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
IFIH1	64135	broad.mit.edu	37	2	163174366	163174367	+	Splice_Site	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:163174366_163174367CG>AT	uc002uce.3	-	1	675	c.453_splice	c.e1+1	p.R151_splice	IFIH1_uc002ucf.3_Splice_Site_p.R151_splice	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	151	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.R151R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GACACCTACCCGGTTTCTGTCT	0.490000														394			13		0	0	6.4e-05	0	0
MYO10	4651	broad.mit.edu	37	5	16673992	16673993	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:16673992_16673993CC>AA	uc003jft.4	-	35	5438_5439	c.4970_4971GG>TT	c.(4969-4971)cgg>cTT	p.R1657L	MYO10_uc011cnb.2_Missense_Mutation_p.R286L|MYO10_uc011cnc.2_Missense_Mutation_p.R536L|MYO10_uc011cnd.2_Missense_Mutation_p.R1014L|MYO10_uc011cne.2_Missense_Mutation_p.R1014L|MYO10_uc010itx.3_Missense_Mutation_p.R1279L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1657	MyTH4.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.R1657L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAAACTGTTCCCGTATCCTAGG	0.465000														92			6		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437782	120437783	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120437782_120437783GG>TT	uc001eij.3	-	0	1365_1366	c.1177_1178CC>AA	c.(1177-1179)cca>AAa	p.P393K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACCTAGTCCTGGGATATTATTT	0.411000														918			24		0	0	6.4e-05	0	0
PDE8B	8622	broad.mit.edu	37	5	76709077	76709078	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:76709077_76709078CC>AA	uc003kfa.3	+	16	1899_1900	c.1854_1855CC>AA	c.(1852-1857)acccat>acAAat	p.H619N	PDE8B_uc003kfd.3_Missense_Mutation_p.H572N|PDE8B_uc003kfe.3_Missense_Mutation_p.H522N|PDE8B_uc003kfb.3_Missense_Mutation_p.H599N|PDE8B_uc003kfc.3_Missense_Mutation_p.H564N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	619	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACAACTCCACCCATGCTGCCGA	0.475000														473			13		0	0	6.4e-05	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27867408	27867409	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr7:27867408_27867409GG>TT	uc003szl.3	+	15	2319_2320	c.2137_2138GG>TT	c.(2137-2139)ggg>TTg	p.G713L	TAX1BP1_uc011jzo.2_Missense_Mutation_p.G671L|TAX1BP1_uc003szk.3_Missense_Mutation_p.G671L|TAX1BP1_uc011jzp.2_Missense_Mutation_p.G514L	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	713					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACATTTACGTGGGCATGGGACA	0.401000														584			13		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438501	120438502	+	Missense_Mutation	DNP	GG	TT	TT	rs17852538		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120438501_120438502GG>TT	uc001eij.3	-	0	646_647	c.458_459CC>AA	c.(457-459)ccc>cAA	p.P153Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	153					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTCAAAACTGGGAGAGGCCTT	0.450000														921			19		0	0	6.4e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137843566	137843566	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137843566C>A	uc003ers.2	-	2	765	c.563G>T	c.(562-564)cGg>cTg	p.R188L		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	188					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ACTAGAGTACCGAGAAGCCTG	0.493000														388			14		3.45872e-05	0.00261852	3.45872e-05	1	0
THADA	63892	broad.mit.edu	37	2	43802053	43802054	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:43802053_43802054CC>AA	uc002rsw.4	-	10	1502_1503	c.1150_1151GG>TT	c.(1150-1152)ggg>TTg	p.G384L	THADA_uc002rsx.4_Missense_Mutation_p.G384L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.G94L|THADA_uc002rta.2_Missense_Mutation_p.G94L|THADA_uc002rtb.1_Missense_Mutation_p.G384L|THADA_uc002rtc.4_Missense_Mutation_p.G384L|THADA_uc002rtd.3_Missense_Mutation_p.G384L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	384							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTTGAATTCCCATTCAGGCTG	0.421000														583			14		0	0	6.4e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	A	A	rs78186669		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:145360584G>A	uc021oul.1	+	73	9244	c.9209G>A	c.(9208-9210)gGg>gAg	p.G3070E	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3070										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)		GATGAGAAAGGGCCTGAAGTC	0.483000														20			4		0	0	8.12818e-05	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53706882	53706883	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:53706882_53706883CC>AA	uc002ehp.3	-	7	992_993	c.928_929GG>TT	c.(928-930)ggg>TTg	p.G310L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.G310L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G310L|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.G310L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	310					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAATTCATCCCCATTTGCCATC	0.317000														516			13		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437038	120437039	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120437038_120437039CG>AT	uc001eij.3	-	0	2109_2110	c.1921_1922CG>AT	c.(1921-1923)cgg>ATg	p.R641M		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	641	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCAAACACCCCGGGTATTGCAT	0.490000														897			20		0	0	6.4e-05	0	0
CDSN	1041	broad.mit.edu	37	6	31084467	31084467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:31084467G>A	uc003nsm.2	-	1	981	c.925C>T	c.(925-927)Cca>Tca	p.P309S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	309	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GTCATGCCTGGAACCAGATAA	0.547000														4			13		0	0	0.000151284	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														43			8		0	0	0.00010058	0	0
PSG3	5671	broad.mit.edu	37	19	43243060	43243060	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:43243060G>A	uc002oue.3	-	1	378	c.246C>T	c.(244-246)taC>taT	p.Y82Y	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	82	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATCTACTACGTATGATGTAA	0.443000														203			124		0	0	0.000147903	0	0
F2RL1	2150	broad.mit.edu	37	5	76128757	76128758	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:76128757_76128758CC>AA	uc003keo.3	+	1	500_501	c.325_326CC>AA	c.(325-327)cct>AAt	p.P109N		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	109					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GAAGAAGCACCCTGCTGTGATT	0.475000														577			14		0	0	6.4e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426102	138426103	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138426102_138426103CC>AA	uc011bmq.2	-	8	1428_1429	c.1428_1429GG>TT	c.(1426-1431)atggga>atTTga	p.476_477MG>I*	PIK3CB_uc011bmn.2_Nonsense_Mutation_p.5_6MG>I*|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.80_81MG>I*	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	476					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGAACAGTTCCCATTGGATTCA	0.302000														583			13		0	0	6.4e-05	0	0
AK098438	0	broad.mit.edu	37	1	21752830	21752830	+	RNA	SNP	C	T	T	rs139145324	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:21752830C>T	uc001bep.1	-	2		c.146G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TGAAAGGAGTCGAATACCATC	0.473000														31			13		0	0	5.49717e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510117	120510118	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120510117_120510118GG>TT	uc001eik.3	-	7	1688_1689	c.1391_1392CC>AA	c.(1390-1392)ccc>cAA	p.P464Q	NOTCH2_uc001eil.3_Missense_Mutation_p.P464Q|NOTCH2_uc021osy.1_Missense_Mutation_p.P425Q|NOTCH2_uc001eim.4_Missense_Mutation_p.P381Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	464	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCTGGCAGGGGTCTGAATG	0.515000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					900			19		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459047	120459048	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120459047_120459048CC>AA	uc001eik.3	-	33	6594_6595	c.6297_6298GG>TT	c.(6295-6300)atgggc>atTTgc	p.2099_2100MG>IC		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2099					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACTTCTTGCCCATTGGGGTGT	0.554000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					912			17		0	0	6.4e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461467	138461468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138461467_138461468GG>TT	uc011bmq.2	-	2	553_554	c.553_554CC>AA	c.(553-555)cct>AAt	p.P185N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	185	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGTTTTCAGGGATGGATGGT	0.376000														528			15		0	0	6.4e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137849834	137849835	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137849834_137849835CC>AA	uc003ers.2	-	1	466_467	c.264_265GG>TT	c.(262-267)aagggt>aaTTgt	p.88_89KG>NC		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	88					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TCAGTAAGACCCTTCATAAAGA	0.475000														463			14		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458896	120458897	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120458896_120458897GG>TT	uc001eik.3	-	33	6745_6746	c.6448_6449CC>AA	c.(6448-6450)cct>AAt	p.P2150N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2150					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAATCAACAGGGGATAAAGTT	0.495000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					912			16		0	0	6.4e-05	0	0
CLCC1	23155	broad.mit.edu	37	1	109486591	109486592	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:109486591_109486592CC>AA	uc021ora.1	-	3	438_439	c.427_428GG>TT	c.(427-429)gga>TTa	p.G143L	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.G143L|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Missense_Mutation_p.G143L	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	143						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCAGTCTTCTCCATTGAGAAAC	0.327000														628			15		0	0	6.4e-05	0	0
SENP2	59343	broad.mit.edu	37	3	185316811	185316812	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:185316811_185316812GG>TT	uc003fpn.3	+	4	529	c.358_splice	c.e4+1	p.G120_splice	SENP2_uc011brv.2_Splice_Site_p.G110_splice|SENP2_uc011brw.2_Intron	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	120					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGCTGAAACTGGGTGAGGTGGT	0.381000														429			12		0	0	6.4e-05	0	0
TAOK2	9344	broad.mit.edu	37	16	29998438	29998438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:29998438C>T	uc010bzm.2	+	14	2901	c.2866C>T	c.(2866-2868)Cat>Tat	p.H956Y	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.H836Y|TAOK2_uc002dva.2_Missense_Mutation_p.H949Y|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.H776Y	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	949	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACTCCTGTCCCATGGCCTCCT	0.667000														79			39		0	0	0.000147903	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:156469690_156469691CC>AA	uc010jij.1	-	5	969_970	c.784_785GG>TT	c.(784-786)ggg>TTg	p.G262L	HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	257					interspecies interaction between organisms	integral to membrane	receptor activity	p.G262V(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGTCATTCCCATCTACTCAA	0.347000														488			11		0	0	6.4e-05	0	0
TCF7L2	6934	broad.mit.edu	37	10	114724329	114724330	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:114724329_114724330CG>AT	uc021pyi.1	+	3	903_904	c.396_397CG>AT	c.(394-399)tccggc>tcATgc	p.G133C	TCF7L2_uc001lah.3_Intron|TCF7L2_uc010qro.2_Intron|TCF7L2_uc001lae.4_Missense_Mutation_p.G133C|TCF7L2_uc010qrm.2_Missense_Mutation_p.G133C|TCF7L2_uc010qrn.2_Intron|TCF7L2_uc021pyg.1_Intron|TCF7L2_uc021pyh.1_Intron|TCF7L2_uc021pyj.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyk.1_Intron|TCF7L2_uc021pyl.1_Intron|TCF7L2_uc010qrp.2_Intron|TCF7L2_uc021pym.1_Intron|TCF7L2_uc021pyn.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyo.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyp.1_Missense_Mutation_p.G133C|TCF7L2_uc010qrq.2_Intron|TCF7L2_uc001lac.4_Intron|TCF7L2_uc010qrk.2_Intron|TCF7L2_uc001lad.4_Intron|TCF7L2_uc001lag.4_Intron|TCF7L2_uc001laf.4_Intron|TCF7L2_uc010qrl.2_Intron|TCF7L2_uc010qrr.2_Intron|TCF7L2_uc010qrs.2_Intron|TCF7L2_uc010qrt.2_Intron	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	133					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATTTTCAGTCCGGCAGCACACA	0.391000			T	VTI1A	colorectal									441			11		0	0	6.4e-05	0	0
RGPD3	653489	broad.mit.edu	37	2	107073516	107073516	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:107073516T>C	uc010ywi.1	-	3	373	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	106					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACATCATTTTTACAAAGCAAT	0.328000														104			61		0	0	0.000147903	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166551	96166552	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:96166551_96166552GG>TT	uc022ayk.1	+	0	279_280	c.279_280GG>TT	c.(277-282)gaggga>gaTTga	p.93_94EG>D*	PLEKHF2_uc003yhn.2_Nonsense_Mutation_p.93_94EG>D*	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	93	PH.					transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TCAAAGATGAGGGAGACTTAAG	0.342000														851			19		0	0	6.4e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913548	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:16913547_16913548GG>TT	uc009vos.1	-	10	1663_1664	c.775_776CC>AA	c.(775-777)cca>AAa	p.P259K	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	259	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.401000														554			17		0	0	6.4e-05	0	0
NBPF7	343505	broad.mit.edu	37	1	120387021	120387022	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120387021_120387022GG>TT	uc010oxk.2	-	0	758_759	c.137_138CC>AA	c.(136-138)ccc>cAA	p.P46Q		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	46						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CTGCCAGCTGGGGGCGCAATTT	0.475000											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		904			17		0	0	6.4e-05	0	0
LILRB4	11006	broad.mit.edu	37	19	55179198	55179198	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:55179198A>G	uc002qgp.3	+	10	1516	c.1154A>G	c.(1153-1155)gAc>gGc	p.D385G	LILRB4_uc002qgq.3_Missense_Mutation_p.D384G|LILRB4_uc010ert.3_Missense_Mutation_p.D426G|LILRB4_uc010eru.3_Missense_Mutation_p.D415G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	385						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAATTCCTGGACACAAAGGAC	0.587000														22			4		0	0	1.23904e-05	0	0
PTPN1	5770	broad.mit.edu	37	20	49195776	49195776	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr20:49195776G>T	uc002xvl.3	+	6	948	c.774G>T	c.(772-774)atG>atT	p.M258I	PTPN1_uc010zys.2_Missense_Mutation_p.M185I	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	258	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AGTTTCGGATGGGGCTGATCC	0.502000														195			57		3.89483e-19	3.00182e-17	0.000147903	1	0
ZNF35	7584	broad.mit.edu	37	3	44692709	44692709	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:44692709G>A	uc003cnq.3	+	1	371	c.150G>A	c.(148-150)caG>caA	p.Q50Q	ZNF35_uc003cnr.3_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	50	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCCCAGTGCAGGGTCTTCAGA	0.502000														34			21		0	0	4.16121e-05	0	0
LOC728819	728819	broad.mit.edu	37	2	43903111	43903112	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:43903111_43903112CC>AA	uc010fav.1	-	0	350_351	c.350_351GG>TT	c.(349-351)tgg>tTT	p.W117F	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTGTACCCACCTGTCATT	0.406000														724			21		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														74			7		0	0	0.000157383	0	0
C4BPA	722	broad.mit.edu	37	1	207287557	207287557	+	Silent	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:207287557C>T	uc001hfo.3	+	2	449	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	85	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCCTGGCTACGTCAGATCCC	0.433000														46			16		0	0	5.01169e-05	0	0
PPM1B	5495	broad.mit.edu	37	2	44428714	44428715	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:44428714_44428715GG>TT	uc002rtt.3	+	1	804_805	c.376_377GG>TT	c.(376-378)ggg>TTg	p.G126L	PPM1B_uc002rts.3_Missense_Mutation_p.G126L|PPM1B_uc002rtu.3_Missense_Mutation_p.G126L|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.G126L|PPM1B_uc002rtx.3_Missense_Mutation_p.G126L	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	126					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTCAGAAACGGGATGGACAGG	0.391000														586			19		0	0	6.4e-05	0	0
PASK	23178	broad.mit.edu	37	2	242066278	242066278	+	Silent	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:242066278C>T	uc002wao.2	-	9	2185	c.2052G>A	c.(2050-2052)ccG>ccA	p.P684P	PASK_uc010zol.2_Silent_p.P498P|PASK_uc010zom.2_Silent_p.P649P|PASK_uc010fzl.2_Silent_p.P684P|PASK_uc010zon.2_Silent_p.P465P|PASK_uc021vzf.1_Silent_p.P684P|PASK_uc002wap.3_Silent_p.P227P|PASK_uc002waq.3_Silent_p.P684P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	684			P -> R (in dbSNP:rs56372985).		regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.P684S(1)|p.V683I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCACTCTGTCGGAACGAGTT	0.617000														59			28		0	0	0.000227799	0	0
OR4M2	390538	broad.mit.edu	37	15	22369155	22369156	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:22369155_22369156CC>AA	uc010tzu.2	+	0	678_679	c.580_581CC>AA	c.(580-582)cca>AAa	p.P194K	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P194S(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAACACCTTCCCAGAGGAGTTA	0.470000														239			9		0	0	6.4e-05	0	0
RANBP2	5903	broad.mit.edu	37	2	109352090	109352091	+	Missense_Mutation	DNP	CG	AT	AT	rs140279690		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:109352090_109352091CG>AT	uc002tem.4	+	4	634_635	c.508_509CG>AT	c.(508-510)cgg>ATg	p.R170M		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	170					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTGAACATCCGGCTAGTGGAG	0.436000														487			11		0	0	6.4e-05	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166718	96166719	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:96166718_96166719GG>TT	uc022ayk.1	+	0	446_447	c.446_447GG>TT	c.(445-447)tgg>tTT	p.W149F	PLEKHF2_uc003yhn.2_Missense_Mutation_p.W149F	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	149						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTGCTGTCTGGGTTCCTGACT	0.421000														834			19		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	203977877	203977879	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:203977877_203977879GG>TT	uc002uzt.3	+	15	2588_2590	c.2255_2257GG>TT	c.(2254-2259)tgggga>tTTga	p.752_753WG>F		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	752							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGCCTCCTGGGGAGGAACAAT	0.483000														417			11		0	0	6.4e-05	0	0
LOC646214	646214	broad.mit.edu	37	15	21936678	21936678	+	RNA	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:21936678T>C	uc010tzj.1	-	0		c.4062A>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ACCCCTTTTTTCCACATCTGT	0.398000														149			19		0	0	9.7654e-05	0	0
NAPA	8775	broad.mit.edu	37	19	47991567	47991567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:47991567C>T	uc002phd.2	-	10	1184	c.866G>A	c.(865-867)gGc>gAc	p.G289D	LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Missense_Mutation_p.G289D|NAPA_uc002phc.2_Missense_Mutation_p.G176D	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	289					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTCCTCATCGCCCTGGATGGT	0.622000														36			23		0	0	0.000117367	0	0
NOTCH2	4853	broad.mit.edu	37	1	120484302	120484303	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120484302_120484303CC>AA	uc001eik.3	-	17	3124_3125	c.2827_2828GG>TT	c.(2827-2829)ggg>TTg	p.G943L	NOTCH2_uc001eil.3_Missense_Mutation_p.G943L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	943	EGF-like 24; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACTTATCCCCAGTGAAACCC	0.480000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					870			27		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009407	204009408	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:204009407_204009408GG>TT	uc002uzt.3	+	30	5179_5180	c.4846_4847GG>TT	c.(4846-4848)ggg>TTg	p.G1616L	NBEAL1_uc021vvj.1_Missense_Mutation_p.G319L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1616							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTACATTTTAGGGAAGCTGGAA	0.391000														601			16		0	0	6.4e-05	0	0
BCL9L	283149	broad.mit.edu	37	11	118779312	118779312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:118779312G>A	uc001pug.3	-	1	1044	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	BCL9L_uc009zal.3_Missense_Mutation_p.R22C|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	27					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.R27H(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAATGACCGCGGGGGGACAGC	0.592000														15			7		0	0	1.12685e-05	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300038	120300039	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120300038_120300039GG>TT	uc001eid.3	-	4	961_962	c.873_874CC>AA	c.(871-876)accctt>acAAtt	p.L292I	HMGCS2_uc010oxj.2_Missense_Mutation_p.L250I|HMGCS2_uc021osw.1_Missense_Mutation_p.L58I|HMGCS2_uc021osx.1_Missense_Mutation_p.L145I	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AAATCGTCAAGGGTGAAGGGTC	0.510000														783			16		0	0	6.4e-05	0	0
CA4	762	broad.mit.edu	37	17	58235086	58235086	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:58235086G>A	uc002iym.4	+	4	544	c.450G>A	c.(448-450)tcG>tcA	p.S150S	CA4_uc010wou.2_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	150					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AGGGGACATCGAGGAATGTGA	0.592000														12			56		0	0	0.000147903	0	0
UPF2	26019	broad.mit.edu	37	10	12070985	12070986	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12070985_12070986GG>TT	uc001ila.3	-	1	1377_1378	c.903_904CC>AA	c.(901-906)tcccac>tcAAac	p.H302N	UPF2_uc001ilb.3_Missense_Mutation_p.H302N|UPF2_uc001ilc.3_Missense_Mutation_p.H302N|UPF2_uc009xiz.2_Missense_Mutation_p.H302N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	302	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ACATGAGTGTGGGACTCCCGAT	0.376000														522			15		0	0	6.4e-05	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	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														93			5		0	0	0.000157383	0	0
PGM2L1	283209	broad.mit.edu	37	11	74057837	74057838	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:74057837_74057838CG>AT	uc001ovb.1	-	7	1272_1273	c.976_977CG>AT	c.(976-978)cgg>ATg	p.R326M		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	326					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TAGCACTACCCGGGCATTTTCT	0.431000														398			11		0	0	6.4e-05	0	0
CTTN	2017	broad.mit.edu	37	11	70267679	70267680	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:70267679_70267680CC>AA	uc001opv.4	+	10	1100_1101	c.894_895CC>AA	c.(892-897)tcccag>tcAAag	p.Q299K	CTTN_uc001opu.3_Intron|CTTN_uc001opw.4_Intron|CTTN_uc010rqm.2_Intron|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	299						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGCACGAGTCCCAGCAAGGCAC	0.584000														453			12		0	0	6.4e-05	0	0
DBR1	51163	broad.mit.edu	37	3	137892420	137892421	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137892420_137892421CC>AA	uc003erv.3	-	1	399_400	c.245_246GG>TT	c.(244-246)ggg>gTT	p.G82V	DBR1_uc003eru.3_Missense_Mutation_p.G31V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	82						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGGTTTCCCCCAATGAAGAG	0.416000														494			15		0	0	6.4e-05	0	0
FAAH	2166	broad.mit.edu	37	1	46876127	46876128	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:46876127_46876128CC>AA	uc001cpu.2	+	9	1315_1316	c.1233_1234CC>AA	c.(1231-1236)ccccaa>ccAAaa	p.Q412K	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	412					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGAAGCTTCCCCAATGGCTTAA	0.584000														179			9		0	0	6.4e-05	0	0
NOL11	25926	broad.mit.edu	37	17	65733761	65733762	+	Silent	DNP	CC	AA	AA	rs150891541		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:65733761_65733762CC>AA	uc002jgd.1	+	11	1359_1360	c.1356_1357CC>AA	c.(1354-1359)ccccgg>ccAAgg	p.452_453PR>PR	NOL11_uc010wql.1_Silent_p.270_271PR>PR|NOL11_uc010deu.1_Silent_p.47_48PR>PR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	452						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATTTTATCCCCGGAACTGTCT	0.431000														223			9		0	0	6.4e-05	0	0
WDR12	55759	broad.mit.edu	37	2	203748393	203748394	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:203748393_203748394GG>TT	uc002uzl.3	-	10	1809_1810	c.1059_1060CC>AA	c.(1057-1062)acccat>acAAat	p.H354N		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	354	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding	p.H354Y(2)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTGTTCATGGGTAGGAGACC	0.381000														482			10		0	0	6.4e-05	0	0
HOMER1	9456	broad.mit.edu	37	5	78671906	78671906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:78671906C>T	uc003kfy.3	-	8	2094	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Missense_Mutation_p.E201K|HOMER1_uc010jad.3_Missense_Mutation_p.E157K	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	331					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCCAGAATTTCTAAGAGTGTC	0.393000														55			28		0	0	0.000117367	0	0
ESRP1	54845	broad.mit.edu	37	8	95680338	95680339	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95680338_95680339CC>AA	uc003ygq.4	+	9	1276_1277	c.1093_1094CC>AA	c.(1093-1095)cca>AAa	p.P365K	ESRP1_uc003ygr.4_Missense_Mutation_p.P365K|ESRP1_uc003ygs.4_Missense_Mutation_p.P365K|ESRP1_uc003ygt.4_Missense_Mutation_p.P365K|ESRP1_uc003ygu.4_Missense_Mutation_p.P365K|ESRP1_uc003ygv.3_Missense_Mutation_p.P205K|ESRP1_uc003ygw.3_Missense_Mutation_p.P205K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	365	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGTCACCTACCCAGATGGTAGG	0.510000														662			17		0	0	6.4e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46569818	46569819	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:46569818_46569819CG>AT	uc001ncv.2	-	1	426_427	c.112_113CG>AT	c.(112-114)cgg>ATg	p.R38M	AMBRA1_uc009ylc.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncu.1_Missense_Mutation_p.R38M|AMBRA1_uc010rgu.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncw.2_Missense_Mutation_p.R38M|AMBRA1_uc001ncx.2_Missense_Mutation_p.R38M	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	38					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.R38Q(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTTCATCCACCGGGTTTTATCT	0.515000														204			7		0	0	6.4e-05	0	0
G6PD	2539	broad.mit.edu	37	X	153774257	153774257	+	Silent	SNP	A	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chrX:153774257A>C	uc004fly.1	-	1	227	c.114T>G	c.(112-114)ggT>ggG	p.G38G	G6PD_uc004flx.1_Silent_p.G68G|IKBKG_uc011mzr.2_Intron|IKBKG_uc010nva.3_5'Flank|IKBKG_uc004fmb.4_5'Flank|IKBKG_uc011mzs.2_5'Flank|IKBKG_uc004fmd.3_5'Flank	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	38					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCGATGCACCCATGATGA	0.562000														139			37		0	0	5.1965e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:72553733_72553734GG>TT	uc009ytl.3	-	16	2079_2080	c.1858_1859CC>AA	c.(1858-1860)cca>AAa	p.P620K	FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	620	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000														811			17		0	0	6.4e-05	0	0
UBR5	51366	broad.mit.edu	37	8	103291097	103291098	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:103291097_103291098CC>AA	uc003ykr.2	-	43	6699_6700	c.6244_6245GG>TT	c.(6244-6246)ggg>TTg	p.G2082L	UBR5_uc003yks.2_Missense_Mutation_p.G2082L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2082					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAAACATTTCCCACTACTGGCA	0.371000														454			11		0	0	6.4e-05	0	0
SMG1	23049	broad.mit.edu	37	16	18848644	18848644	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:18848644A>G	uc002dfm.3	-	45	7898	c.7535T>C	c.(7534-7536)cTa>cCa	p.L2512P	SMG1_uc010bwb.3_Missense_Mutation_p.L2372P|SMG1_uc010bwa.3_Missense_Mutation_p.L1243P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2512					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCCTCCAGTAGTTTGCCCTG	0.428000														134			63		0	0	0.000147903	0	0
TEX14	56155	broad.mit.edu	37	17	56676262	56676263	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:56676262_56676263GG>TT	uc010dcz.2	-	13	2579_2580	c.2461_2462CC>AA	c.(2461-2463)cca>AAa	p.P821K	TEX14_uc002iwr.2_Missense_Mutation_p.P815K|TEX14_uc002iws.2_Missense_Mutation_p.P815K|TEX14_uc010dda.2_Missense_Mutation_p.P595K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	821						cytoplasm	ATP binding|protein kinase activity	p.P815Q(1)|p.P821Q(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTAGGGTTGGGTAGTTGCCA	0.480000														392			12		0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10415496	10415496	+	Silent	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:10415496T>C	uc002gmo.3	-	12	1255	c.1161A>G	c.(1159-1161)gcA>gcG	p.A387A	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	387	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K386R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGAGATAGGCTGCCTTGTCAG	0.443000														83			7		0	0	0.000157383	0	0
SEC61A2	55176	broad.mit.edu	37	10	12199906	12199907	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12199906_12199907GG>TT	uc001ile.2	+	9	925	c.778_splice	c.e9-1	p.G260_splice	SEC61A2_uc010qbq.1_Splice_Site_p.G238_splice|SEC61A2_uc001ilf.4_Splice_Site|SEC61A2_uc001ilh.4_Splice_Site|SEC61A2_uc001ilg.4_Splice_Site_p.G260_splice	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	260						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TCCTTTTTTAGGGATTTCGCGT	0.490000														238			10		0	0	6.4e-05	0	0
ZNF7	7553	broad.mit.edu	37	8	146067043	146067043	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:146067043T>C	uc010mge.3	+	4	721	c.584T>C	c.(583-585)cTt>cCt	p.L195P	ZNF7_uc003zeg.4_Missense_Mutation_p.L184P|ZNF7_uc011lln.2_Missense_Mutation_p.L88P|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.L88P|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTCAGCCTCTTGAAAGTCAG	0.537000														72			19		0	0	0.000132079	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203846974	203846975	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:203846974_203846975CC>AA	uc002uzo.2	+	14	2149_2150	c.1869_1870CC>AA	c.(1867-1872)acccaa>acAAaa	p.Q624K	ALS2CR8_uc010zia.1_Missense_Mutation_p.Q548K|ALS2CR8_uc010zib.1_Missense_Mutation_p.Q548K|ALS2CR8_uc010zic.1_Missense_Mutation_p.Q536K|ALS2CR8_uc002uzp.2_Missense_Mutation_p.Q624K	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	624										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CATGCTTAACCCAAAACAATAG	0.416000														475			12		0	0	6.4e-05	0	0
PHF3	23469	broad.mit.edu	37	6	64394879	64394879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:64394879C>T	uc003pep.1	+	2	1281	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	PHF3_uc010kaf.1_Missense_Mutation_p.S419L|PHF3_uc003pem.2_Missense_Mutation_p.S372L|PHF3_uc010kag.1_Missense_Mutation_p.S331L|PHF3_uc010kah.1_Missense_Mutation_p.S233L|PHF3_uc003pen.2_Missense_Mutation_p.S331L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.S419L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	419					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTAATAAATCAAACTTAGAG	0.363000														61			33		0	0	0.000109025	0	0
LARS	51520	broad.mit.edu	37	5	145533506	145533506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:145533506G>A	uc003lnx.1	-	10	1341	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	LARS_uc011dbq.1_Missense_Mutation_p.S322L|LARS_uc011dbr.1_Missense_Mutation_p.S314L|LARS_uc011dbs.1_Missense_Mutation_p.S341L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	368	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CACCTTGTATGATGTTAAAGG	0.294000														48			28		0	0	0.000109025	0	0
RYR2	6262	broad.mit.edu	37	1	237732504	237732504	+	Silent	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:237732504C>T	uc001hyl.1	+	28	3603	c.3483C>T	c.(3481-3483)gtC>gtT	p.V1161V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1161	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGGCGATGTCGTGGGGTGTA	0.502000														32			13		0	0	0.00010058	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159213	118159214	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:118159213_118159214CG>AT	uc003yoh.3	+	1	322_323	c.92_93CG>AT	c.(91-93)ccg>cAT	p.P31H	SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	31					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.P31Q(6)|p.P31K(2)|p.P31T(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAACAGAAACCGGTGAATAAAG	0.520000														460			13		0	0	6.4e-05	0	0
INSR	3643	broad.mit.edu	37	19	7170679	7170680	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:7170679_7170680CC>AA	uc002mgd.1	-	5	1460_1461	c.1351_1352GG>TT	c.(1351-1353)ggg>TTg	p.G451L	INSR_uc002mge.1_Missense_Mutation_p.G451L|INSR_uc002mgf.3_Missense_Mutation_p.G451L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	451					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGAGTTTCCCCTGAGTGATG	0.475000														585			15		0	0	6.4e-05	0	0
AGGF1	55109	broad.mit.edu	37	5	76330273	76330274	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:76330273_76330274GG>TT	uc003ket.3	+	1	623_624	c.241_242GG>TT	c.(241-243)ggg>TTg	p.G81L	AGGF1_uc003kes.3_Missense_Mutation_p.G81L|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	81					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACTCCAACGTGGGAGAAATGAA	0.347000														319			12		0	0	6.4e-05	0	0
CDH9	1007	broad.mit.edu	37	5	26886150	26886151	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:26886150_26886151GG>TT	uc003jgs.1	-	9	1723_1724	c.1554_1555CC>AA	c.(1552-1557)ccccga>ccAAga	p.518_519PR>PR	CDH9_uc011cnv.1_Silent_p.111_112PR>PR	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	518	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R519R(2)|p.P518P(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTGTGACCTCGGGGAGGGTCAT	0.322000														196			11		0	0	6.4e-05	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594204	100594205	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:100594204_100594205GG>TT	uc002bvv.1	-	15	2271_2272	c.2192_2193CC>AA	c.(2191-2193)ccc>cAA	p.P731Q		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	731	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGAACTCTCCGGGGAGCTCTAT	0.530000														101			6		0	0	6.4e-05	0	0
FES	2242	broad.mit.edu	37	15	91437271	91437272	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:91437271_91437272GG>TT	uc002bpv.3	+	17	2428_2429	c.2309_2310GG>TT	c.(2308-2310)cgg>cTT	p.R770L	FES_uc010uqj.2_Missense_Mutation_p.R642L|FES_uc010uqk.2_Missense_Mutation_p.R752L|FES_uc002bpx.3_Missense_Mutation_p.R700L|FES_uc002bpy.3_Missense_Mutation_p.R712L|FES_uc010bny.3_Missense_Mutation_p.R629L	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	770	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGCAGACACGGGAGTTTGTGG	0.574000														452			11		0	0	6.4e-05	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				13			6		0	0	3.59834e-05	0	0
UPF2	26019	broad.mit.edu	37	10	12077265	12077266	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12077265_12077266GG>TT	uc001ila.3	-	0	631_632	c.157_158CC>AA	c.(157-159)cct>AAt	p.P53N	UPF2_uc001ilb.3_Missense_Mutation_p.P53N|UPF2_uc001ilc.3_Missense_Mutation_p.P53N|UPF2_uc009xiz.2_Missense_Mutation_p.P53N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	53	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGTCTTCAGGGGCCTTGCTG	0.460000														825			17		0	0	6.4e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	144816652	144816653	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:144816652_144816653GG>TT	uc009wig.1	+	11	1747_1748	c.1553_1554GG>TT	c.(1552-1554)cgg>cTT	p.R518L	NBPF10_uc010oxo.1_Missense_Mutation_p.R520L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.R249L|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.R180L	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	520								p.H517Y(1)|p.R262L(1)		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)		CATGTTGAACGGGAAGATGCTG	0.446000														343			17		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873913	144873914	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:144873913_144873914GG>TT	uc021ouh.1	-	30	5345_5346	c.5043_5044CC>AA	c.(5041-5046)ccccag>ccAAag	p.Q1682K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q1682K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1638K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q689K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1682					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGGTATTCTGGGGAGTTGGCA	0.520000			T	PDGFRB	MPD									835			21		0	0	6.4e-05	0	0
PRDM16	63976	broad.mit.edu	37	1	3328709	3328709	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:3328709G>A	uc001akf.3	+	8	2030	c.1948G>A	c.(1948-1950)Ggg>Agg	p.G650R	PRDM16_uc001ake.3_Missense_Mutation_p.G650R|PRDM16_uc009vlh.3_Missense_Mutation_p.G351R|PRDM16_uc001akc.3_Missense_Mutation_p.G650R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	650					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCCAAGTTTGGGGGCGGCTT	0.687000			T	EVI1	"""MDS, AML"""									5			34		0	0	0.000132358	0	0
PCDH15	65217	broad.mit.edu	37	10	55996590	55996590	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:55996590G>A	uc010qhy.1	-	9	1388	c.993C>T	c.(991-993)atC>atT	p.I331I	PCDH15_uc010qhq.2_Silent_p.I331I|PCDH15_uc010qhr.2_Silent_p.I326I|PCDH15_uc021pqv.1_Silent_p.I326I|PCDH15_uc021pqw.1_Silent_p.I331I|PCDH15_uc010qht.2_Silent_p.I326I|PCDH15_uc021pqx.1_Silent_p.I326I|PCDH15_uc001jjv.1_Silent_p.I304I|PCDH15_uc021pqy.1_Silent_p.I326I|PCDH15_uc021pqz.1_Silent_p.I304I|PCDH15_uc010qhv.1_Silent_p.I326I|PCDH15_uc010qhw.1_Silent_p.I289I|PCDH15_uc010qhx.1_Silent_p.I326I|PCDH15_uc010qhz.1_Silent_p.I326I|PCDH15_uc010qia.1_Silent_p.I304I|PCDH15_uc001jju.1_Silent_p.I326I|PCDH15_uc010qib.1_Silent_p.I304I|PCDH15_uc001jjw.3_Silent_p.I326I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	326	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACCAACAAGGATGGAATAGA	0.363000										HNSCC(58;0.16)				59			27		0	0	0.000147802	0	0
APOB	338	broad.mit.edu	37	2	21234704	21234705	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:21234704_21234705CC>AA	uc002red.3	-	25	5163_5164	c.5035_5036GG>TT	c.(5035-5037)ggg>TTg	p.G1679L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATAGATGCCCCAGAGAGGCCA	0.485000														378			11		0	0	6.4e-05	0	0
UPF1	5976	broad.mit.edu	37	19	18960966	18960966	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:18960966G>T	uc002nkg.3	+	3	819	c.544G>T	c.(544-546)Gag>Tag	p.E182*	UPF1_uc002nkf.3_Nonsense_Mutation_p.E182*	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	182	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GACAGTCCTGGAGTGCTACAA	0.572000														38			24		1.22574e-08	9.36267e-07	3.10358e-05	1	0
BLM	641	broad.mit.edu	37	15	91304022	91304023	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:91304022_91304023CC>AA	uc002bpr.3	+	6	1516_1517	c.1419_1420CC>AA	c.(1417-1422)acccta>acAAta	p.L474I	BLM_uc010uqh.2_Missense_Mutation_p.L474I|BLM_uc010uqi.2_Missense_Mutation_p.L99I|BLM_uc010bnx.3_Missense_Mutation_p.L474I	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	474					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGACTACCACCCTAGGAAAGAC	0.431000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					478			13		0	0	6.4e-05	0	0
HAS2	3037	broad.mit.edu	37	8	122641109	122641110	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:122641109_122641110CG>AT	uc003yph.2	-	1	1009_1010	c.471_472CG>AT	c.(469-474)cccggt>ccATgt	p.G158C		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	158						integral to plasma membrane	hyaluronan synthase activity	p.G158S(2)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTGTCTCACCGGGACCCTTTT	0.436000														390			9		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461160	120461161	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120461160_120461161CG>AT	uc001eik.3	-	31	6094_6095	c.5797_5798CG>AT	c.(5797-5799)cga>ATa	p.R1933I		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1933					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAGTTACTCGGTTGCGAATC	0.480000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					867			14		0	0	6.4e-05	0	0
IDE	3416	broad.mit.edu	37	10	94215379	94215380	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:94215379_94215380GG>TT	uc001kia.3	-	23	2993_2994	c.2917_2918CC>AA	c.(2917-2919)cca>AAa	p.P973K	IDE_uc010qnp.2_Missense_Mutation_p.P418K|IDE_uc001khz.3_Missense_Mutation_p.P418K	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	973					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTTGACATGGGAACTCTCCA	0.317000														658			14		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497663	120497664	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120497663_120497664CC>AA	uc001eik.3	-	13	2516	c.2219_splice	c.e13+1	p.G740_splice	NOTCH2_uc001eil.3_Splice_Site_p.G740_splice|NOTCH2_uc021osy.1_Splice_Site_p.G701_splice|NOTCH2_uc001eim.4_Splice_Site_p.G657_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	740	EGF-like 19.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTACTCACCCACTGAGACCT	0.515000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					884			23		0	0	6.4e-05	0	0
CEP70	80321	broad.mit.edu	37	3	138219327	138219328	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138219327_138219328CC>AA	uc003esl.3	-	14	1648_1649	c.1450_1451GG>TT	c.(1450-1452)gga>TTa	p.G484L	CEP70_uc011bmk.2_Missense_Mutation_p.G464L|CEP70_uc011bml.2_Missense_Mutation_p.G466L|CEP70_uc011bmm.2_Missense_Mutation_p.G332L|CEP70_uc003esm.3_Missense_Mutation_p.G484L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	484					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGGATAGACTCCATTTAAAGAA	0.371000														671			16		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120483249	120483250	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120483249_120483250CC>AA	uc001eik.3	-	18	3408_3409	c.3111_3112GG>TT	c.(3109-3114)gaggga>gaTTga	p.1037_1038EG>D*	NOTCH2_uc001eil.3_Nonsense_Mutation_p.1037_1038EG>D*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1037	EGF-like 27; calcium-binding (Potential).			E -> D (in Ref. 4; AAB19224).	Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.E1037D(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACACGTTCCCTCATTCAGGC	0.520000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					907			21		0	0	6.4e-05	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160747	12160748	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12160747_12160748GG>TT	uc001ild.4	+	15	2502	c.2403_splice	c.e15-1	p.K801_splice		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	801					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGTCCAACAGGGTTAAGACCC	0.475000														329			13		0	0	6.4e-05	0	0
ATR	545	broad.mit.edu	37	3	142224106	142224107	+	Nonsense_Mutation	DNP	CG	AT	AT	rs142881746	byFrequency	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:142224106_142224107CG>AT	uc003eux.4	-	28	5192_5193	c.5070_5071CG>AT	c.(5068-5073)gccgga>gcATga	p.G1691*		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1691	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCACTGACTCCGGCCACTCCAT	0.386000								Other conserved DNA damage response genes						259			8		0	0	6.4e-05	0	0
AGAP5	729092	broad.mit.edu	37	10	75435633	75435634	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:75435633_75435634GG>TT	uc009xri.3	-	7	825_826	c.784_785CC>AA	c.(784-786)cca>AAa	p.P262K	AGAP5_uc001juu.4_Missense_Mutation_p.P223K	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	262					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCTTTGTCTGGGTGACTCCCT	0.554000														221			9		0	0	6.4e-05	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414014	61414015	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:61414014_61414015GG>TT	uc010qig.1	-	4	1218_1219	c.769_770CC>AA	c.(769-771)ccc>AAc	p.P257N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	257					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.P257H(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TGTCACTGTGGGGTTTTTATGA	0.401000														204			9		0	0	6.4e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16907242	16907243	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:16907242_16907243GG>TT	uc009vos.1	-	15	2476_2477	c.1588_1589CC>AA	c.(1588-1590)cca>AAa	p.P530K	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	530	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.421000														649			20		0	0	6.4e-05	0	0
FAM71B	153745	broad.mit.edu	37	5	156589729	156589730	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:156589729_156589730CC>AA	uc003lwn.3	-	1	1646_1647	c.1546_1547GG>TT	c.(1546-1548)ggg>TTg	p.G516L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	516						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTTCTTCCCCAGTTCCTGA	0.495000														569			13		0	0	6.4e-05	0	0
HERC2P2	400322	broad.mit.edu	37	15	23326594	23326595	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:23326594_23326595CC>AA	uc001yvr.2	-	10	1526_1527	c.1326_1327GG>TT	c.(1324-1329)cagggt>caTTgt	p.442_443QG>HC	HERC2P2_uc010ayf.1_Intron|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GGATAAAGACCCTGCACATTCT	0.416000														196			8		0	0	6.4e-05	0	0
FHOD3	80206	broad.mit.edu	37	18	34335106	34335106	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr18:34335106G>T	uc021uiv.1	+	24	4354	c.4257G>T	c.(4255-4257)atG>atT	p.M1419I	FHOD3_uc002kzs.1_Missense_Mutation_p.M1244I|FHOD3_uc002kzt.1_Missense_Mutation_p.M1227I|FHOD3_uc010dmz.1_Missense_Mutation_p.M959I|FHOD3_uc010dnb.1_Missense_Mutation_p.M223I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1227					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TACTCTTTATGGGCCATCCAC	0.358000														55			5		8.12818e-05	0.0060997	8.12818e-05	1	0
PSAP	5660	broad.mit.edu	37	10	73578442	73578443	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:73578442_73578443CC>AA	uc001jsm.3	-	12	1574_1575	c.1470_1471GG>TT	c.(1468-1473)ttggga>ttTTga	p.490_491LG>F*		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	490	Saposin A-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTCTCAGTTCCCAACAAGGGCT	0.520000														222			8		0	0	6.4e-05	0	0
SGCD	6444	broad.mit.edu	37	5	156074494	156074495	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:156074494_156074495CC>AA	uc003lwc.4	+	6	1042_1043	c.523_524CC>AA	c.(523-525)cct>AAt	p.P175N	SGCD_uc003lwb.3_Missense_Mutation_p.P175N|SGCD_uc003lwd.4_Missense_Mutation_p.P174N	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	174					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACAGTGTTCCCTAAATCTATA	0.441000														285			12		0	0	6.4e-05	0	0
DMXL1	1657	broad.mit.edu	37	5	118525496	118525497	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:118525496_118525497CG>AT	uc010jcl.1	+	28	7410_7411	c.7229_7230CG>AT	c.(7228-7230)tcg>tAT	p.S2410Y	DMXL1_uc003ksd.2_Missense_Mutation_p.S2410Y|DMXL1_uc021ycw.1_Missense_Mutation_p.S2237Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2410										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCCCTTCCTCGGCACCAGTAA	0.431000														130			6		0	0	6.4e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95862268	95862269	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95862268_95862269CC>AA	uc003yhb.3	+	11	1582_1583	c.1456_1457CC>AA	c.(1456-1458)cct>AAt	p.P486N	INTS8_uc003yha.1_Missense_Mutation_p.P486N|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313N	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	486					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGAGATCCCCTAGAGTAAAT	0.391000														701			19		0	0	6.4e-05	0	0
NCOA7	135112	broad.mit.edu	37	6	126211073	126211073	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:126211073A>G	uc003qai.3	+	8	2242	c.1873A>G	c.(1873-1875)Aat>Gat	p.N625D	NCOA7_uc010kes.3_Missense_Mutation_p.N625D|NCOA7_uc003qae.4_Missense_Mutation_p.N625D|NCOA7_uc010ket.3_Missense_Mutation_p.N510D|NCOA7_uc003qah.3_Missense_Mutation_p.N614D	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	625					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACAAATGGATAATAAATCTGA	0.373000														18			37		0	0	6.26518e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120506320	120506321	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120506320_120506321CG>AT	uc001eik.3	-	10	2088_2089	c.1791_1792CG>AT	c.(1789-1794)cccggg>ccATgg	p.G598W	NOTCH2_uc001eil.3_Missense_Mutation_p.G598W|NOTCH2_uc021osy.1_Missense_Mutation_p.G559W|NOTCH2_uc001eim.4_Missense_Mutation_p.G515W	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	598	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P597P(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCATGTACCCGGGATTGCAGA	0.525000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					869			17		0	0	6.4e-05	0	0
MDS2	259283	broad.mit.edu	37	1	23953539	23953540	+	RNA	DEL	GA	-	-			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:23953539_23953540delGA	uc001bhi.3	+	2		c.829_830delGA			MDS2_uc001bhj.3_Non-coding_Transcript					Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						AAAGGGAGGGGAGAGAGAGAGA	0.535			T	ETV6	MDS								---	4	---	---	2	---					
NBPF7	343505	broad.mit.edu	37	1	120379932	120379932	+	Frame_Shift_Del	DEL	G	-	-	rs115348036	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120379932delG	uc010oxk.2	-	5	1510	c.889delC	c.(889-891)cagfs	p.Q297fs		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	297	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGAGTTACCTGGGGGGGCACT	0.448													---	1591	---	---	7	---					
LMBRD2	92255	broad.mit.edu	37	5	36123065	36123066	+	Splice_Site	INS	-	A	A	rs72438158		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:36123065_36123066insA	uc003jkb.1	-	8	1238	c.823_splice	c.e8-1	p.C275_splice		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	275						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTAGGGCACtaaaaaaaaaaa	0.252													---	45	---	---	7	---					
NDUFS7	374291	broad.mit.edu	37	19	1388895	1388896	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:1388895_1388896delTG	uc002lsf.2	+	4	487_488	c.378_379delTG	c.(376-381)tatgtgfs	p.Y126fs	NDUFS7_uc002lsh.3_Frame_Shift_Del_p.Y126fs|NDUFS7_uc002lsg.2_Frame_Shift_Del_p.Y69fs|NDUFS7_uc002lse.4_Frame_Shift_Del_p.Y62fs			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	62					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GGGGCGAGTATGTGGTGGCCAA	0.663													---	4	---	---	2	---					
