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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GPR55	9290	broad.mit.edu	37	2	231775289	231775289	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:231775289C>T	uc021vxz.1	-	0	389	c.389G>A	c.(388-390)aGc>aAc	p.S130N	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.S130N|GPR55_uc010fxs.1_Missense_Mutation_p.S130N	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	130					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCGGAGGTGGCTCACCAGTAG	0.557000														57			7		0	0	0.001984	0	0
PDIA6	10130	broad.mit.edu	37	2	10927529	10927529	+	Silent	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:10927529A>T	uc002rau.3	-	10	1173	c.1035T>A	c.(1033-1035)ctT>ctA	p.L345L	PDIA6_uc010yjg.2_Silent_p.L342L|PDIA6_uc002rav.3_Silent_p.L397L|PDIA6_uc010yjh.2_Silent_p.L350L|PDIA6_uc002raw.3_Silent_p.L393L	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	345					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACGCGGTCTCAAGTTCAGACT	0.488000														55			6		0	0	0.003080	0	0
DIP2C	22982	broad.mit.edu	37	10	390986	390986	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr10:390986G>A	uc001ifp.3	-	26	3386	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	DIP2C_uc009xhi.1_Missense_Mutation_p.A485V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1099						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCCGCCGCCGCCTCCCTGGA	0.602000														24			6		0	0	0.001984	0	0
GRM4	2914	broad.mit.edu	37	6	34059742	34059742	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr6:34059742C>T	uc003oir.4	-	1	1017	c.654G>A	c.(652-654)tgG>tgA	p.W218*	GRM4_uc011dsn.2_Nonsense_Mutation_p.W218*|GRM4_uc010jvh.3_Nonsense_Mutation_p.W218*|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Nonsense_Mutation_p.W137*|GRM4_uc011dsl.2_Nonsense_Mutation_p.W78*|GRM4_uc003oiq.3_Nonsense_Mutation_p.W85*|GRM4_uc011dsm.2_Nonsense_Mutation_p.W49*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	218					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACACATAGTTCCACTTGAGGG	0.617000														43			14		0	0	0.002450	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	A	A	rs121913273		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				52			19		0	0	0.010504	0	0
GRM2	2912	broad.mit.edu	37	3	51749233	51749233	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr3:51749233A>C	uc010hlv.3	+	3	1683	c.1444A>C	c.(1444-1446)Acc>Ccc	p.T482P	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	482					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GACTCTGGACACCAGCCTCAT	0.627000														28			6		0	0	0.001984	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596700	58596700	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:58596700G>A	uc010yht.1	-	6	1083	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	ZSCAN18_uc002qrj.3_Silent_p.A294A|ZSCAN18_uc010yhs.1_Silent_p.A159A|ZSCAN18_uc002qrh.2_Silent_p.A295A|ZSCAN18_uc002qri.2_Silent_p.A295A|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	295					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCGGGGGCGGCCTCCTCGC	0.741000														20			4		0	0	0.009096	0	0
TPPP3	51673	broad.mit.edu	37	16	67424233	67424233	+	Silent	SNP	C	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr16:67424233C>G	uc002etb.3	-	3	520	c.375G>C	c.(373-375)ctG>ctC	p.L125L	TPPP3_uc002esz.3_Silent_p.L125L|TPPP3_uc002eta.3_Silent_p.L125L	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	125					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TGGTGTCCGTCAGCCGGTCTA	0.617000														202			6		0	0	0.001984	0	0
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:63720697A>G	uc003tsx.3	+	2	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378000														159			4		0	0	0.009096	0	0
BSDC1	55108	broad.mit.edu	37	1	32842099	32842099	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:32842099T>G	uc001bvi.3	-	8	1018	c.971A>C	c.(970-972)cAa>cCa	p.Q324P	BSDC1_uc001bvh.4_Missense_Mutation_p.Q307P|BSDC1_uc010ohg.2_Missense_Mutation_p.Q324P|BSDC1_uc010ohh.2_Missense_Mutation_p.Q251P|BSDC1_uc010ohi.2_Missense_Mutation_p.Q212P|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.Q203P			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	307							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TAGCAGCTTTTGGGACAGGTC	0.597000														165			3		0	0	0.004672	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889093	116889093	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr10:116889093A>C	uc001lcg.3	+	4	1011	c.625A>C	c.(625-627)Aat>Cat	p.N209H	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.N209H	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	209	CUB.|EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTACAGAATCAATTCTTGTCC	0.303000														26			7		0	0	0.001984	0	0
NINL	22981	broad.mit.edu	37	20	25469912	25469912	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:25469912C>A	uc002wux.1	-	12	1719	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	NINL_uc010gdn.1_Missense_Mutation_p.A549S|NINL_uc010gdo.1_Missense_Mutation_p.A332S	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	549					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCAGGACTGCTGCGAACCGC	0.617000														113			22		7.41877e-09	1.09515e-08	0.012319	1	0
NINL	22981	broad.mit.edu	37	20	25469911	25469911	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:25469911G>T	uc002wux.1	-	12	1720	c.1646C>A	c.(1645-1647)gCa>gAa	p.A549E	NINL_uc010gdn.1_Missense_Mutation_p.A549E|NINL_uc010gdo.1_Missense_Mutation_p.A332E	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	549					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTTCAGGACTGCTGCGAACCG	0.617000														114			22		5.26018e-13	7.89027e-13	0.012319	1	0
TP53TG5	27296	broad.mit.edu	37	20	44005872	44005872	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:44005872C>G	uc002xny.3	-	2	315	c.234G>C	c.(232-234)aaG>aaC	p.K78N	DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	78					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCGGAGAATCTTTGGAACAC	0.512000														149			8		0	0	0.003080	0	0
Y00482	0	broad.mit.edu	37	7	38389256	38389256	+	Silent	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:38389256T>C	uc022aca.1	-	1	233	c.54A>G	c.(52-54)aaA>aaG	p.K18K	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		AGTTGGAAGATTTCTGACTGG	0.428000														80			29		0	0	0.007291	0	0
MYO5C	55930	broad.mit.edu	37	15	52504078	52504078	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr15:52504078A>G	uc010bff.3	-	34	4307	c.4145T>C	c.(4144-4146)tTg>tCg	p.L1382S	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1382						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACGGGGCTTCAAGTCTGAAGC	0.537000														81			3		0	0	0.004672	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000														102			3		0	0	0.004672	0	0
ATF7	11016	broad.mit.edu	37	12	53910964	53910964	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr12:53910964G>A	uc001sdy.3	-	10	1463	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.S470L|ATF7_uc010sol.2_Missense_Mutation_p.S449L|AK027179_uc001sdx.3_Non-coding_Transcript	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	481	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S481S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GATTACATGCGATTGTATCGG	0.587000														120			30		0	0	0.010818	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780346	100780346	+	Silent	SNP	G	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:100780346G>C	uc003uxt.3	+	7	1300	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	SERPINE1_uc011kkj.2_Silent_p.V369V|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	384					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCTCTTTGTGGTCCGGCACA	0.552000														139			23		0	0	0.002780	0	0
PCF11	51585	broad.mit.edu	37	11	82877713	82877713	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:82877713A>G	uc001ozx.4	+	4	2119	c.1774A>G	c.(1774-1776)Aag>Gag	p.K592E	PCF11_uc010rsu.1_Missense_Mutation_p.K592E	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	592					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAAAGTTCCAAGTCTGCCAA	0.368000														107			26		0	0	0.004656	0	0
CAPN5	726	broad.mit.edu	37	11	76825445	76825445	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:76825445C>T	uc009yup.3	+	5	969	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	CAPN5_uc001oxx.3_Missense_Mutation_p.H222Y|CAPN5_uc009yuq.3_Missense_Mutation_p.H258Y|CAPN5_uc001oxy.3_Missense_Mutation_p.H262Y	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	222	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTTAAAGGTGCACAGCCGGGG	0.592000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		255			18		0	0	0.007413	0	0
GFPT2	9945	broad.mit.edu	37	5	179751868	179751868	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr5:179751868G>A	uc003mlw.1	-	7	722	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	208	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATTTGCTCCGGACTCCGATGA	0.542000														114			24		0	0	0.006320	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573732	140573732	+	Missense_Mutation	SNP	G	A	A	rs17844579		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr5:140573732G>A	uc003lix.3	+	0	1781	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCC	0.682000														190			5		0	0	0.000602	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														7			3		0	0	0.001168	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795602	9795602	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:9795602C>T	uc001aqh.3	-	12	2565	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	CLSTN1_uc001aqi.3_Missense_Mutation_p.M592I|CLSTN1_uc010oag.2_Missense_Mutation_p.M583I|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	602					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGATGTGCTGCATGGCCTTAT	0.527000														128			31		0	0	0.008361	0	0
RDM1	201299	broad.mit.edu	37	17	34257138	34257138	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:34257138G>A	uc002hkh.3	-	1	267	c.218C>T	c.(217-219)gCc>gTc	p.A73V	RDM1_uc010cty.3_Non-coding_Transcript|RDM1_uc010ctz.3_Missense_Mutation_p.A50V|RDM1_uc010cua.3_Missense_Mutation_p.A50V|RDM1_uc002hkg.4_Missense_Mutation_p.A50V|RDM1_uc010cub.3_Non-coding_Transcript|RDM1_uc010cuf.3_Non-coding_Transcript|RDM1_uc010cue.3_Intron|RDM1_uc010cug.3_Non-coding_Transcript|RDM1_uc010cuc.3_Missense_Mutation_p.A73V|RDM1_uc010cud.3_Missense_Mutation_p.A73V|RDM1_uc010wco.2_Missense_Mutation_p.A50V|RDM1_uc010wcp.2_Missense_Mutation_p.A50V|RDM1_uc002hki.3_Missense_Mutation_p.A73V	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	73	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.				DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTCTGTGGGCAGCCCTTGC	0.493000								Other identified genes with known or suspected DNA repair function						289			20		0	0	0.007413	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														46			10		0	0	0.008291	0	0
GCH1	2643	broad.mit.edu	37	14	55310765	55310765	+	Silent	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr14:55310765C>T	uc001xbh.1	-	5	884	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GCH1_uc010aol.1_Intron|GCH1_uc001xbi.1_Silent_p.R241R|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 2, mRNA.	241			R -> W (in DYT5).		GTP catabolic process|dopamine biosynthetic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						GGAACTCTTCCCGAGTCTTTG	0.493000														110			21		0	0	0.010504	0	0
STAT1	6772	broad.mit.edu	37	2	191859893	191859893	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:191859893A>T	uc010fse.2	-	8	1270	c.838T>A	c.(838-840)Ttg>Atg	p.L280M	STAT1_uc021vue.1_Missense_Mutation_p.L92M|STAT1_uc002usj.2_Missense_Mutation_p.L280M|STAT1_uc002usk.2_Missense_Mutation_p.L280M|STAT1_uc002usl.2_Missense_Mutation_p.L282M|STAT1_uc010fsf.1_Missense_Mutation_p.L92M	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	280					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AATTCCTCCAACTTTTTAAGC	0.448000														61			30		0	0	0.009535	0	0
WNT10A	80326	broad.mit.edu	37	2	219754883	219754883	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:219754883G>A	uc002vjd.1	+	2	1017	c.554G>A	c.(553-555)gGt>gAt	p.G185D		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	185					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCGTGGTAAGGGCCTG	0.672000														46			11		0	0	0.010729	0	0
MLX	6945	broad.mit.edu	37	17	40720856	40720856	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:40720856T>C	uc002iag.3	+	4	397	c.332_splice	c.e4-1	p.D111_splice	MLX_uc002iaf.3_Splice_Site_p.D57_splice|MLX_uc002iah.3_Splice_Site_p.D27_splice	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.	111	Helix-loop-helix motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGAGCGTAGATGATGAGGACA	0.607000														15			5		0	0	0.000602	0	0
SRRM1	10250	broad.mit.edu	37	1	24993373	24993373	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:24993373C>T	uc001bjm.3	+	12	1920	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	SRRM1_uc010oel.2_Missense_Mutation_p.P578S|SRRM1_uc009vrh.1_Missense_Mutation_p.P539S|SRRM1_uc009vri.1_Missense_Mutation_p.P495S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCCGCCCCTCCTCCTCGACG	0.537000														40			8		0	0	0.003080	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100016757	100016757	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:100016757T>C	uc003uut.3	-	4	586	c.338A>G	c.(337-339)cAg>cGg	p.Q113R	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.Q112R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.Q112R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.Q112R|ZCWPW1_uc011kju.1_Missense_Mutation_p.Q112R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	113							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGGGACTTCTGCAGAACAAT	0.438000														116			78		0	0	0.014410	0	0
SLC26A5	375611	broad.mit.edu	37	7	103017286	103017286	+	Silent	SNP	G	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:103017286G>T	uc003vbz.3	-	18	2272	c.2010C>A	c.(2008-2010)gtC>gtA	p.V670V	SLC26A5_uc003vbt.2_Silent_p.V670V|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.V638V	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	670	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATATATACCGACGTCTCCAT	0.308000														126			7		0.000157383	0.000225179	0.003080	1	0
HSDL2	84263	broad.mit.edu	37	9	115181173	115181173	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr9:115181173A>G	uc004bga.2	+	5	788	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	HSDL2_uc004bgc.2_Missense_Mutation_p.Y105C|HSDL2_uc004bgb.2_Missense_Mutation_p.M29V|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Missense_Mutation_p.Y57C	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	178						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGTCTATGTATGTGCTTGGA	0.274000														63			4		0	0	0.000602	0	0
ACTA1	58	broad.mit.edu	37	1	229568083	229568083	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:229568083C>T	uc001htm.3	-	3	655	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	184			G -> D (in NEM3; mild).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGATCGCGGCCCGCCAGGTCC	0.677000														51			13		0	0	0.013537	0	0
MYH2	4620	broad.mit.edu	37	17	10426831	10426831	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:10426831G>A	uc010coi.3	-	36	5582	c.5454C>T	c.(5452-5454)atC>atT	p.I1818I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1818I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1818					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAGTTTCTGGATCTGCTTCT	0.507000														118			69		0	0	0.014410	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558339	56558339	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr12:56558339T>C	uc001skb.3	-	26	3422	c.3316A>G	c.(3316-3318)Atc>Gtc	p.I1106V	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1106	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTAATACTGATGGAGTCAGCT	0.587000														69			33		0	0	0.004289	0	0
DHDH	27294	broad.mit.edu	37	19	49447704	49447704	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:49447704T>G	uc002ple.1	+	5	875	c.835T>G	c.(835-837)Ttt>Gtt	p.F279V		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	279					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGACTGCAATTTTGACAACGG	0.622000														66			20		0	0	0.012319	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261478	57261478	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:57261478T>A	uc001nkk.3	-	7	977	c.859A>T	c.(859-861)Aac>Tac	p.N287Y	SLC43A1_uc001nkl.3_Missense_Mutation_p.N287Y	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	287					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCAGGAAGGTTTTCTGAGGTG	0.567000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			9		0	0	0.010729	0	0
CRIP3	401262	broad.mit.edu	37	6	43275462	43275462	+	Silent	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr6:43275462T>C	uc010jyn.2	-	3	216	c.216A>G	c.(214-216)gtA>gtG	p.V72V	CRIP3_uc003ouu.1_Silent_p.V72V	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	72						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTAGGAGCCTACACCACCAA	0.627000														66			15		0	0	0.002450	0	0
BTG2	7832	broad.mit.edu	37	1	203276560	203276560	+	Silent	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:203276560C>T	uc001gzq.3	+	1	542	c.471C>T	c.(469-471)tcC>tcT	p.S157S	LOC730227_uc009xao.2_5'Flank|LOC730227_uc001gzp.2_5'Flank	NM_006763	NP_006754	P78543	BTG2_HUMAN	Homo sapiens BTG family, member 2 (BTG2), mRNA.	157					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TGGCAGTCTCCAGCTAGGCCC	0.632000														54			4		0	0	0.009096	0	0
BTBD6	90135	broad.mit.edu	37	14	105716270	105716270	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr14:105716270C>T	uc010tyq.2	+	4	827	c.719C>T	c.(718-720)gCc>gTc	p.A240V	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	240						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		ACTCGGGAGGCCCTCAACACC	0.617000														29			5		0	0	0.001168	0	0
POGZ	23126	broad.mit.edu	37	1	151378756	151378756	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:151378756G>A	uc001eyd.2	-	18	3070	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	POGZ_uc021oyq.1_Missense_Mutation_p.P866S|POGZ_uc010pdb.2_Missense_Mutation_p.P910S|POGZ_uc010pdc.2_Missense_Mutation_p.P857S|POGZ_uc009wmv.2_Missense_Mutation_p.P824S|POGZ_uc001eyf.2_Missense_Mutation_p.P875S|POGZ_uc010pdd.2_Missense_Mutation_p.P410S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	919	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGGGGTTGGTGGTGGGGTT	0.592000														93			28		0	0	0.007291	0	0
MARC1	64757	broad.mit.edu	37	1	220964857	220964857	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:220964857G>A	uc001hmt.3	+	1	548	c.300G>A	c.(298-300)gaG>gaA	p.E100E	MARC1_uc001hms.3_Silent_p.E100E	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	100							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TCAACCAGGAGGGAAACATGG	0.522000														57			4		0	0	0.009096	0	0
ZNF568	374900	broad.mit.edu	37	19	37441598	37441598	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:37441598T>C	uc002ofc.3	+	6	2061	c.1543T>C	c.(1543-1545)Tca>Cca	p.S515P	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.S514P|ZNF568_uc002ofd.3_Missense_Mutation_p.S451P|ZNF568_uc010efe.3_Missense_Mutation_p.S451P|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTCAGAAATCAAACCTCAC	0.383000														68			14		0	0	0.001855	0	0
DHDH	27294	broad.mit.edu	37	19	49447728	49447728	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:49447728T>A	uc002ple.1	+	5	899	c.859T>A	c.(859-861)Tat>Aat	p.Y287N		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	287					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCATGAGTTATGAGGCCAA	0.627000														76			17		0	0	0.006122	0	0
USP35	57558	broad.mit.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:77921303C>T	uc021qny.1	+	9	2758	c.2402C>T	c.(2401-2403)cCg>cTg	p.P801L	USP35_uc001oze.2_Missense_Mutation_p.P557L|USP35_uc001ozc.3_Missense_Mutation_p.P369L|USP35_uc010rsp.2_Missense_Mutation_p.P233L|USP35_uc001ozd.3_Missense_Mutation_p.P412L|USP35_uc001ozf.3_Missense_Mutation_p.P532L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGCCAAGGGCCGTGCTACCTC	0.622000														86			7		0	0	0.003080	0	0
FAM86A	196483	broad.mit.edu	37	16	5140457	5140457	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr16:5140457T>A	uc002cyo.2	-	4	501	c.452A>T	c.(451-453)gAg>gTg	p.E151V	FAM86A_uc002cyp.2_Missense_Mutation_p.E117V	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	151										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCCGGGTTCTCGATGGCCCA	0.642000														123			11		0	0	0.001855	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595265	12595265	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr10:12595265C>T	uc001ilo.3	+	1	369	c.134C>T	c.(133-135)aCt>aTt	p.T45I	CAMK1D_uc001iln.3_Missense_Mutation_p.T45I	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	45	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAGAAGGCAACTGGCAAGCTC	0.468000														133			29		0	0	0.010818	0	0
ALAD	210	broad.mit.edu	37	9	116151742	116151742	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr9:116151742G>A	uc011lxf.2	-	9	979	c.777C>T	c.(775-777)gaC>gaT	p.D259D	ALAD_uc011lxe.2_Silent_p.D242D|ALAD_uc004bhl.4_Silent_p.D288D	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	259					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCGCACGATGTCCAGGTAGG	0.567000														74			21		0	0	0.002780	0	0
FZD1	8321	broad.mit.edu	37	7	90894779	90894779	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:90894779G>A	uc003ula.3	+	0	997	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	195	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGCGCGCGCGCCAGGGCTGC	0.672000														103			27		0	0	0.006320	0	0
abParts	0	broad.mit.edu	37	14	106357158	106357158	+	Splice_Site	SNP	A	G	G	rs111371090	by1000genomes	TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr14:106357158A>G	uc021ser.1	-	3804		c.57449_splice	c.e3804-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		TGGGCGGGGAATGCTTAGGGG	0.672000														17			5		0	0	0.001168	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022814	99022814	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:99022814G>A	uc011kiw.2	-	6	1548	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	ATP5J2-PTCD1_uc003uqh.3_Silent_p.A447A	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	496																	TAGGGGGAACGGCCCCGGGGG	0.647000														86			45		0	0	0.010771	0	0
OR1D5	8386	broad.mit.edu	37	17	2966535	2966535	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:2966535A>T	uc021tns.1	-	0	367	c.367T>A	c.(367-369)Tat>Aat	p.Y123N		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		kidney(1)|lung(10)	11						GTGGCCACATAGCGATCATAC	0.572000														55			30		0	0	0.003271	0	0
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	Missense_Mutation	SNP	G	A	A	rs11260887	by1000genomes	TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:17023110G>A	uc001azn.1	-	9	1754	c.1640C>T	c.(1639-1641)cCg>cTg	p.P547L						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTTGAGCAGCGGCTGAAACCC	0.687000														21			8		0	0	0.003080	0	0
GPR55	9290	broad.mit.edu	37	2	231775289	231775289	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr2:231775289C>T	uc021vxz.1	-	0	389	c.389G>A	c.(388-390)aGc>aAc	p.S130N	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.S130N|GPR55_uc010fxs.1_Missense_Mutation_p.S130N	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	130					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCGGAGGTGGCTCACCAGTAG	0.557000														57			7		0	0	0.001984	0	0
PDIA6	10130	broad.mit.edu	37	2	10927529	10927529	+	Silent	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr2:10927529A>T	uc002rau.3	-	10	1173	c.1035T>A	c.(1033-1035)ctT>ctA	p.L345L	PDIA6_uc010yjg.2_Silent_p.L342L|PDIA6_uc002rav.3_Silent_p.L397L|PDIA6_uc010yjh.2_Silent_p.L350L|PDIA6_uc002raw.3_Silent_p.L393L	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	345					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACGCGGTCTCAAGTTCAGACT	0.488000														55			6		0	0	0.003080	0	0
DIP2C	22982	broad.mit.edu	37	10	390986	390986	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr10:390986G>A	uc001ifp.3	-	26	3386	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	DIP2C_uc009xhi.1_Missense_Mutation_p.A485V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1099						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCCGCCGCCGCCTCCCTGGA	0.602000														24			6		0	0	0.001984	0	0
GRM4	2914	broad.mit.edu	37	6	34059742	34059742	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr6:34059742C>T	uc003oir.4	-	1	1017	c.654G>A	c.(652-654)tgG>tgA	p.W218*	GRM4_uc011dsn.2_Nonsense_Mutation_p.W218*|GRM4_uc010jvh.3_Nonsense_Mutation_p.W218*|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Nonsense_Mutation_p.W137*|GRM4_uc011dsl.2_Nonsense_Mutation_p.W78*|GRM4_uc003oiq.3_Nonsense_Mutation_p.W85*|GRM4_uc011dsm.2_Nonsense_Mutation_p.W49*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	218					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACACATAGTTCCACTTGAGGG	0.617000														43			14		0	0	0.002450	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596700	58596700	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:58596700G>A	uc010yht.1	-	6	1083	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	ZSCAN18_uc002qrj.3_Silent_p.A294A|ZSCAN18_uc010yhs.1_Silent_p.A159A|ZSCAN18_uc002qrh.2_Silent_p.A295A|ZSCAN18_uc002qri.2_Silent_p.A295A|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	295					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCGGGGGCGGCCTCCTCGC	0.741000														20			4		0	0	0.009096	0	0
TPPP3	51673	broad.mit.edu	37	16	67424233	67424233	+	Silent	SNP	C	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr16:67424233C>G	uc002etb.3	-	3	520	c.375G>C	c.(373-375)ctG>ctC	p.L125L	TPPP3_uc002esz.3_Silent_p.L125L|TPPP3_uc002eta.3_Silent_p.L125L	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	125					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TGGTGTCCGTCAGCCGGTCTA	0.617000														202			6		0	0	0.001984	0	0
ZNF568	374900	broad.mit.edu	37	19	37441598	37441598	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:37441598T>C	uc002ofc.3	+	6	2061	c.1543T>C	c.(1543-1545)Tca>Cca	p.S515P	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.S514P|ZNF568_uc002ofd.3_Missense_Mutation_p.S451P|ZNF568_uc010efe.3_Missense_Mutation_p.S451P|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTCAGAAATCAAACCTCAC	0.383000														68			14		0	0	0.001855	0	0
GFPT2	9945	broad.mit.edu	37	5	179751868	179751868	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr5:179751868G>A	uc003mlw.1	-	7	722	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	208	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATTTGCTCCGGACTCCGATGA	0.542000														114			24		0	0	0.006320	0	0
BSDC1	55108	broad.mit.edu	37	1	32842099	32842099	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:32842099T>G	uc001bvi.3	-	8	1018	c.971A>C	c.(970-972)cAa>cCa	p.Q324P	BSDC1_uc001bvh.4_Missense_Mutation_p.Q307P|BSDC1_uc010ohg.2_Missense_Mutation_p.Q324P|BSDC1_uc010ohh.2_Missense_Mutation_p.Q251P|BSDC1_uc010ohi.2_Missense_Mutation_p.Q212P|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.Q203P			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	307							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TAGCAGCTTTTGGGACAGGTC	0.597000														165			3		0	0	0.004672	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889093	116889093	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr10:116889093A>C	uc001lcg.3	+	4	1011	c.625A>C	c.(625-627)Aat>Cat	p.N209H	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.N209H	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	209	CUB.|EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTACAGAATCAATTCTTGTCC	0.303000														26			7		0	0	0.001984	0	0
NINL	22981	broad.mit.edu	37	20	25469912	25469912	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr20:25469912C>A	uc002wux.1	-	12	1719	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	NINL_uc010gdn.1_Missense_Mutation_p.A549S|NINL_uc010gdo.1_Missense_Mutation_p.A332S	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	549					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCAGGACTGCTGCGAACCGC	0.617000														113			22		7.41877e-09	1.10693e-08	0.012319	1	0
NINL	22981	broad.mit.edu	37	20	25469911	25469911	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr20:25469911G>T	uc002wux.1	-	12	1720	c.1646C>A	c.(1645-1647)gCa>gAa	p.A549E	NINL_uc010gdn.1_Missense_Mutation_p.A549E|NINL_uc010gdo.1_Missense_Mutation_p.A332E	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	549					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTTCAGGACTGCTGCGAACCG	0.617000														114			22		5.26018e-13	7.97511e-13	0.012319	1	0
TP53TG5	27296	broad.mit.edu	37	20	44005872	44005872	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr20:44005872C>G	uc002xny.3	-	2	315	c.234G>C	c.(232-234)aaG>aaC	p.K78N	DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	78					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCGGAGAATCTTTGGAACAC	0.512000														149			8		0	0	0.003080	0	0
Y00482	0	broad.mit.edu	37	7	38389256	38389256	+	Silent	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:38389256T>C	uc022aca.1	-	1	233	c.54A>G	c.(52-54)aaA>aaG	p.K18K	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		AGTTGGAAGATTTCTGACTGG	0.428000														80			29		0	0	0.007291	0	0
MYO5C	55930	broad.mit.edu	37	15	52504078	52504078	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr15:52504078A>G	uc010bff.3	-	34	4307	c.4145T>C	c.(4144-4146)tTg>tCg	p.L1382S	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1382						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACGGGGCTTCAAGTCTGAAGC	0.537000														81			3		0	0	0.004672	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000														102			3		0	0	0.004672	0	0
ATF7	11016	broad.mit.edu	37	12	53910964	53910964	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr12:53910964G>A	uc001sdy.3	-	10	1463	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.S470L|ATF7_uc010sol.2_Missense_Mutation_p.S449L|AK027179_uc001sdx.3_Non-coding_Transcript	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	481	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S481S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GATTACATGCGATTGTATCGG	0.587000														120			30		0	0	0.010818	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780346	100780346	+	Silent	SNP	G	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:100780346G>C	uc003uxt.3	+	7	1300	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	SERPINE1_uc011kkj.2_Silent_p.V369V|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	384					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCTCTTTGTGGTCCGGCACA	0.552000														139			23		0	0	0.002780	0	0
PCF11	51585	broad.mit.edu	37	11	82877713	82877713	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr11:82877713A>G	uc001ozx.4	+	4	2119	c.1774A>G	c.(1774-1776)Aag>Gag	p.K592E	PCF11_uc010rsu.1_Missense_Mutation_p.K592E	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	592					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAAAGTTCCAAGTCTGCCAA	0.368000														107			26		0	0	0.004656	0	0
CAPN5	726	broad.mit.edu	37	11	76825445	76825445	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr11:76825445C>T	uc009yup.3	+	5	969	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	CAPN5_uc001oxx.3_Missense_Mutation_p.H222Y|CAPN5_uc009yuq.3_Missense_Mutation_p.H258Y|CAPN5_uc001oxy.3_Missense_Mutation_p.H262Y	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	222	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTTAAAGGTGCACAGCCGGGG	0.592000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		255			18		0	0	0.007413	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573732	140573732	+	Missense_Mutation	SNP	G	A	A	rs17844579		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr5:140573732G>A	uc003lix.3	+	0	1781	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCC	0.682000														190			5		0	0	0.000602	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795602	9795602	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:9795602C>T	uc001aqh.3	-	12	2565	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	CLSTN1_uc001aqi.3_Missense_Mutation_p.M592I|CLSTN1_uc010oag.2_Missense_Mutation_p.M583I|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	602					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGATGTGCTGCATGGCCTTAT	0.527000														128			31		0	0	0.008361	0	0
RDM1	201299	broad.mit.edu	37	17	34257138	34257138	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr17:34257138G>A	uc002hkh.3	-	1	267	c.218C>T	c.(217-219)gCc>gTc	p.A73V	RDM1_uc010cty.3_Non-coding_Transcript|RDM1_uc010ctz.3_Missense_Mutation_p.A50V|RDM1_uc010cua.3_Missense_Mutation_p.A50V|RDM1_uc002hkg.4_Missense_Mutation_p.A50V|RDM1_uc010cub.3_Non-coding_Transcript|RDM1_uc010cuf.3_Non-coding_Transcript|RDM1_uc010cue.3_Intron|RDM1_uc010cug.3_Non-coding_Transcript|RDM1_uc010cuc.3_Missense_Mutation_p.A73V|RDM1_uc010cud.3_Missense_Mutation_p.A73V|RDM1_uc010wco.2_Missense_Mutation_p.A50V|RDM1_uc010wcp.2_Missense_Mutation_p.A50V|RDM1_uc002hki.3_Missense_Mutation_p.A73V	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	73	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.				DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTCTGTGGGCAGCCCTTGC	0.493000								Other identified genes with known or suspected DNA repair function						289			20		0	0	0.007413	0	0
GCH1	2643	broad.mit.edu	37	14	55310765	55310765	+	Silent	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr14:55310765C>T	uc001xbh.1	-	5	884	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GCH1_uc010aol.1_Intron|GCH1_uc001xbi.1_Silent_p.R241R|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 2, mRNA.	241			R -> W (in DYT5).		GTP catabolic process|dopamine biosynthetic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						GGAACTCTTCCCGAGTCTTTG	0.493000														110			21		0	0	0.010504	0	0
STAT1	6772	broad.mit.edu	37	2	191859893	191859893	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr2:191859893A>T	uc010fse.2	-	8	1270	c.838T>A	c.(838-840)Ttg>Atg	p.L280M	STAT1_uc021vue.1_Missense_Mutation_p.L92M|STAT1_uc002usj.2_Missense_Mutation_p.L280M|STAT1_uc002usk.2_Missense_Mutation_p.L280M|STAT1_uc002usl.2_Missense_Mutation_p.L282M|STAT1_uc010fsf.1_Missense_Mutation_p.L92M	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	280					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AATTCCTCCAACTTTTTAAGC	0.448000														61			30		0	0	0.009535	0	0
WNT10A	80326	broad.mit.edu	37	2	219754883	219754883	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr2:219754883G>A	uc002vjd.1	+	2	1017	c.554G>A	c.(553-555)gGt>gAt	p.G185D		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	185					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCGTGGTAAGGGCCTG	0.672000														46			11		0	0	0.010729	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														12			3		0	0	0.009096	0	0
MLX	6945	broad.mit.edu	37	17	40720856	40720856	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr17:40720856T>C	uc002iag.3	+	4	397	c.332_splice	c.e4-1	p.D111_splice	MLX_uc002iaf.3_Splice_Site_p.D57_splice|MLX_uc002iah.3_Splice_Site_p.D27_splice	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.	111	Helix-loop-helix motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGAGCGTAGATGATGAGGACA	0.607000														15			5		0	0	0.000602	0	0
SRRM1	10250	broad.mit.edu	37	1	24993373	24993373	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:24993373C>T	uc001bjm.3	+	12	1920	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	SRRM1_uc010oel.2_Missense_Mutation_p.P578S|SRRM1_uc009vrh.1_Missense_Mutation_p.P539S|SRRM1_uc009vri.1_Missense_Mutation_p.P495S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCCGCCCCTCCTCCTCGACG	0.537000														40			8		0	0	0.003080	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr18:3188908T>C	uc002klp.3	-	3	943	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_uc002klq.3_Silent_p.T203T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000														107			4		0	0	0.009096	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100016757	100016757	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:100016757T>C	uc003uut.3	-	4	586	c.338A>G	c.(337-339)cAg>cGg	p.Q113R	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.Q112R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.Q112R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.Q112R|ZCWPW1_uc011kju.1_Missense_Mutation_p.Q112R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	113							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGGGACTTCTGCAGAACAAT	0.438000														116			78		0	0	0.014410	0	0
SLC26A5	375611	broad.mit.edu	37	7	103017286	103017286	+	Silent	SNP	G	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:103017286G>T	uc003vbz.3	-	18	2272	c.2010C>A	c.(2008-2010)gtC>gtA	p.V670V	SLC26A5_uc003vbt.2_Silent_p.V670V|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.V638V	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	670	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATATATACCGACGTCTCCAT	0.308000														126			7		0.000157383	0.0002276	0.003080	1	0
HSDL2	84263	broad.mit.edu	37	9	115181173	115181173	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr9:115181173A>G	uc004bga.2	+	5	788	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	HSDL2_uc004bgc.2_Missense_Mutation_p.Y105C|HSDL2_uc004bgb.2_Missense_Mutation_p.M29V|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Missense_Mutation_p.Y57C	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	178						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGTCTATGTATGTGCTTGGA	0.274000														63			4		0	0	0.000602	0	0
ACTA1	58	broad.mit.edu	37	1	229568083	229568083	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:229568083C>T	uc001htm.3	-	3	655	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	184			G -> D (in NEM3; mild).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGATCGCGGCCCGCCAGGTCC	0.677000														51			13		0	0	0.013537	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	C	C	rs2982057	by1000genomes	TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000														23			4		0	0	0.000602	0	0
MYH2	4620	broad.mit.edu	37	17	10426831	10426831	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr17:10426831G>A	uc010coi.3	-	36	5582	c.5454C>T	c.(5452-5454)atC>atT	p.I1818I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1818I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1818					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAGTTTCTGGATCTGCTTCT	0.507000														118			69		0	0	0.014410	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558339	56558339	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr12:56558339T>C	uc001skb.3	-	26	3422	c.3316A>G	c.(3316-3318)Atc>Gtc	p.I1106V	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1106	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTAATACTGATGGAGTCAGCT	0.587000														69			33		0	0	0.004289	0	0
DHDH	27294	broad.mit.edu	37	19	49447704	49447704	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:49447704T>G	uc002ple.1	+	5	875	c.835T>G	c.(835-837)Ttt>Gtt	p.F279V		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	279					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGACTGCAATTTTGACAACGG	0.622000														66			20		0	0	0.012319	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261478	57261478	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr11:57261478T>A	uc001nkk.3	-	7	977	c.859A>T	c.(859-861)Aac>Tac	p.N287Y	SLC43A1_uc001nkl.3_Missense_Mutation_p.N287Y	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	287					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCAGGAAGGTTTTCTGAGGTG	0.567000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			9		0	0	0.010729	0	0
CRIP3	401262	broad.mit.edu	37	6	43275462	43275462	+	Silent	SNP	T	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr6:43275462T>C	uc010jyn.2	-	3	216	c.216A>G	c.(214-216)gtA>gtG	p.V72V	CRIP3_uc003ouu.1_Silent_p.V72V	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	72						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTAGGAGCCTACACCACCAA	0.627000														66			15		0	0	0.002450	0	0
BTG2	7832	broad.mit.edu	37	1	203276560	203276560	+	Silent	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:203276560C>T	uc001gzq.3	+	1	542	c.471C>T	c.(469-471)tcC>tcT	p.S157S	LOC730227_uc009xao.2_5'Flank|LOC730227_uc001gzp.2_5'Flank	NM_006763	NP_006754	P78543	BTG2_HUMAN	Homo sapiens BTG family, member 2 (BTG2), mRNA.	157					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TGGCAGTCTCCAGCTAGGCCC	0.632000														54			4		0	0	0.009096	0	0
GRM2	2912	broad.mit.edu	37	3	51749233	51749233	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr3:51749233A>C	uc010hlv.3	+	3	1683	c.1444A>C	c.(1444-1446)Acc>Ccc	p.T482P	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	482					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GACTCTGGACACCAGCCTCAT	0.627000														28			6		0	0	0.001984	0	0
BTBD6	90135	broad.mit.edu	37	14	105716270	105716270	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr14:105716270C>T	uc010tyq.2	+	4	827	c.719C>T	c.(718-720)gCc>gTc	p.A240V	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	240						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		ACTCGGGAGGCCCTCAACACC	0.617000														29			5		0	0	0.001168	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368604	145368604	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:145368604T>G	uc021oul.1	+	83	10617	c.10582T>G	c.(10582-10584)Tac>Gac	p.Y3528D	NBPF10_uc010oye.2_Missense_Mutation_p.Y887D|NBPF10_uc010oyi.2_Missense_Mutation_p.Y456D|NBPF10_uc010oyj.2_Missense_Mutation_p.Y244D|NBPF10_uc010oyl.2_Missense_Mutation_p.Y244D	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3528										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCGCCCTTTACGTGGACAA	0.443000														484			7		0	0	0.006214	0	0
POGZ	23126	broad.mit.edu	37	1	151378756	151378756	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:151378756G>A	uc001eyd.2	-	18	3070	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	POGZ_uc021oyq.1_Missense_Mutation_p.P866S|POGZ_uc010pdb.2_Missense_Mutation_p.P910S|POGZ_uc010pdc.2_Missense_Mutation_p.P857S|POGZ_uc009wmv.2_Missense_Mutation_p.P824S|POGZ_uc001eyf.2_Missense_Mutation_p.P875S|POGZ_uc010pdd.2_Missense_Mutation_p.P410S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	919	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGGGGTTGGTGGTGGGGTT	0.592000														93			28		0	0	0.007291	0	0
MARC1	64757	broad.mit.edu	37	1	220964857	220964857	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr1:220964857G>A	uc001hmt.3	+	1	548	c.300G>A	c.(298-300)gaG>gaA	p.E100E	MARC1_uc001hms.3_Silent_p.E100E	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	100							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TCAACCAGGAGGGAAACATGG	0.522000														57			4		0	0	0.009096	0	0
DHDH	27294	broad.mit.edu	37	19	49447728	49447728	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:49447728T>A	uc002ple.1	+	5	899	c.859T>A	c.(859-861)Tat>Aat	p.Y287N		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	287					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCATGAGTTATGAGGCCAA	0.627000														76			17		0	0	0.006122	0	0
USP35	57558	broad.mit.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr11:77921303C>T	uc021qny.1	+	9	2758	c.2402C>T	c.(2401-2403)cCg>cTg	p.P801L	USP35_uc001oze.2_Missense_Mutation_p.P557L|USP35_uc001ozc.3_Missense_Mutation_p.P369L|USP35_uc010rsp.2_Missense_Mutation_p.P233L|USP35_uc001ozd.3_Missense_Mutation_p.P412L|USP35_uc001ozf.3_Missense_Mutation_p.P532L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGCCAAGGGCCGTGCTACCTC	0.622000														86			7		0	0	0.003080	0	0
FAM86A	196483	broad.mit.edu	37	16	5140457	5140457	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr16:5140457T>A	uc002cyo.2	-	4	501	c.452A>T	c.(451-453)gAg>gTg	p.E151V	FAM86A_uc002cyp.2_Missense_Mutation_p.E117V	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	151										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCCGGGTTCTCGATGGCCCA	0.642000														123			11		0	0	0.001855	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595265	12595265	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr10:12595265C>T	uc001ilo.3	+	1	369	c.134C>T	c.(133-135)aCt>aTt	p.T45I	CAMK1D_uc001iln.3_Missense_Mutation_p.T45I	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	45	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAGAAGGCAACTGGCAAGCTC	0.468000														133			29		0	0	0.010818	0	0
ALAD	210	broad.mit.edu	37	9	116151742	116151742	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr9:116151742G>A	uc011lxf.2	-	9	979	c.777C>T	c.(775-777)gaC>gaT	p.D259D	ALAD_uc011lxe.2_Silent_p.D242D|ALAD_uc004bhl.4_Silent_p.D288D	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	259					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCGCACGATGTCCAGGTAGG	0.567000														74			21		0	0	0.002780	0	0
FZD1	8321	broad.mit.edu	37	7	90894779	90894779	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:90894779G>A	uc003ula.3	+	0	997	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	195	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGCGCGCGCGCCAGGGCTGC	0.672000														103			27		0	0	0.006320	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022814	99022814	+	Silent	SNP	G	A	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr7:99022814G>A	uc011kiw.2	-	6	1548	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	ATP5J2-PTCD1_uc003uqh.3_Silent_p.A447A	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	496																	TAGGGGGAACGGCCCCGGGGG	0.647000														86			45		0	0	0.010771	0	0
OR1D5	8386	broad.mit.edu	37	17	2966535	2966535	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr17:2966535A>T	uc021tns.1	-	0	367	c.367T>A	c.(367-369)Tat>Aat	p.Y123N		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		kidney(1)|lung(10)	11						GTGGCCACATAGCGATCATAC	0.572000														55			30		0	0	0.003271	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:160589601delT	uc001fwl.4	-	4	1175	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													---	235	---	---	8	---					
HTT	3064	broad.mit.edu	37	4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	-	-	rs71180116		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr4:3076604_3076609delCAGCAG	uc021xkv.1	+	0	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	HTT-AS1_uc021xku.1_5'Flank	NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	36	Poly-Gln.				Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704													---	4	---	---	2	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	5	---	---	3	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													---	5	---	---	4	---					
CLEC4GP1	440508	broad.mit.edu	37	19	7853293	7853294	+	RNA	INS	-	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:7853293_7853294insG	uc010xjy.1	+	2		c.285_286insG			CLEC4GP1_uc002mij.2_Non-coding_Transcript|CLEC4GP1_uc002mil.2_Non-coding_Transcript|CLEC4GP1_uc002mim.2_Non-coding_Transcript					Homo sapiens C-type lectin domain family 4, member G pseudogene 1 (CLEC4GP1), non-coding RNA.																		CCTGGGCGCCCGGGGCGTGTGC	0.723													---	4	---	---	2	---					
KCNN1	3780	broad.mit.edu	37	19	18109140	18109140	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:18109140delC	uc002nht.3	+	10	1867	c.1557delC	c.(1555-1557)ggcfs	p.G519fs	ARRDC2_uc002nhu.3_5'Flank	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	519				PLPPRPGPGPQDQAARSSPCRWTPVAPSDC -> RLPRQRA GLDH (in Ref. 3; BAD86831).	synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CCAGGCCCGGCCCCGGCCCCC	0.751													---	4	---	---	2	---					
NR2C2AP	126382	broad.mit.edu	37	19	19313644	19313645	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:19313644_19313645insT	uc002nlx.3	-	1	453_454	c.84_85insA	c.(82-87)aaacatfs	p.K28fs	NR2C2AP_uc010xqq.1_5'Flank	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Homo sapiens nuclear receptor 2C2-associated protein (NR2C2AP), mRNA.	28					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TCGAAAAGATGTTTTTTTCCAA	0.540													---	95	---	---	20	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	5	---	---	3	---					
CLEC4GP1	440508	broad.mit.edu	37	19	7853293	7853294	+	RNA	INS	-	G	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:7853293_7853294insG	uc010xjy.1	+	2		c.285_286insG			CLEC4GP1_uc002mij.2_Non-coding_Transcript|CLEC4GP1_uc002mil.2_Non-coding_Transcript|CLEC4GP1_uc002mim.2_Non-coding_Transcript					Homo sapiens C-type lectin domain family 4, member G pseudogene 1 (CLEC4GP1), non-coding RNA.																		CCTGGGCGCCCGGGGCGTGTGC	0.723													---	4	---	---	2	---					
KCNN1	3780	broad.mit.edu	37	19	18109140	18109140	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:18109140delC	uc002nht.3	+	10	1867	c.1557delC	c.(1555-1557)ggcfs	p.G519fs	ARRDC2_uc002nhu.3_5'Flank	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	519				PLPPRPGPGPQDQAARSSPCRWTPVAPSDC -> RLPRQRA GLDH (in Ref. 3; BAD86831).	synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CCAGGCCCGGCCCCGGCCCCC	0.751													---	4	---	---	2	---					
NR2C2AP	126382	broad.mit.edu	37	19	19313644	19313645	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	273e635f-7ca9-467c-865c-835912b08de1	g.chr19:19313644_19313645insT	uc002nlx.3	-	1	453_454	c.84_85insA	c.(82-87)aaacatfs	p.K28fs	NR2C2AP_uc010xqq.1_5'Flank	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Homo sapiens nuclear receptor 2C2-associated protein (NR2C2AP), mRNA.	28					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TCGAAAAGATGTTTTTTTCCAA	0.540													---	95	---	---	20	---					
