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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CLCNKB	1188	broad.mit.edu	37	1	16378309	16378309	+	Silent	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	uc001axw.3	+	14	1482	c.1402C>T	c.(1402-1404)CTG>TTG	p.L468L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.L468L|CLCNKB_uc001axy.3_Silent_p.L299L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	468	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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	0.008361	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256502	32256502	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:32256502C>T	uc001bts.1	-	16	3411	c.3353G>A	c.(3352-3354)CGC>CAC	p.R1118H	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btt.2_Missense_Mutation_p.R410H|SPOCD1_uc001btu.2_Missense_Mutation_p.R1105H|SPOCD1_uc001btv.2_Missense_Mutation_p.R598H	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1118					transcription, DNA-dependent					ovary(5)|breast(1)	6		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	0.000602	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	45					0	0	0.001168	0	0
UBE4A	9354	broad.mit.edu	37	11	118239407	118239407	+	Silent	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	uc001psw.2	+	3	312	c.183C>T	c.(181-183)TTC>TTT	p.F61F	UBE4A_uc001psv.2_Silent_p.F61F	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	61					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124335566	124335566	+	Silent	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	uc001uft.3	+	34	5905	c.5880C>T	c.(5878-5880)CCC>CCT	p.P1960P		NM_207437	NP_997320	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			ovary(3)|skin(2)|central_nervous_system(1)	6	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	0.004007	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055900	76055900	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	uc001vjl.1	-	1	351	c.4G>A	c.(4-6)GAG>AAG	p.E2K	TBC1D4_uc010aer.2_Missense_Mutation_p.E2K|TBC1D4_uc010aes.2_Missense_Mutation_p.E2K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	2						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731000													5	5					0	0	0.000602	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251836	25251836	+	Silent	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	uc002dod.3	-	7	2612	c.2205C>T	c.(2203-2205)GCC>GCT	p.A735A	ZKSCAN2_uc010vcl.1_Silent_p.A531A	NM_001012981	NP_001012999	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			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473000													26	50					0	0	0.003954	0	0
OR3A2	4995	broad.mit.edu	37	17	3181606	3181606	+	Silent	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	uc002fvg.2	-	1	663	c.624C>T	c.(622-624)CTC>CTT	p.L208L		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537000													38	59					0	0	0.004878	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	T	T	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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	0.014410	0	0
WRAP53	55135	broad.mit.edu	37	17	7592042	7592042	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	uc010vuh.1	+	2	231	c.76T>C	c.(76-78)TCT>CCT	p.S26P	WRAP53_uc010vui.1_Missense_Mutation_p.S26P|WRAP53_uc002gip.2_Missense_Mutation_p.S26P|WRAP53_uc002gir.2_Missense_Mutation_p.S26P|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.S26P|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	26	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						AGCCCATCCTTCTCCCCACGC	0.587000													19	59					0	0	0.008871	0	0
CACNA1G	8913	broad.mit.edu	37	17	48687284	48687284	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:48687284A>C	uc002irk.1	+	26	5119	c.4747A>C	c.(4747-4749)AGC>CGC	p.S1583R	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.S1560R|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1583R|CACNA1G_uc002irq.1_Missense_Mutation_p.S1560R|CACNA1G_uc002irr.1_Missense_Mutation_p.S1583R|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.S1560R|CACNA1G_uc002iru.1_Intron|CACNA1G_uc002irx.1_Missense_Mutation_p.S1496R|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Missense_Mutation_p.S1496R|CACNA1G_uc002isa.1_Missense_Mutation_p.S1462R|CACNA1G_uc002isb.1_Missense_Mutation_p.S1503R|CACNA1G_uc002isc.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Missense_Mutation_p.S1439R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1583	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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	0.004672	0	0
SUMO2	6613	broad.mit.edu	37	17	73177151	73177151	+	Splice_Site	SNP	C	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	uc002jne.2	-	2	322	c.153_splice	c.e2+1	p.Q51_splice	SUMO2_uc002jnf.2_Splice_Site_p.Q51_splice	NM_006937	NP_008868	P61956	SUMO2_HUMAN	SMT3 suppressor of mif two 3 homolog 2 isoform a						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding				0	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363000													15	41					0	0	0.004990	0	0
C19orf26	255057	broad.mit.edu	37	19	1231248	1231248	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	uc002lrm.2	-	9	1263	c.988C>T	c.(988-990)CGG>TGG	p.R330W		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	356						integral to membrane					0		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	0.003271	0	0
NWD1	284434	broad.mit.edu	37	19	16860740	16860740	+	Silent	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	uc002neu.3	+	6	1709	c.1287C>T	c.(1285-1287)TTC>TTT	p.F429F	NWD1_uc002net.3_Silent_p.F294F|NWD1_uc002nev.3_Silent_p.F223F			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	429	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GCAGAAACTTCGAGTCTCTCG	0.617000													16	131					0	0	0.004007	0	0
PVR	5817	broad.mit.edu	37	19	45153147	45153147	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	uc002ozm.2	+	3	793	c.494G>A	c.(493-495)CGC>CAC	p.R165H	PVR_uc010ejs.2_Missense_Mutation_p.R165H|PVR_uc010xxb.1_Missense_Mutation_p.R165H|PVR_uc010xxc.1_Missense_Mutation_p.R165H|PVR_uc002ozn.2_Missense_Mutation_p.R110H	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	165	Extracellular (Potential).|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				0	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	0.014323	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575123	47575123	+	Silent	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	uc002pga.3	-	13	2096	c.2058C>T	c.(2056-2058)CCC>CCT	p.P686P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	686	Pro-rich.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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	0.003163	0	0
LILRA1	11024	broad.mit.edu	37	19	55106273	55106273	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	uc002qgh.1	+	4	396	c.214C>T	c.(214-216)CGG>TGG	p.R72W	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.R72W	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	72	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562000													47	80					0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196765182	196765182	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	uc002utj.3	-	28	4473	c.4372T>C	c.(4372-4374)TAT>CAT	p.Y1458H		NM_018897	NP_061720	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			skin(10)|ovary(2)	12						ATCATGGCATAGTCAGGTACC	0.378000													9	137					0	0	0.010729	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				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	0.004656	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677486	19677486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	uc002wrl.2	+	14	1734	c.1537G>A	c.(1537-1539)GGG>AGG	p.G513R		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	513	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CGTCATCATGGGGATCACCTT	0.557000													14	28					0	0	0.003163	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859568	31859568	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	uc011acy.1	-	1	100	c.100G>A	c.(100-102)GGA>AGA	p.G34R		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	34						intermediate filament					0						CAGCCATCTCCACAGCCTCTG	0.512000													8	146					0	0	0.003080	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	uc002ywv.2	+	4	652	c.350C>T	c.(349-351)GCG>GTG	p.A117V	KCNJ15_uc002yww.2_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A117V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	117					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CTCACTGGGGCGTTTCTCTTT	0.493000													10	107					0	0	0.008291	0	0
RASL10A	10633	broad.mit.edu	37	22	29709887	29709887	+	Silent	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	uc003aff.2	-	2	822	c.309C>T	c.(307-309)TAC>TAT	p.Y103Y	RASL10A_uc003afg.2_Silent_p.Y103Y	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	103	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						GGGCCTTCACGTAGTCGAAAC	0.652000													4	34					0	0	0.000602	0	0
TST	7263	broad.mit.edu	37	22	37407129	37407129	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:37407129T>G	uc003aqg.2	-	2	1533	c.833A>C	c.(832-834)GAG>GCG	p.E278A	TST_uc003aqh.2_Missense_Mutation_p.E278A	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	278	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						GCGAAACCACTCGGACCAGGA	0.637000													4	75					0	0	0.000602	0	0
EIF3L	51386	broad.mit.edu	37	22	38270462	38270462	+	Silent	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	uc003auf.2	+	9	924	c.837C>T	c.(835-837)CGC>CGT	p.R279R	EIF3L_uc003aue.1_Silent_p.R279R|EIF3L_uc011ann.1_Silent_p.R231R|EIF3L_uc003aug.2_Silent_p.R171R|EIF3L_uc003auh.2_Silent_p.R12R	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						GGCTTCTCCGCCTGCACTCCC	0.552000													34	37					0	0	0.010818	0	0
C3orf24	115795	broad.mit.edu	37	3	10146220	10146220	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:10146220C>T	uc003buz.2	-	2	464	c.239G>A	c.(238-240)CGC>CAC	p.R80H	C3orf24_uc003bva.1_Missense_Mutation_p.R80H	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	80											0				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GTTCATCGTGCGCAACTCTGA	0.532000													5	50					0	0	0.001168	0	0
SCN5A	6331	broad.mit.edu	37	3	38598771	38598771	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	uc003cio.2	-	24	4444	c.4250C>T	c.(4249-4251)ACA>ATA	p.T1417I	SCN5A_uc003cin.2_Missense_Mutation_p.T1416I|SCN5A_uc003cil.3_Missense_Mutation_p.T1417I|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Missense_Mutation_p.T1416I|SCN5A_uc011ayr.1_Missense_Mutation_p.T1363I|SCN5A_uc010hhj.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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	0.003080	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182125	57182125	+	Silent	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	uc003hbk.2	+	8	2848	c.2457G>A	c.(2455-2457)TCG>TCA	p.S819S	KIAA1211_uc010iha.2_Silent_p.S812S|KIAA1211_uc011bzz.1_Silent_p.S729S|KIAA1211_uc003hbm.1_Silent_p.S705S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	819										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537000													23	62					0	0	0.002780	0	0
PRMT10	90826	broad.mit.edu	37	4	148594115	148594115	+	Silent	SNP	G	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	uc003ilc.2	-	4	880	c.738C>A	c.(736-738)CCC>CCA	p.P246P	PRMT10_uc003ild.2_Silent_p.P133P	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	246						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						AATACCTTTCGGGAATATGTT	0.328000													29	88					2.48696e-23	2.65275e-23	0.003271	1	0
PRIM2	5558	broad.mit.edu	37	6	57185254	57185254	+	Splice_Site	SNP	G	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr6:57185254G>T	uc003pdx.2	+	3	242	c.155_splice	c.e3-1	p.L52_splice	PRIM2_uc003pdv.1_Splice_Site_p.L52_splice|PRIM2_uc003pdw.2_Splice_Site_p.L52_splice	NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2						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				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTTTTTAGTGTTAAAATC	0.328000													5	14					1.23904e-05	1.2654e-05	0.000602	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067044	18067044	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	uc003stz.2	-	1	443	c.362C>T	c.(361-363)GCG>GTG	p.A121V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473000													43	72					0	0	0.010771	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671134	131671134	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	uc004bwl.3	+	3	1945	c.1691A>G	c.(1690-1692)GAT>GGT	p.D564G	LRRC8A_uc010myp.2_Missense_Mutation_p.D564G|LRRC8A_uc010myq.2_Missense_Mutation_p.D564G	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	564	LRR 8.				pre-B cell differentiation	integral to membrane					0						GTGGTCACAGATGTGGGCGTG	0.572000													11	26					0	0	0.010729	0	0
RPL7A	6130	broad.mit.edu	37	9	136216484	136216484	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:136216484C>G	uc004cde.1	+	3	233	c.203C>G	c.(202-204)GCC>GGC	p.A68G	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	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				0				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	0.009096	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	Silent	SNP	A	G	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:141070969A>G	uc004com.2	+	4	633	c.372A>G	c.(370-372)GCA>GCG	p.A124A	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TAGAAAACGCAGATGAGACCT	0.517000													8	32					0	0	0.010729	0	0
MXRA5	25878	broad.mit.edu	37	X	3239837	3239837	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:3239837T>C	uc004crg.3	-	5	4046	c.3889A>G	c.(3889-3891)ACA>GCA	p.T1297A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1297						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTGGTTGTCATGTAATCT	0.358000													4	66					0	0	0.009096	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534627	21534627	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	uc004czx.1	+	9	871	c.835G>T	c.(835-837)GTG>TTG	p.V279L	CNKSR2_uc004czw.2_Missense_Mutation_p.V279L|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.V279L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	279	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						GAAAAATTTGGTGAATGCACT	0.398000													23	9					5.35356e-11	5.58632e-11	0.002780	1	0
TPR	7175	broad.mit.edu	37	1	186302356	186302358	+	In_Frame_Del	DEL	GAG	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	uc001grv.2	-	37	5648_5650	c.5351_5353delCTC	c.(5350-5355)CCTCAG>CAG	p.P1784del		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53876125	53876127	+	In_Frame_Del	DEL	TCC	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:53876125_53876127delTCC	uc001sdm.1	-	13	2264_2266	c.2166_2168delGGA	c.(2164-2169)GAGGAA>GAA	p.722_723EE>E	MAP3K12_uc001sdn.1_In_Frame_Del_p.755_756EE>E	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	722_723	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			lung(2)|ovary(1)|breast(1)|skin(1)	5						TACCTCTCCTTCCTCCTCTTCCG	0.493													24	143	---	---	---	---					
P2RX4	5025	broad.mit.edu	37	12	121670817	121670819	+	In_Frame_Del	DEL	CAT	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:121670817_121670819delCAT	uc001tzr.2	+	11	1366_1368	c.1062_1064delCAT	c.(1060-1065)GACATC>GAC	p.I356del	P2RX4_uc009zxc.2_In_Frame_Del_p.I329del|P2RX4_uc001tzs.2_In_Frame_Del_p.I372del|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_In_Frame_Del_p.I255del	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	356	Helical; Name=2; (Potential).				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				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGTGTGACATCATAGTCCTC	0.498													18	347	---	---	---	---					
SFRS8	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:132281734_132281736delAGA	uc001uja.1	+	16	2686_2688	c.2546_2548delAGA	c.(2545-2550)GAGAAG>GAG	p.K853del	SFRS8_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	853	Poly-Lys.|Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGTCCCCACGAGAAGAAGAAGAA	0.493													9	187	---	---	---	---					
TRPV3	162514	broad.mit.edu	37	17	3458099	3458100	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3458099_3458100delCT	uc002fvt.1	-	2	367_368	c.45_46delAG	c.(43-48)AGAGTTfs	p.R15fs	TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Frame_Shift_Del_p.R15fs|TRPV3_uc002fvu.2_Frame_Shift_Del_p.R15fs	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	15_16	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GGGGCAGCAACTCTCTTGCCCA	0.619													7	47	---	---	---	---					
HAP1	9001	broad.mit.edu	37	17	39881249	39881249	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	uc002hxm.1	-	12	1732	c.1720delG	c.(1720-1722)GCTfs	p.A574fs	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.A522fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.A505fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.A497fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	574	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		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	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	uc002mqf.3	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)CAGAAG>CAG	p.K546del	SMARCA4_uc010dxp.2_In_Frame_Del_p.K546del|SMARCA4_uc010dxo.2_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.2_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.2_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.2_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	546					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				52	164	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152544001	152544004	+	Frame_Shift_Del	DEL	CAAT	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:152544001_152544004delCAAT	uc010fnx.2	-	27	2757_2760	c.2566_2569delATTG	c.(2566-2571)ATTGGAfs	p.I856fs		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	856_857					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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGGGCTCCAATCATTTTCCCT	0.451													15	133	---	---	---	---					
KCNG1	3755	broad.mit.edu	37	20	49626525	49626527	+	In_Frame_Del	DEL	GAA	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	uc002xwa.3	-	2	644_646	c.349_351delTTC	c.(349-351)TTCdel	p.F117del	KCNG1_uc002xwb.2_In_Frame_Del_p.F117del	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	117	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGTTGCGGTCGAAGAAGAACTCG	0.645													13	50	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:24175836_24175837delCT	uc002zyb.2	+	8	1271_1272	c.1064_1065delCT	c.(1063-1065)ACTfs	p.T355fs	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Frame_Shift_Del_p.T346fs|SMARCB1_uc002zyd.2_Frame_Shift_Del_p.T364fs	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	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)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				11	123	---	---	---	---					
IBSP	3381	broad.mit.edu	37	4	88732559	88732561	+	In_Frame_Del	DEL	GAA	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:88732559_88732561delGAA	uc003hqx.3	+	7	549_551	c.451_453delGAA	c.(451-453)GAAdel	p.E158del		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	158	Poly-Glu.|Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAAAGTGATgaagaagaagagg	0.276													8	23	---	---	---	---					
CPEB4	80315	broad.mit.edu	37	5	173317571	173317574	+	Frame_Shift_Del	DEL	AACA	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr5:173317571_173317574delAACA	uc003mcs.3	+	1	2241_2244	c.835_838delAACA	c.(835-840)AACAAAfs	p.N279fs	CPEB4_uc010jju.1_Frame_Shift_Del_p.N279fs|CPEB4_uc010jjv.2_Frame_Shift_Del_p.N279fs|CPEB4_uc011dfg.1_Frame_Shift_Del_p.N279fs|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	279_280							nucleotide binding|RNA binding				0	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	-	-	rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	uc011lft.1	-	3	585_587	c.78_80delAAG	c.(76-81)AGAAGT>AGT	p.R26del	SNX16_uc003ycn.2_In_Frame_Del_p.R26del|SNX16_uc003yco.2_In_Frame_Del_p.R26del	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	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			ovary(1)|pancreas(1)	2						AAAAGAAGAACTTCTTTGATTTC	0.389													40	153	---	---	---	---					
NXF4	55999	broad.mit.edu	37	X	101818628	101818630	+	RNA	DEL	ATT	-	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:101818628_101818630delATT	uc004ejf.1	+	8		c.1098_1100delATT				NR_002216				Homo sapiens cDNA FLJ42710 fis, clone BRAMY3007609, moderately similar to Homo sapiens nuclear RNA export factor 2 (NXF2).												0						CCTGCCTGACATTATAGAGAAGG	0.458													13	16	---	---	---	---					
