00000372271.3 - 2 946 c.579G>A c.(577-579)ctG>ctA p.L193L FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 193 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TGGTGGCCACCAGCCAGGTGG 0.617000 27 44 0 0 0.00127121 0 0 RP11-162P23.2 0 broad.mit.edu 37 12 112193513 112193513 + Missense_Mutation SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr12:112193513G>A ENST00000546840.2 + 2 68 c.68G>A c.(67-69)cGt>cAt p.R23H ACAD10_ENST00000455480.2_Silent_p.P1032P|ACAD10_ENST00000313698.4_Silent_p.P1001P TGGTCGCCCCGTCCATGGCCT 0.517000 16 112 0 0 0.00074312 0 0 KIAA1009 22832 broad.mit.edu 37 6 84896105 84896105 + Missense_Mutation SNP C C A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr6:84896105C>A ENST00000403245.3 - 12 1460 c.1346G>T c.(1345-1347)aGg>aTg p.R449M KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 449 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TATTTTTTTCCTCAAAATATT 0.308000 24 56 9.95505e-16 3.13339e-15 0.00229938 1 0 RPS4Y2 140032 broad.mit.edu 37 Y 22930744 22930744 + Missense_Mutation SNP C C A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chrY:22930744C>A ENST00000288666.5 + 5 414 c.414C>A c.(412-414)caC>caA p.H138Q NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 138 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 GAATTCCACACCTGGTGACTC 0.438000 22 25 2.89027e-11 8.80844e-11 0.00229938 1 0 SCAND3 114821 broad.mit.edu 37 6 28540794 28540794 + Missense_Mutation SNP A A G TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr6:28540794A>G ENST00000452236.2 - 4 3489 c.2872T>C c.(2872-2874)Tgt>Cgt p.C958R NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 958 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tccaaaccacatttgttaaca 0.353000 9 45 0 0 0.000274275 0 0 OR5D16 390144 broad.mit.edu 37 11 55606760 55606760 + Missense_Mutation SNP A A G TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:55606760A>G ENST00000378396.1 + 1 533 c.533A>G c.(532-534)cAt>cGt p.H178R NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ACAATCAATCATTTCTTCTGT 0.423000 5 52 0 0 0.000602214 0 0 GPR39 2863 broad.mit.edu 37 2 133175296 133175296 + Silent SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr2:133175296C>T ENST00000329321.3 + 1 1150 c.681C>T c.(679-681)gcC>gcT p.A227A NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 227 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTTCGGCGCCTTCGTGGTCT 0.612000 30 46 0 0 0.001512 0 0 ELMOD3 84173 broad.mit.edu 37 2 85617291 85617291 + Silent SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr2:85617291C>T ENST00000315658.7 + 11 1105 c.846C>T c.(844-846)ccC>ccT p.P282P ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 282 ELMO. phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 AGGTCATCCCCGTGGTGAACA 0.567000 23 40 0 0 0.000720815 0 0 MAN2B2 23324 broad.mit.edu 37 4 6612960 6612960 + Silent SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr4:6612960C>T ENST00000285599.3 + 15 2554 c.2518C>T c.(2518-2520)Ctg>Ttg p.L840L MAN2B2_ENST00000504248.1_Silent_p.L789L NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 840 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GAGGAGCGCACTGGCGCTGCA 0.627000 15 21 0 0 0.00316338 0 0 PALD1 27143 broad.mit.edu 37 10 72307126 72307126 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr10:72307126C>T ENST00000263563.6 + 18 2454 c.2186C>T c.(2185-2187)gCg>gTg p.A729V NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GTGGACGCAGCGCTGGACACT 0.617000 29 53 0 0 0.00127121 0 0 ZNF259 8882 broad.mit.edu 37 11 116656309 116656309 + Missense_Mutation SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:116656309T>C ENST00000227322.3 - 6 685 c.626A>G c.(625-627)cAt>cGt p.H209R NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 209 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) CTGAGGAGCATGTGGGTTTTC 0.458000 6 97 0 0 0.00116845 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17961457 17961457 + Missense_Mutation SNP G G C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:17961457G>C ENST00000361221.3 + 18 2032 c.1873G>C c.(1873-1875)Gtg>Ctg p.V625L ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 625 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CAAGGACAATGTGCTCATCCA 0.642000 3 43 0 0 0.00024832 0 0 GPX2 2877 broad.mit.edu 37 14 65406296 65406296 + Silent SNP C C T rs17885748 TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr14:65406296C>T ENST00000389614.5 - 2 569 c.483G>A c.(481-483)ccG>ccA p.P161P CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 161 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) GCTCTCCCTCCGGCCCTATGA 0.537000 22 103 0 0 0.00229938 0 0 KIF2B 84643 broad.mit.edu 37 17 51900882 51900882 + Missense_Mutation SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr17:51900882G>A ENST00000268919.4 + 1 644 c.488G>A c.(487-489)cGc>cAc p.R163H NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 163 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGGGAAAAGCGCAGGCGGCTG 0.547000 8 85 0 0 0.000442599 0 0 FRY 10129 broad.mit.edu 37 13 32852686 32852686 + Splice_Site SNP G G C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr13:32852686G>C ENST00000380250.3 + 58 8965 c.e58+1 FRY_ENST00000542859.1_Splice_Site NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CGAAGAAAAGGTAATAAAAGC 0.443000 16 95 0 0 0.000566183 0 0 CDK14 5218 broad.mit.edu 37 7 90613505 90613505 + Silent SNP T T A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr7:90613505T>A ENST00000406263.1 + 9 1294 c.852T>A c.(850-852)gcT>gcA p.A284A CDK14_ENST00000380050.3_Silent_p.A330A|CDK14_ENST00000436577.2_Silent_p.A201A|CDK14_ENST00000265741.3_Silent_p.A312A O94921 CDK14_HUMAN cyclin-dependent kinase 14 330 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AAGGAGTTGCTGCTTTTCCAG 0.348000 38 100 0 0 0.00148497 0 0 CCDC108 255101 broad.mit.edu 37 2 219868814 219868814 + Silent SNP C C T rs73089095 byFrequency TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr2:219868814C>T ENST00000341552.5 - 33 5498 c.5415G>A c.(5413-5415)aaG>aaA p.K1805K CCDC108_ENST00000453220.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.K1805K NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1805 Glu-rich. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTTctcttccttctcatccc 0.557000 5 121 0 0 0.000602214 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 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 19 53 0 0 0.00229938 0 0 OR2M7 391196 broad.mit.edu 37 1 248487368 248487368 + Missense_Mutation SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:248487368T>C ENST00000317965.2 - 1 531 c.503A>G c.(502-504)tAc>tGc p.Y168C NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGACCCACAGTAGGAGAAGGA 0.448000 108 174 0 0 0.00361006 0 0 MYO18A 399687 broad.mit.edu 37 17 27430667 27430667 + Missense_Mutation SNP G G C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr17:27430667G>C ENST00000527372.1 - 21 3637 c.3457C>G c.(3457-3459)Ctg>Gtg p.L1153V MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1153 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AAGCACTCCAGCAGCTCCTCC 0.667000 3 44 0 0 6.4e-05 0 0 TANK 10010 broad.mit.edu 37 2 162087893 162087893 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr2:162087893C>T ENST00000392749.2 + 7 1171 c.932C>T c.(931-933)cCc>cTc p.P311L TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.P311L|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|AC009299.2_ENST00000421122.2_RNA NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 311 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 AAAACAAAGCCCTCAAATCTC 0.383000 9 106 0 0 0.000673444 0 0 HSDL1 83693 broad.mit.edu 37 16 84163854 84163854 + Missense_Mutation SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr16:84163854G>A ENST00000219439.4 - 4 579 c.403C>T c.(403-405)Cca>Tca p.P135S HSDL1_ENST00000434463.3_Intron NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 135 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 TCTCGAATTGGAAGGTAGATC 0.473000 16 141 0 0 0.00400662 0 0 AC005609.1 0 broad.mit.edu 37 5 140242897 140242897 + Missense_Mutation SNP T T G rs116577362 by1000genomes TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr5:140242897T>G ENST00000502505.1 - 1 327 c.79A>C c.(79-81)Acc>Ccc p.T27P PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA14_ENST00000562220.1_RNA ATCTGCGTGGTGTCCAGCCTG 0.647000 4 63 0 0 0.000602214 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716801 13716801 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr12:13716801C>T ENST00000279593.3 - 13 3580 c.3371G>A c.(3370-3372)aGg>aAg p.R1124K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1124 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCCTTGTCCCTGAAGTAGCG 0.617000 20 25 0 0 0.00152264 0 0 NELL1 4745 broad.mit.edu 37 11 21135210 21135210 + Missense_Mutation SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:21135210G>A ENST00000298925.5 + 14 1613 c.1460G>A c.(1459-1461)cGc>cAc p.R487H NELL1_ENST00000357134.5_Missense_Mutation_p.R459H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000325319.5_Missense_Mutation_p.R402H Q92832 NELL1_HUMAN NEL-like 1 (chicken) 459 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGGTTATATCGCTGTGACTGT 0.398000 6 99 0 0 0.00116845 0 0 S1PR1 1901 broad.mit.edu 37 1 101705575 101705575 + Silent SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:101705575C>T ENST00000305352.6 + 2 1410 c.1035C>T c.(1033-1035)atC>atT p.I345I NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 345 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GACCCATCATCGCCGGCATGG 0.557000 7 154 0 0 0.00198382 0 0 AL645608.1 0 broad.mit.edu 37 1 861308 861308 + Missense_Mutation SNP G G C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:861308G>C ENST00000598827.1 - 6 291 c.292C>G c.(292-294)Ctt>Gtt p.L98V SAMD11_ENST00000342066.3_5'UTR GCAGGGAAAAGTCTGAAGACG 0.662000 11 49 0 0 0.000978159 0 0 APRT 353 broad.mit.edu 37 16 88876924 88876924 + Silent SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr16:88876924G>A ENST00000378364.3 - 3 272 c.228C>T c.(226-228)gcC>gcT p.A76A APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase 76 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CAAGCTCCTGGGCCAGGGAGG 0.637000 3 22 0 0 6.4e-05 0 0 FRMD7 90167 broad.mit.edu 37 X 131214037 131214037 + Silent SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chrX:131214037T>C ENST00000298542.4 - 11 1222 c.1047A>G c.(1045-1047)aaA>aaG p.K349K FRMD7_ENST00000464296.1_Silent_p.K334K|FRMD7_ENST00000370879.1_Silent_p.K229K NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 349 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) ACCTTACTTGTTTTGACACAT 0.398000 78 27 0 0 0.00361006 0 0 XKR9 389668 broad.mit.edu 37 8 71646066 71646066 + Missense_Mutation SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr8:71646066T>C ENST00000408926.3 + 5 1063 c.529T>C c.(529-531)Tgg>Cgg p.W177R XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 177 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGCTATTTCTTGGTCAACTGT 0.299000 5 47 0 0 0.00116845 0 0 COL25A1 84570 broad.mit.edu 37 4 109805344 109805344 + Missense_Mutation SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr4:109805344G>A ENST00000399132.1 - 19 1540 c.1010C>T c.(1009-1011)cCg>cTg p.P337L COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 337 Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTTTATCCCCGGAAGTCCAGG 0.413000 21 43 0 0 0.00278032 0 0 KLKB1 3818 broad.mit.edu 37 4 187158067 187158067 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr4:187158067C>T ENST00000264690.6 + 5 648 c.461C>T c.(460-462)aCg>aTg p.T154M KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 154 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TCATATGCCACGCAAACATTT 0.408000 5 58 0 0 0.00198382 0 0 LAMP2 0 broad.mit.edu 37 X 119573053 119573053 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chrX:119573053C>T ENST00000371335.4 - 9 1325 c.1189G>A c.(1189-1191)Gta>Ata p.V397I LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 397 platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane p.V397I(1) endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 CTGCCAATTACGTAAGCAATC 0.383000 5 57 0 0 0.000602214 0 0 KRT84 3890 broad.mit.edu 37 12 52777394 52777394 + Silent SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr12:52777394G>A ENST00000257951.3 - 2 801 c.735C>T c.(733-735)gtC>gtT p.V245V RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 245 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCTCTAGGACATCCTGCA 0.577000 15 17 0 0 0.00074312 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 86 0 0 0.000602214 0 0 SDAD1P1 0 broad.mit.edu 37 8 26237249 26237249 + RNA SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr8:26237249G>A ENST00000519902.1 - 0 2699 GGGATTTCCCGGGGACAGCGT 0.458000 6 43 0 0 0.00116845 0 0 RAB27A 5873 broad.mit.edu 37 15 55497820 55497820 + Missense_Mutation SNP C C T rs141362723 by1000genomes TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr15:55497820C>T ENST00000396307.2 - 6 802 c.551G>A c.(550-552)cGa>cAa p.R184Q RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 184 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) CCGTTCCATTCGCTTCATTAT 0.463000 63 77 0 0 0.00361006 0 0 ADAM21 8747 broad.mit.edu 37 14 70924812 70924812 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr14:70924812C>T ENST00000603540.1 + 2 854 c.596C>T c.(595-597)tCt>tTt p.S199F RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 199 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAACCAAAATCTGCTGGTGAC 0.448000 4 104 0 0 0.000602214 0 0 PHF23 79142 broad.mit.edu 37 17 7139547 7139547 + Silent SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr17:7139547T>C ENST00000320316.3 - 4 925 c.699A>G c.(697-699)ccA>ccG p.P233P PHF23_ENST00000576955.1_Silent_p.P103P|PHF23_ENST00000571362.1_Silent_p.P166P|PHF23_ENST00000454255.2_Silent_p.P229P NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 233 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GCCCAGGAGGTGGGAGTCTAT 0.552000 39 76 0 0 0.0025221 0 0 OR4A15 81328 broad.mit.edu 37 11 55136122 55136122 + Missense_Mutation SNP A A T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:55136122A>T ENST00000314706.3 + 1 763 c.763A>T c.(763-765)Act>Tct p.T255S NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CTCTCTTAAGACTCAGAGTTT 0.438000 62 74 0 0 0.00361006 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 42 0 0 0.00024832 0 0 CDH17 1015 broad.mit.edu 37 8 95182644 95182644 + Silent SNP G G A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr8:95182644G>A ENST00000027335.3 - 9 1171 c.1047C>T c.(1045-1047)gtC>gtT p.V349V CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 349 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATTCTCCTGGACCTCAAATA 0.438000 60 86 0 0 0.00361006 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 44 0 0 6.4e-05 0 0 SLIT2 9353 broad.mit.edu 37 4 20598163 20598163 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr4:20598163C>T ENST00000504154.1 + 32 3698 c.3446C>T c.(3445-3447)cCt>cTt p.P1149L SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1149 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CAGTGTTTGCCTGGCTATCAG 0.433000 4 66 0 0 0.00024832 0 0 NPAS4 266743 broad.mit.edu 37 11 66192121 66192121 + Missense_Mutation SNP C C T rs142965018 byFrequency TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr11:66192121C>T ENST00000311034.2 + 7 1936 c.1760C>T c.(1759-1761)aCg>aTg p.T587M NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 587 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGGGACTGCACGCTCTTGGCC 0.607000 15 173 0 0 0.00316338 0 0 CEACAM4 1089 broad.mit.edu 37 19 42128032 42128032 + Missense_Mutation SNP C C A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr19:42128032C>A ENST00000221954.2 - 3 644 c.534G>T c.(532-534)agG>agT p.R178S CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 178 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 ACCTTCCAGTCCTGGAGAGAA 0.652000 7 27 0.00307968 0.0090969 0.00307968 1 0 RUNX1T1 862 broad.mit.edu 37 8 93026829 93026829 + Missense_Mutation SNP C C T TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr8:93026829C>T ENST00000523629.1 - 4 900 c.446G>A c.(445-447)cGc>cAc p.R149H RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 149 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R160H(1)|p.R112H(1)|p.R149H(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) AACGAGGGTGCGAACTCTTTC 0.507000 12 83 0 0 0.00136819 0 0 OR2M5 127059 broad.mit.edu 37 1 248308952 248308952 + Missense_Mutation SNP A A G TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:248308952A>G ENST00000366476.1 + 1 503 c.503A>G c.(502-504)tAc>tGc p.Y168C NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TCCTTCTCCTACTGTGGGTCT 0.443000 12 318 0 0 0.00185496 0 0 USH2A 7399 broad.mit.edu 37 1 215914869 215914869 + Silent SNP T T C TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:215914869T>C ENST00000366943.2 - 60 11945 c.11559A>G c.(11557-11559)ggA>ggG p.G3853G USH2A_ENST00000307340.3_Silent_p.G3853G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3853 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTGCTAACTCCACAACTTC 0.358000 HNSCC(13;0.011) 7 63 0 0 0.000442599 0 0 ARID1A 8289 broad.mit.edu 37 1 27057848 27057848 + Frame_Shift_Del DEL C C - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:27057848delC ENST00000324856.7 + 3 1927 c.1556delC c.(1555-1557)tcfs p.S519fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 519 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCCATACTCCCAGCAGCCA 0.632 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 25 245 --- --- --- --- ASPM 259266 broad.mit.edu 37 1 197070598 197070599 + Frame_Shift_Del DEL TC TC - rs144088344 by1000genomes TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr1:197070598_197070599delTC ENST00000367409.4 - 18 8038_8039 c.7782_7783delGA c.(7780-7785)caaafs p.QK2594fs ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2594 mitosis cytoplasm|nucleus calmodulin binding p.Q2594Q(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TGAAATACTTTCTGTTTCTTTT 0.356 12 33 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - AA rs71401156 TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr2:217475031_217475032insAA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 5 5 --- --- --- --- AMOTL2 51421 broad.mit.edu 37 3 134078153 134078155 + In_Frame_Del DEL TGT TGT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr3:134078153_134078155delTGT ENST00000514516.1 - 8 2426_2428 c.2248_2250delACA c.(2248-2250)del p.T750del AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|AMOTL2_ENST00000422605.2_In_Frame_Del_p.T692del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 692 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGGCGTCTGCTGTTTGTCGCTCA 0.596 21 67 --- --- --- --- TNIP1 10318 broad.mit.edu 37 5 150425452 150425454 + In_Frame_Del DEL CTT CTT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr5:150425452_150425454delCTT ENST00000389378.2 - 9 1492_1494 c.904_906delAAG c.(904-906)del p.K302del TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 302 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCATCTTCACCTTCTTCTCGGCT 0.601 14 96 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896099 84896100 + Frame_Shift_Ins INS - - A TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr6:84896099_84896100insA ENST00000403245.3 - 12 1465_1466 c.1351_1352insT c.(1351-1353)aatfs p.N451fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.N375fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 451 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AACAGTTATTTTTTTCCTCAAA 0.307 19 54 --- --- --- --- CYP3A7 1551 broad.mit.edu 37 7 99312223 99312224 + Frame_Shift_Del DEL TT TT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr7:99312223_99312224delTT ENST00000336374.2 - 8 754_755 c.752_753delAA c.(751-753)afs p.K251fs NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 251 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GTTTTACAGATTTTGTTAGAAA 0.312 19 90 --- --- --- --- RMDN1 51115 broad.mit.edu 37 8 87498754 87498755 + Frame_Shift_Del DEL TT TT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr8:87498754_87498755delTT ENST00000406452.3 - 4 612_613 c.453_454delAA c.(451-456)aagafs p.KR151fs RMDN1_ENST00000430676.2_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000519966.1_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000523911.1_Frame_Shift_Del_p.KR107fs|CPNE3_ENST00000198765.4_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TCTAGTGCTCTTTTTGCATACT 0.396 7 60 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6013101 6013102 + Frame_Shift_Del DEL AG AG - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr9:6013101_6013102delAG ENST00000259569.5 - 1 2516_2517 c.2506_2507delCT c.(2506-2508)gfs p.L836fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 836 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CTCATCTTGCAGAGACATCTCA 0.337 24 99 --- --- --- --- UHRF2 115426 broad.mit.edu 37 9 6497275 6497278 + Frame_Shift_Del DEL CAGT CAGT - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr9:6497275_6497278delCAGT ENST00000276893.5 + 11 1850_1853 c.1682_1685delCAGT c.(1681-1686)ccfs p.PV561fs UHRF2_ENST00000485617.2_3'UTR NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 561 Methyl-CpG binding and interaction with HDAC1.|YDG. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) GCTGGTAAGCCAGTCAGAGTGATA 0.426 16 43 --- --- --- --- BTBD1 53339 broad.mit.edu 37 15 83718894 83718895 + Frame_Shift_Del DEL AA AA - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr15:83718894_83718895delAA ENST00000261721.4 - 3 796_797 c.594_595delTT c.(592-597)ctgtfs p.LC198fs RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Frame_Shift_Del_p.LC198fs NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 198 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) GTATCTAGACAAAGACTAGCAA 0.312 9 51 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 5 8 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 9 70 --- --- --- --- AKAP8 10270 broad.mit.edu 37 19 15471767 15471769 + In_Frame_Del DEL GAA GAA - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr19:15471767_15471769delGAA ENST00000269701.2 - 12 1477_1479 c.1417_1419delTTC c.(1417-1419)del p.F473del NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 473 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CGATCTTCTTGAAGAAGTGCTCC 0.571 10 21 --- --- --- --- LENG9 94059 broad.mit.edu 37 19 54973460 54973461 + Frame_Shift_Del DEL TG TG - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr19:54973460_54973461delTG ENST00000333834.4 - 1 1433_1434 c.1315_1316delCA c.(1315-1317)gfs p.Q439fs NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 439 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CCCTGGAGACTGTAGTGTACTC 0.644 44 54 --- --- --- --- EPB41L1 2036 broad.mit.edu 37 20 34761743 34761745 + In_Frame_Del DEL AGG AGG - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr20:34761743_34761745delAGG ENST00000338074.2 + 2 205_207 c.44_46delAGG c.(43-48)cag>c p.QE15del EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_In_Frame_Del_p.QE15del|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Intron NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 15 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAGAAAGCTCAGGAGGAGGCCCC 0.626 7 38 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 5 3 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41088882 41088884 + In_Frame_Del DEL AAG AAG - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chrX:41088882_41088884delAAG ENST00000324545.7 + 43 7914_7916 c.7281_7283delAAG c.(7279-7284)gaa>ga p.ER2427del USP9X_ENST00000378308.2_In_Frame_Del_p.ER2427del NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2427 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATGAACTTGAAAGAAGACCATAT 0.404 15 35 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76918976 76918977 + Frame_Shift_Del DEL TA TA - TCGA-HW-7490-01A-11D-2024-08 TCGA-HW-7490-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68843d-1087-4efa-b5f8-0acd8982fb3b 855988d0-f042-466d-86a8-1ac1cb1bc7a1 g.chrX:76918976_76918977delTA ENST00000373344.5 - 12 4228_4229 c.4014_4015delTA c.(4012-4017)caggfs p.HR1338fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1338 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) CGCAAAAGCCTATGTCTGTATC 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 21 5 --- --- --- ---