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 DNAH7 56171 broad.mit.edu 37 2 196765182 196765182 + Missense_Mutation SNP A A G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr2:196765182A>G ENST00000312428.6 - 28 4472 c.4372T>C c.(4372-4374)Tat>Cat p.Y1458H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1458 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCATGGCATAGTCAGGTACC 0.418000 9 137 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378309 16378309 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr1:16378309C>T ENST00000375679.4 + 14 1513 c.1402C>T c.(1402-1404)Ctg>Ttg p.L468L CLCNKB_ENST00000375667.3_Silent_p.L299L NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGGGTATGCTCTGGCAGGTGA 0.622000 30 51 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251836 25251836 + Silent SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr16:25251836G>A ENST00000328086.7 - 7 3008 c.2205C>T c.(2203-2205)gcC>gcT p.A735A NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 735 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GATGCACAACGGCTTTCCCTA 0.473000 26 50 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677486 19677486 + Missense_Mutation SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr20:19677486G>A ENST00000328041.6 + 14 1734 c.1537G>A c.(1537-1539)Ggg>Agg p.G513R NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 513 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGTCATCATGGGGATCACCTT 0.592000 14 28 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671134 131671134 + Missense_Mutation SNP A A G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr9:131671134A>G ENST00000259324.5 + 3 2214 c.1691A>G c.(1690-1692)gAt>gGt p.D564G LRRC8A_ENST00000372599.3_Missense_Mutation_p.D564G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D564G NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 564 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GTGGTCACAGATGTGGGCGTG 0.572000 11 26 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335566 124335566 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr12:124335566C>T ENST00000409039.3 + 34 5905 c.5880C>T c.(5878-5880)ccC>ccT p.P1960P NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1960 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGATCGTGCCCGACCTGCAGC 0.632000 17 42 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39634592 39634592 + Missense_Mutation SNP T T C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr8:39634592T>C ENST00000265708.4 - 11 1083 c.980A>G c.(979-981)aAc>aGc p.N327S ADAM2_ENST00000379853.2_Missense_Mutation_p.N201S|ADAM2_ENST00000347580.4_Missense_Mutation_p.N308S|ADAM2_ENST00000521880.1_Missense_Mutation_p.N327S NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 327 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTGGCATTTGTTAATGTCATC 0.338000 3 37 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 53 19 0 0 1 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146220 10146220 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr3:10146220C>T ENST00000450660.2 - 2 455 c.239G>A c.(238-240)cGc>cAc p.R80H FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R80H NM_001164839.1 NP_001158311.1 FANCD2 opposite strand GTTCATCGTGCGCAACTCTGA 0.532000 5 50 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48687284 48687284 + Missense_Mutation SNP A A C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:48687284A>C ENST00000359106.5 + 26 4747 c.4747A>C c.(4747-4749)Agc>Cgc p.S1583R CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1560R|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1590R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1560R|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1583R|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1526R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1549R|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron NM_018896.4 NP_061496.2 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1583 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CAGCTCAGCCAGCGCTGCGTC 0.587000 3 34 0 0 1 0 0 DPPA3P2 0 broad.mit.edu 37 14 36841171 36841171 + RNA SNP A A G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr14:36841171A>G ENST00000557188.1 + 0 802 CTATGCTAGTATAGACTATAC 0.323000 4 25 0 0 1 0 0 RPL7A 6130 broad.mit.edu 37 9 136216484 136216484 + Missense_Mutation SNP C C G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr9:136216484C>G ENST00000323345.6 + 3 233 c.203C>G c.(202-204)gCc>gGc p.A68G RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR NM_000972.2 NP_000963.1 P62424 RL7A_HUMAN ribosomal protein L7a 68 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) CGGCAGAGAGCCATCCTCTAT 0.552000 4 60 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1231248 1231248 + Missense_Mutation SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:1231248G>A ENST00000590083.1 - 9 1298 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W C19orf26_ENST00000215376.6_Missense_Mutation_p.R330W|C19orf26_ENST00000382477.2_Missense_Mutation_p.R356W Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 356 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCGCTGCCGCTGGAAGTGG 0.667000 HNSCC(14;0.022) 31 54 0 0 1 0 0 SUMO2 6613 broad.mit.edu 37 17 73177151 73177151 + Splice_Site SNP C C G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:73177151C>G ENST00000420826.2 - 2 302 c.e2+1 SUMO2_ENST00000578238.1_Splice_Site|SUMO2_ENST00000314523.7_Splice_Site NM_006937.3 NP_008868.3 P61956 SUMO2_HUMAN small ubiquitin-like modifier 2 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding NS(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) GAATTCCTCACCTGTCGTTCA 0.363000 15 41 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32256502 32256502 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr1:32256502C>T ENST00000360482.2 - 16 3482 c.3353G>A c.(3352-3354)cGc>cAc p.R1118H RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1105H|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R598H NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 1118 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTGGGACTGGCGCAAGCCTGG 0.667000 5 9 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671533 39671533 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr21:39671533C>T ENST00000398930.1 + 4 704 c.350C>T c.(349-351)gCg>gTg p.A117V KCNJ15_ENST00000328656.3_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 117 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTCACTGGGGCGTTTCTCTTT 0.493000 10 107 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37407129 37407129 + Missense_Mutation SNP T T G TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:37407129T>G ENST00000403892.3 - 2 1567 c.833A>C c.(832-834)gAg>gCg p.E278A TST_ENST00000249042.3_Missense_Mutation_p.E278A NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 278 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 GCGAAACCACTCGGACCAGGA 0.637000 4 75 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45153147 45153147 + Missense_Mutation SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:45153147G>A ENST00000425690.3 + 3 793 c.494G>A c.(493-495)cGc>cAc p.R165H PVR_ENST00000406449.4_Missense_Mutation_p.R165H|PVR_ENST00000403059.4_Missense_Mutation_p.R165H|PVR_ENST00000344956.4_Missense_Mutation_p.R165H|CTB-171A8.1_ENST00000590796.1_RNA NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 165 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) CCCATGGCCCGCTGCGTCTCC 0.612000 20 137 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106273 55106273 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:55106273C>T ENST00000453777.1 + 4 384 c.214C>T c.(214-216)Cgg>Tgg p.R72W LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R72W|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 72 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTGGATTACACGGATCCCACA 0.562000 47 80 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7592042 7592042 + Missense_Mutation SNP T T C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:7592042T>C ENST00000316024.5 + 1 2424 c.76T>C c.(76-78)Tct>Cct p.S26P WRAP53_ENST00000534050.1_Missense_Mutation_p.S26P|WRAP53_ENST00000457584.2_Missense_Mutation_p.S26P|WRAP53_ENST00000431639.2_Missense_Mutation_p.S26P|WRAP53_ENST00000396463.2_Missense_Mutation_p.S26P Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 26 Pro-rich. positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 AGCCCATCCTTCTCCCCACGC 0.587000 19 59 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 27 38 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21534627 21534627 + Missense_Mutation SNP G G T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chrX:21534627G>T ENST00000425654.2 + 9 1315 c.835G>T c.(835-837)Gtg>Ttg p.V279L CNKSR2_ENST00000379510.3_Missense_Mutation_p.V279L|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 279 PDZ. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GAAAAATTTGGTGAATGCACT 0.398000 23 9 5.35356e-11 5.57662e-11 1 1 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859568 31859568 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr21:31859568C>T ENST00000334055.3 - 1 187 c.100G>A c.(100-102)Gga>Aga p.G34R NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 34 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CAGCCATCTCCACAGCCTCTG 0.512000 8 146 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769203 18769203 + RNA SNP G G A rs111245818 TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:18769203G>A ENST00000412448.1 - 0 1083 AGCCAGCCGCGGCAGGGTCAG 0.637000 4 71 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38598771 38598771 + Missense_Mutation SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr3:38598771G>A ENST00000413689.1 - 24 4443 c.4250C>T c.(4249-4251)aCa>aTa p.T1417I SCN5A_ENST00000450102.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1417I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1416I|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1416I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1417 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCCTTTAAATGTTGCCTGGGA 0.498000 7 32 0 0 1 0 0 PRMT10 90826 broad.mit.edu 37 4 148594115 148594115 + Silent SNP G G T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr4:148594115G>T ENST00000322396.6 - 4 980 c.738C>A c.(736-738)ccC>ccA p.P246P PRMT10_ENST00000541232.1_Silent_p.P133P NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 246 cytoplasm binding|protein methyltransferase activity p.P246P(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 AATACCTTTCGGGAATATGTT 0.328000 29 88 2.48696e-23 2.6457e-23 1 1 0 NWD1 284434 broad.mit.edu 37 19 16860740 16860740 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:16860740C>T ENST00000524140.2 + 6 1705 c.1287C>T c.(1285-1287)ttC>ttT p.F429F NWD1_ENST00000339803.6_Silent_p.F294F|NWD1_ENST00000552788.1_Silent_p.F429F|NWD1_ENST00000549814.1_Silent_p.F429F|NWD1_ENST00000523826.1_Silent_p.F223F|NWD1_ENST00000379808.3_Silent_p.F429F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 429 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCAGAAACTTCGAGTCTCTCG 0.617000 16 131 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57185254 57185254 + Splice_Site SNP G G T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr6:57185254G>T ENST00000607273.1 + 3 241 c.e3-1 PRIM2_ENST00000389488.2_Splice_Site NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTTTTTTTTAGTGTTAAAATC 0.328000 5 14 1.23904e-05 1.26433e-05 1 1 0 ZC3H4 23211 broad.mit.edu 37 19 47575123 47575123 + Silent SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:47575123G>A ENST00000253048.5 - 13 2095 c.2058C>T c.(2056-2058)ccC>ccT p.P686P ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 686 Pro-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCGGGATAGGGGGCATCATTC 0.622000 14 27 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118239407 118239407 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr11:118239407C>T ENST00000252108.3 + 3 314 c.183C>T c.(181-183)ttC>ttT p.F61F UBE4A_ENST00000431736.2_Silent_p.F61F NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 61 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGGATGAATTCGATTACTCTG 0.433000 75 157 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067044 18067044 + Missense_Mutation SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr7:18067044G>A ENST00000506618.2 - 1 442 c.362C>T c.(361-363)gCg>gTg p.A121V NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 121 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GATATGATCCGCACCTGCTAT 0.473000 43 72 0 0 1 0 0 LRRC37A5P 0 broad.mit.edu 37 9 114371493 114371493 + RNA SNP C C T rs12351897 by1000genomes TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr9:114371493C>T ENST00000374304.1 - 0 306 CTTCTCACATCGTTGTTGGGG 0.502000 7 139 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239837 3239837 + Missense_Mutation SNP T T C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chrX:3239837T>C ENST00000217939.6 - 5 4043 c.3889A>G c.(3889-3891)Aca>Gca p.T1297A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1297 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGTGGTTGTCATGTAATCT 0.358000 4 66 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182125 57182125 + Silent SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr4:57182125G>A ENST00000504228.1 + 6 2562 c.2457G>A c.(2455-2457)tcG>tcA p.S819S KIAA1211_ENST00000541073.1_Silent_p.S812S|KIAA1211_ENST00000264229.6_Silent_p.S819S Q6ZU35 K1211_HUMAN KIAA1211 819 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TCACGACCTCGTCGGACAGCG 0.537000 23 62 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181606 3181606 + Silent SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:3181606G>A ENST00000408891.2 - 1 662 c.624C>T c.(622-624)ctC>ctT p.L208L NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 208 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CCACAGCAAAGAGCAGCAGCT 0.537000 38 59 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38270462 38270462 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:38270462C>T ENST00000412331.2 + 9 1419 c.837C>T c.(835-837)cgC>cgT p.R279R EIF3L_ENST00000381683.6_Silent_p.R231R|EIF3L_ENST00000406934.1_Silent_p.R181R NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 279 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGCTTCTCCGCCTGCACTCCC 0.552000 34 37 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 76055900 76055900 + Missense_Mutation SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr13:76055900C>T ENST00000377636.3 - 1 350 c.4G>A c.(4-6)Gag>Aag p.E2K TBC1D4_ENST00000377625.2_Missense_Mutation_p.E2K|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E2K NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 2 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CTGGGCGGCTCCATAACTCTC 0.731000 5 5 0 0 1 0 0 RASL10A 10633 broad.mit.edu 37 22 29709887 29709887 + Silent SNP G G A TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:29709887G>A ENST00000401450.3 - 2 754 c.309C>T c.(307-309)taC>taT p.Y103Y RASL10A_ENST00000216101.6_Silent_p.Y103Y|RASL10A_ENST00000474590.1_5'UTR Q92737 RSLAA_HUMAN RAS-like, family 10, member A 103 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1) 1 GGGCCTTCACGTAGTCGAAAC 0.652000 4 34 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186302356 186302358 + In_Frame_Del DEL GAG GAG - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr1:186302356_186302358delGAG ENST00000367478.3 - 37 5647_5649 c.5351_5353delCTC c.(5350-5355)cag>c p.PQ1784del NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1784 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGCTCAATCTGAGGATGACTCTG 0.443 T NTRK1 papillary thyroid 24 89 --- --- --- --- CGREF1 10669 broad.mit.edu 37 2 27324256 27324257 + Frame_Shift_Del DEL CT CT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr2:27324256_27324257delCT ENST00000402394.1 - 6 1110_1111 c.842_843delAG c.(841-843)gfs p.E281fs CGREF1_ENST00000405600.1_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000404694.3_Frame_Shift_Del_p.E403fs|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000260595.5_Frame_Shift_Del_p.E264fs|CGREF1_ENST00000452318.2_Intron NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 264 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCCTGGCCTCTGCCTGGCC 0.614 34 423 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152544001 152544004 + Frame_Shift_Del DEL CAAT CAAT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr2:152544001_152544004delCAAT ENST00000397345.3 - 27 2768_2771 c.2566_2569delATTG c.(2566-2571)gafs p.IG856fs NEB_ENST00000604864.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.IG856fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.IG856fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.IG856fs NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 856 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGAGGGCTCCAATCATTTTCCCT 0.451 15 133 --- --- --- --- IBSP 3381 broad.mit.edu 37 4 88732559 88732561 + In_Frame_Del DEL GAA GAA - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr4:88732559_88732561delGAA ENST00000226284.5 + 7 518_520 c.451_453delGAA c.(451-453)del p.E158del NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 158 Asp/Glu-rich (acidic).|Poly-Glu. biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GGAAAGTGATgaagaagaagagg 0.394 8 23 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173317571 173317574 + Frame_Shift_Del DEL AACA AACA - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr5:173317571_173317574delAACA ENST00000265085.5 + 1 2289_2292 c.835_838delAACA c.(835-840)aafs p.NK279fs CPEB4_ENST00000520867.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.NK279fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 279 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAATAATCTTAACAAACCCCCCTC 0.574 45 323 --- --- --- --- SNX16 64089 broad.mit.edu 37 8 82752142 82752144 + In_Frame_Del DEL CTT CTT - rs142163451 TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr8:82752142_82752144delCTT ENST00000396330.2 - 3 584_586 c.78_80delAAG c.(76-81)agt>ag p.RS26del SNX16_ENST00000345957.4_In_Frame_Del_p.RS26del|SNX16_ENST00000353788.4_In_Frame_Del_p.RS26del NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 26 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 AAAAGAAGAACTTCTTTGATTTC 0.389 40 153 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53876125 53876127 + In_Frame_Del DEL TCC TCC - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr12:53876125_53876127delTCC ENST00000267079.2 - 13 2391_2393 c.2166_2168delGGA c.(2164-2169)gaa>ga p.EE722del MAP3K12_ENST00000547035.1_In_Frame_Del_p.EE755del|MAP3K12_ENST00000547488.1_In_Frame_Del_p.EE755del NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 722 Glu-rich (acidic). histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TACCTCTCCTTCCTCCTCTTCCG 0.493 24 143 --- --- --- --- P2RX4 5025 broad.mit.edu 37 12 121670817 121670819 + In_Frame_Del DEL CAT CAT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr12:121670817_121670819delCAT ENST00000337233.4 + 11 1370_1372 c.1062_1064delCAT c.(1060-1065)gac>ga p.DI354del P2RX4_ENST00000359949.7_In_Frame_Del_p.DI370del|P2RX4_ENST00000543171.1_In_Frame_Del_p.DI253del NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 354 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCTGTGTGACATCATAGTCCTC 0.498 18 347 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 9 187 --- --- --- --- TRPV3 162514 broad.mit.edu 37 17 3458099 3458100 + Frame_Shift_Del DEL CT CT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:3458099_3458100delCT ENST00000301365.4 - 2 176_177 c.45_46delAG c.(43-48)agttfs p.RV15fs TRPV3_ENST00000576742.1_Frame_Shift_Del_p.RV15fs|TRPV3_ENST00000572519.1_Frame_Shift_Del_p.RV15fs Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 15 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GGGGCAGCAACTCTCTTGCCCA 0.619 7 47 --- --- --- --- HAP1 9001 broad.mit.edu 37 17 39881249 39881249 + Frame_Shift_Del DEL C C - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr17:39881249delC ENST00000393939.2 - 10 1498 c.1489delG c.(1489-1491)ctfs p.A497fs HAP1_ENST00000310778.5_Frame_Shift_Del_p.A574fs|HAP1_ENST00000347901.4_Frame_Shift_Del_p.A522fs|HAP1_ENST00000341193.5_Frame_Shift_Del_p.A505fs|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 557 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCTTCCTCAGCCGGCACCTTC 0.627 84 328 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11106926 11106928 + In_Frame_Del DEL AGA AGA - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr19:11106926_11106928delAGA ENST00000358026.2 + 10 1915_1917 c.1631_1633delAGA c.(1630-1635)cag>c p.QK544del SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 544 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTCATCGACCAGAAGAAGGACAA 0.576 """F, N, Mis""" NSCLC 52 164 --- --- --- --- KCNG1 3755 broad.mit.edu 37 20 49626525 49626527 + In_Frame_Del DEL GAA GAA - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr20:49626525_49626527delGAA ENST00000371571.4 - 2 634_636 c.349_351delTTC c.(349-351)del p.F117del RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_In_Frame_Del_p.F117del NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 117 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGTTGCGGTCGAAGAAGAACTCG 0.645 13 50 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 6 7 --- --- --- --- SMARCB1 6598 broad.mit.edu 37 22 24175836 24175837 + Frame_Shift_Del DEL CT CT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chr22:24175836_24175837delCT ENST00000344921.6 + 8 1298_1299 c.1091_1092delCT c.(1090-1092)afs p.T364fs SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 355 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CTGCTGGAGACTCTGACAGACG 0.634 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 11 123 --- --- --- --- NXF4 0 broad.mit.edu 37 X 101818628 101818630 + RNA DEL ATT ATT - TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16d72485-c192-4735-97fc-e46e71bc0209 f211dabd-dc6e-4168-a894-6a2c1eeb90f8 g.chrX:101818628_101818630delATT ENST00000360035.2 + 0 1098_1100 NR_002216.1 endometrium(2)|lung(8) 10 CCTGCCTGACATTATAGAGAAGG 0.458 13 16 --- --- --- ---