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
DCHS1	8642	broad.mit.edu	37	11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	uc001mem.1	-	7	4092	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1231	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552000													18	150					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62857909	62857909	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	uc004dvl.2	-	9	2389	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_uc011mos.1_Silent_p.*496*|ARHGEF9_uc004dvk.1_Silent_p.*335*|ARHGEF9_uc004dvm.1_Silent_p.*496*|ARHGEF9_uc004dvj.2_Silent_p.*415*|ARHGEF9_uc011mot.2_Silent_p.*464*	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403000													6	1					0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52646173	52646173	+	Silent	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:52646173A>G	uc010snr.1	-	6	963	c.615T>C	c.(613-615)ggT>ggC	p.G205G	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TCTGCAGGGCACCCTCCAGCT	0.642000													5	128					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	uc002ehb.3	+	1	1620	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_uc002egy.3_Missense_Mutation_p.P486T|CHD9_uc002egz.1_Missense_Mutation_p.P486T|CHD9_uc002ehc.3_Missense_Mutation_p.P486T|CHD9_uc002ehd.2_Missense_Mutation_p.P12T	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	486					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348000													5	14					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860705	21860705	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	uc001war.2	-	32	6797	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	CHD8_uc001was.2_Silent_p.R1965R|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2244					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517000													13	194					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51480876	51480876	+	Silent	SNP	G	G	A	rs17855561		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:51480876G>A	uc002puo.3	-	5	780	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_uc002pup.3_Silent_p.C226C|KLK7_uc021uyj.1_Silent_p.C219C|KLK7_uc010eok.3_Silent_p.C154C	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	226	Peptidase S1.			C -> W (in Ref. 6; AAH32005).	epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.C226C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517000													3	58					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													8	15					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:72176033G>A	uc001xms.3	+	14	4284	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1308	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537000													3	117					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50790907	50790907	+	Silent	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	uc001zym.4	+	19	3653	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	USP8_uc001zyl.4_Silent_p.Y1051Y|USP8_uc001zyn.4_Silent_p.Y1051Y|USP8_uc010ufh.2_Silent_p.Y945Y|USP8_uc001zyp.4_Silent_p.Y218Y	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	1051					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328000													15	41					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61487640	61487640	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:61487640G>A	uc001nsa.3	+	1	129	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	5					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCCGGGATCGTGGTGTTCCG	0.622000													3	84					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	rs138556118		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:74968164G>A	uc001xqa.3	-	34	5687	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1767	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CATGTGGGCCGCATCCAGCTG	0.617000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	245					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110944514	110944514	+	Silent	SNP	A	A	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	uc003puh.1	-	8	985	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_uc003pui.1_Silent_p.P244P|CDK19_uc011eax.1_Silent_p.P180P	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458000													3	123					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71351091	71351091	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	uc010nlh.2	-	0	300	c.300G>A	c.(298-300)tcG>tcA	p.S100S	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Silent_p.S100S|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657000													9	5					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107609	46107609	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:46107609G>A	uc003oxy.3	+	1	548	c.289G>A	c.(289-291)Gtc>Atc	p.V97I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	97						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTATGATGCAGTCACAAAGAA	0.388000													3	96					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	uc011cbx.2	+	7	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*	SHROOM3_uc003hkg.3_Nonsense_Mutation_p.Q1438*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1660					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488000													5	64					0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	6	26637597	26637597	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:26637597C>T	uc021ynx.1	-	4	1906	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	ZNF322_uc003nij.3_5'Flank|ZNF322_uc003nil.4_Silent_p.A395A|ZNF322_uc021yny.1_Silent_p.A395A|ZNF322_uc021ynz.1_Silent_p.A395A|ZNF322_uc021yoa.1_Silent_p.A395A	NM_001242797	NP_001229726	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										AGGCTTCTGACGCATGGGGAG	0.408000													4	131					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42807322	42807322	+	Missense_Mutation	SNP	G	G	A	rs140298749	byFrequency	TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:42807322G>A	uc002ihf.3	+	3	488	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DBF4B_uc002ihd.2_Missense_Mutation_p.R92H|DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.3_5'UTR|DBF4B_uc010wjc.2_Missense_Mutation_p.R92H|DBF4B_uc002ihg.3_Missense_Mutation_p.R76H	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	92	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGTCCAGCCGCAGAGAAGTA	0.488000													3	77					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	uc001wso.3	+	3	556	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_uc010tpp.2_Missense_Mutation_p.L20V|SRP54_uc010tpq.2_Missense_Mutation_p.L5V	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	69	G-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	p.L69V(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353000													9	30					0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:109675832T>A	uc003hzc.3	-	4	626	c.445A>T	c.(445-447)Att>Ttt	p.I149F	AGXT2L1_uc010imc.3_Missense_Mutation_p.I143F|AGXT2L1_uc011cfm.2_Missense_Mutation_p.I109F|AGXT2L1_uc011cfn.2_Missense_Mutation_p.I76F|AGXT2L1_uc011cfo.2_Missense_Mutation_p.I91F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	149					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TATGGGCTAATCTCAATTAAG	0.313000													19	40					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:155254735C>G	uc022cip.1	+	5	835	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587000													4	7					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	uc010rku.2	+	0	595	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537000													8	116					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	uc002ewf.2	+	3	1502	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_uc010vli.1_Missense_Mutation_p.F69L	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	124	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507000													34	96					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	uc001bgn.3	-	0	770	c.260T>C	c.(259-261)gTt>gCt	p.V87A		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532000													45	145					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	uc002gpo.3	-	36	5850	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Missense_Mutation_p.S381G|NCOR1_uc010vwb.2_Missense_Mutation_p.S445G|NCOR1_uc010coy.3_Missense_Mutation_p.S769G|NCOR1_uc010vwc.2_Missense_Mutation_p.S671G	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1861	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGTTCACTAACTGCTGCT	0.483000													43	97					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499776	66499776	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr9:66499776G>A	uc004aee.1	+	0	586	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GGTGGCCATCGTGGTGCTGTG	0.592000													6	167					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37650913	37650913	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:37650913T>G	uc010cvv.3	+	4	2971	c.2385T>G	c.(2383-2385)gaT>gaG	p.D795E	CDK12_uc010wef.1_Missense_Mutation_p.D794E|CDK12_uc002hrw.4_Missense_Mutation_p.D795E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	795	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ttgtcacagataaacaagatg	0.378000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			5	2					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	uc001ybc.4	+	6	1434	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_uc001ybd.4_Nonsense_Mutation_p.R241*	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701000													6	10					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	uc001ild.4	+	5	1211	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	371					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448000													5	91					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105967581	105967581	+	Splice_Site	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:105967581G>A	uc001kxw.3	-	6	852	c.736_splice	c.e6-1	p.P246_splice	WDR96_uc001kxx.4_Splice_Site_p.P246_splice|WDR96_uc001kxy.1_Splice_Site_p.P246_splice|WDR96_uc001kxz.3_Splice_Site_p.P246_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	246										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCATCTTTCGGCTTCAGGGA	0.398000													25	59					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507893	219507893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:219507893C>A	uc002vin.3	-	7	3782	c.3346G>T	c.(3346-3348)Gaa>Taa	p.E1116*	ZNF142_uc002vil.3_Nonsense_Mutation_p.E1077*|ZNF142_uc010fvt.3_Nonsense_Mutation_p.E953*|ZNF142_uc002vim.3_Nonsense_Mutation_p.E953*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGCCCGTTCCTGCTGGCAG	0.602000													5	67					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	uc001lhv.1	-	3	1335	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_uc001lhu.1_Missense_Mutation_p.C271S|FAM53B_uc001lhw.3_Missense_Mutation_p.C271S	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577000													3	7					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867855	45867855	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr20:45867855G>A	uc010zxy.1	-	14	2415	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	ZMYND8_uc010ghq.1_Missense_Mutation_p.T428M|ZMYND8_uc010ghr.1_Missense_Mutation_p.T726M|ZMYND8_uc002xst.1_Missense_Mutation_p.T679M|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.T679M|ZMYND8_uc002xsw.1_Missense_Mutation_p.T503M|ZMYND8_uc002xsx.1_Missense_Mutation_p.T503M|ZMYND8_uc002xsy.1_Missense_Mutation_p.T726M|ZMYND8_uc002xsz.1_Missense_Mutation_p.T688M|ZMYND8_uc002xta.1_Missense_Mutation_p.T751M|ZMYND8_uc002xtb.1_Missense_Mutation_p.T771M|ZMYND8_uc002xss.2_Missense_Mutation_p.T751M|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.T771M|ZMYND8_uc002xtd.1_Missense_Mutation_p.T746M|ZMYND8_uc002xte.1_Missense_Mutation_p.T751M|ZMYND8_uc010zya.1_Missense_Mutation_p.T751M|ZMYND8_uc002xtf.1_Missense_Mutation_p.T771M|ZMYND8_uc002xtg.3_Missense_Mutation_p.T745M|ZMYND8_uc010ghs.2_Missense_Mutation_p.T745M|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	751							protein binding|zinc ion binding	p.P778P(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGCCCACCGTCGTGGATGG	0.572000													5	170					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105618060	105618060	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	uc001yqg.3	-	7	1460	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.T352T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	352	EGF-like 4.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682000													3	34					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56628745	56628745	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	uc010sqj.2	+	5	866	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_uc010sqi.2_Silent_p.P94P|SLC39A5_uc010sqk.2_Silent_p.P203P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	203					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627000													46	102					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96320951	96320951	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr9:96320951C>T	uc004atw.3	+	14	2782	c.2757C>T	c.(2755-2757)tgC>tgT	p.C919C	FAM120A_uc004aty.3_Silent_p.C700C|FAM120A_uc004atz.3_Silent_p.C568C|FAM120A_uc010mrg.3_Intron	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	919	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGGACACTGCGGAGCCTTCT	0.622000													17	41					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:13711709G>T	uc003nbb.3	-	0	88	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													3	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:179440352A>C	uc021vsy.1	-	274	63028	c.62803T>G	c.(62803-62805)Tgt>Ggt	p.C20935G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21862	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438000													7	78					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	uc003nnw.2	+	4	845	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.A195T|HLA-G_uc003raj.3_Missense_Mutation_p.A228T|HLA-G_uc003nnz.3_Missense_Mutation_p.A131T|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582000													9	192					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822329	103822329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:103822329C>T	uc003hww.3	-	11	1635	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.R271H	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498						integral to membrane	solute:hydrogen antiporter activity										ATCATAATGGCGTGTAAGCAT	0.378000													5	202					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38296498	38296498	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:38296498C>T	uc001wuj.3	+	11	1517	c.1415C>T	c.(1414-1416)aCt>aTt	p.T472I	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.T375I|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GATGCAATTACTCTAAACCCC	0.403000													68	103					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22260091	22260091	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:22260091C>T	uc002dki.3	+	3	848	c.363C>T	c.(361-363)acC>acT	p.T121T	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	121	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACGCCGTCACCGGGGAATGGC	0.572000													10	89					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	uc003fjt.3	+	7	1017	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	MFN1_uc003fjs.3_Missense_Mutation_p.G309V|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Missense_Mutation_p.G162V	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	309					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.F337F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333000													3	51					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90442141	90442141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:90442141C>T	uc001xxy.3	+	6	1072	c.773C>T	c.(772-774)gCg>gTg	p.A258V	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.A258V|TDP1_uc010atn.3_Missense_Mutation_p.A258V|TDP1_uc001xya.3_Intron|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	258					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTGGATATTGCGTTTGGAACA	0.373000								Repair of DNA-protein crosslinks					35	72					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106497794	106497794	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	uc002tdg.3	+	3	513	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Silent_p.K79K	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	79					T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672000													10	28					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690079	17690079	+	Silent	SNP	C	C	T	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	uc001baj.2	+	15	1849	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	607					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612000													16	20					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	uc001tzg.3	+	4	1037	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.G338G|HNF1A_uc001tzf.3_Silent_p.G338G|HNF1A_uc010szn.2_Silent_p.G338G|HNF1A_uc021rfa.1_Silent_p.G338G|HNF1A_uc021rfb.1_Silent_p.G210G|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622000									Hepatic Adenoma, Familial Clustering of				18	171					0	0	1	0	0
LINC00478	388815	broad.mit.edu	37	21	17443441	17443441	+	RNA	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:17443441T>C	uc002ykb.2	+	1		c.35T>C			LINC00478_uc010glc.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 478 (LINC00478), transcript variant 1, non-coding RNA.																		TAGATGGATCTGAGAACGCTG	0.463000													40	130					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337707	220337707	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:220337707G>A	uc010fwg.3	+	15	4036	c.4036G>A	c.(4036-4038)Gcc>Acc	p.A1346T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1346	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGGTGGGCAGCCACAGGGCT	0.662000													3	58					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830799	830799	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:830799T>G	uc002cjz.1	-	2	202	c.202A>C	c.(202-204)Acc>Ccc	p.T68P		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592000													6	173					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344590	53344590	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:53344590C>G	uc002qaf.3	-	3	1108	c.957G>C	c.(955-957)agG>agC	p.R319S	ZNF468_uc002qae.3_Missense_Mutation_p.R266S|ZNF468_uc021uzb.1_Missense_Mutation_p.R266S	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGTATGAATCCTCTTATGTC	0.373000													52	28					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57674173	57674173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:57674173G>A	uc009zpm.1	-	11	1305	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Nonsense_Mutation_p.Q85*|R3HDM2_uc001snr.2_Nonsense_Mutation_p.Q151*|R3HDM2_uc001sns.2_Nonsense_Mutation_p.Q424*|R3HDM2_uc001snt.2_Nonsense_Mutation_p.Q438*	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	424	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AAGGGTGGCTGTTGCTGAGGC	0.542000													4	258					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	42					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	uc002ipg.3	-	4	696	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_uc010dbk.3_Missense_Mutation_p.F133L|SPOP_uc002ipb.3_Missense_Mutation_p.F133L|SPOP_uc002ipc.3_Missense_Mutation_p.F133L|SPOP_uc002ipd.3_Missense_Mutation_p.F133L|SPOP_uc002ipe.3_Missense_Mutation_p.F133L|SPOP_uc002ipf.3_Missense_Mutation_p.F133L	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(14)|p.F133V(4)|p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448000										Prostate(2;0.17)			54	91					0	0	1	0	0
