Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MX2	4600	broad.mit.edu	37	21	42754398	42754398	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr21:42754398C>T	ENST00000330714.3	+	5	823	c.639C>T	c.(637-639)atC>atT	p.I213I	MX2_ENST00000543692.1_Silent_p.I168I	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	213					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCCTGGAGATCACCTCCCCTG	0.617000													21	35					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173753	86173753	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:86173753G>T	ENST00000431532.2	-	1	363	c.215C>A	c.(214-216)cCg>cAg	p.P72Q	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.P72Q	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	72	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TAGGTCCATCGGTATTTCCTC	0.567000													5	57					0.014758	0.0148082	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6731119	6731119	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:6731119C>G	ENST00000405858.1	-	5	1995	c.1454G>C	c.(1453-1455)aGa>aCa	p.R485T	ZNF12_ENST00000342651.5_Missense_Mutation_p.R447T|ZNF12_ENST00000404360.1_Missense_Mutation_p.R411T|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	485					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTGTGCACTCTCTGATGTCT	0.398000													23	69					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014017	21014017	+	Missense_Mutation	SNP	G	G	A	rs114229809	byFrequency	TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:21014017G>A	ENST00000247986.2	-	8	2112	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	KIF17_ENST00000375044.1_Missense_Mutation_p.P501L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P601L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	601					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CACCTCCTGCGGCTCCTCTTG	0.642000													5	51					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27237897	27237897	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:27237897C>T	ENST00000222753.4	-	2	1115	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	363					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						ACCTGCCGCTCAGAGAGATTC	0.413000			T	NUP98	AML								23	168					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171765732	171765732	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:171765732G>A	ENST00000361735.3	+	8	2202	c.1936G>A	c.(1936-1938)Gtg>Atg	p.V646M	METTL13_ENST00000367737.5_Missense_Mutation_p.V490M|METTL13_ENST00000362019.3_Missense_Mutation_p.V560M|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.V645M	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	646							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGAGGGTGAAGTGAATGAGAT	0.552000													22	145					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266739	124266739	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:124266739C>T	ENST00000354597.3	-	1	525	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GATATTAGCACTGCAGAAGGT	0.502000													5	27					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325610	21325610	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:21325610C>G	ENST00000256958.2	+	3	207	c.111C>G	c.(109-111)agC>agG	p.S37R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	37					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGTCACTCAGCTTTATTGCTA	0.363000													6	48					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	11987362	11987362	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:11987362G>A	ENST00000396505.2	-	7	1062	c.824C>T	c.(823-825)cCc>cTc	p.P275L	DKK3_ENST00000450094.2_Missense_Mutation_p.P247L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.P275L|DKK3_ENST00000525493.1_Missense_Mutation_p.P275L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	275	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TCACCTGTGGGGCTGGCAGAG	0.657000													7	19					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53301296	53301296	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:53301296G>C	ENST00000566029.1	+	21	4620	c.4411G>C	c.(4411-4413)Gaa>Caa	p.E1471Q	CHD9_ENST00000564845.1_Missense_Mutation_p.E1471Q|CHD9_ENST00000398510.3_Missense_Mutation_p.E1471Q|CHD9_ENST00000447540.1_Missense_Mutation_p.E1471Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1471					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGAAGCTGAAAGTGAAGG	0.413000													19	48					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617033	79617033	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:79617033G>C	ENST00000296739.4	+	1	1244	c.999G>C	c.(997-999)caG>caC	p.Q333H		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCTTACAGCAGAGAGTAGAGA	0.423000													20	49					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202692	123202692	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:123202692C>A	ENST00000264501.4	+	52	9173	c.8800C>A	c.(8800-8802)Cca>Aca	p.P2934T	KIAA1109_ENST00000388738.3_Splice_Site_p.P2934T|KIAA1109_ENST00000455637.1_Splice_Site_p.P2934T			Q2LD37	K1109_HUMAN	KIAA1109	2934					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTTTCTAGCCCACAGCCTGT	0.323000													6	25					0.00198382	0.00203204	1	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220363789	220363789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:220363789G>A	ENST00000358951.2	-	15	1677	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	521					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGACAGATCTGATAAGTCTGT	0.423000													26	95					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222285	41222285	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:41222285C>G	ENST00000249749.5	+	2	583	c.307C>G	c.(307-309)Ctc>Gtc	p.L103V		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	103					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCGCAACCCTCTCCAACTGCC	0.682000											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406965	77406965	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:77406965C>G	ENST00000560626.2	-	7	5249	c.4774G>C	c.(4774-4776)Gag>Cag	p.E1592Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1592Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1592	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GTCTGGAACTCATCACACTTT	0.537000													6	51					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220953510	220953510	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:220953510G>T	ENST00000366913.3	+	6	1011	c.813G>T	c.(811-813)agG>agT	p.R271S	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	271	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGCATAACAGGTGTATTTTGA	0.512000													8	146					2.17888e-05	2.30383e-05	1	1	0
DHX8	1659	broad.mit.edu	37	17	41598226	41598226	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:41598226G>C	ENST00000262415.3	+	20	3117	c.3045G>C	c.(3043-3045)caG>caC	p.Q1015H	DHX8_ENST00000540306.1_Missense_Mutation_p.Q1015H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1015						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGTCTGTGCAGAACGTCTTCT	0.488000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877388	10877388	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:10877388G>C	ENST00000379491.4	-	2	475	c.328C>G	c.(328-330)Cgg>Ggg	p.R110G	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.562000													29	76					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21357905	21357905	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:21357905C>G	ENST00000400602.2	-	23	3447	c.3412G>C	c.(3412-3414)Gaa>Caa	p.E1138Q	XPO4_ENST00000255305.6_Missense_Mutation_p.E1138Q	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1138					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATAAATTCTTCTAAACTCTTT	0.403000													35	104					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950205	27950205	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:27950205C>T	ENST00000379992.2	-	6	914	c.465G>A	c.(463-465)ctG>ctA	p.L155L	LINGO2_ENST00000308675.3_Silent_p.L155L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	155						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTAGAGACTTCAGGTTATGTA	0.428000													14	40					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134706853	134706853	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:134706853A>T	ENST00000370752.4	+	11	1735	c.1401A>T	c.(1399-1401)aaA>aaT	p.K467N	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	467										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACAATAAAAATTTTAGAA	0.388000													4	24					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145584513	145584513	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:145584513G>C	ENST00000393045.2	+	12	1570	c.1480G>C	c.(1480-1482)Gtg>Ctg	p.V494L	PIAS3_ENST00000369298.1_Missense_Mutation_p.V459L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	494					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCATCCTCGGTGCTAAGGAG	0.607000													24	102					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064691	64064691	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:64064691C>T	ENST00000538767.1	+	3	467	c.215C>T	c.(214-216)tCg>tTg	p.S72L	KCNK4_ENST00000539216.1_Silent_p.V138V|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.V138V|KCNK4_ENST00000394525.2_Silent_p.V138V			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TGGCAGGGGTCGGGGACCGGC	0.627000													9	29					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244622	12244622	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:12244622C>G	ENST00000334213.5	-	4	603	c.379G>C	c.(379-381)Gac>Cac	p.D127H	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TGTCCAGTGTCAGCTCTGATA	0.413000													39	153					0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929399	139929399	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:139929399G>A	ENST00000314330.2	+	3	1980	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	156										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GTTTTGCCCAGAAATGGGTCA	0.617000													14	53					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222305	41222305	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:41222305C>T	ENST00000249749.5	+	2	603	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	109					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTTCAATTTCACCTGGCCGG	0.652000											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042447	40042447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:40042447C>A	ENST00000352035.2	-	18	2120	c.1990G>T	c.(1990-1992)Gga>Tga	p.G664*	ACLY_ENST00000590151.1_Nonsense_Mutation_p.G664*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.G393*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.G654*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.G654*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	664					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GACATGCCTCCGGAACGTGAG	0.577000													18	99					5.03518e-11	5.62644e-11	1	1	0
POLR2B	5431	broad.mit.edu	37	4	57873166	57873166	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:57873166C>G	ENST00000381227.1	+	11	1815	c.1402C>G	c.(1402-1404)Cag>Gag	p.Q468E	POLR2B_ENST00000314595.5_Missense_Mutation_p.Q468E|POLR2B_ENST00000441246.2_Missense_Mutation_p.Q461E|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q393E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	468					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGGAGTATCTCAGGTAAGTGT	0.358000													6	38					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365762	35365762	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:35365762C>G	ENST00000373347.1	-	4	1488	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G407A			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	407					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTCTGAGTCTCCGCTCTCCTC	0.642000													35	94					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222182	41222182	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:41222182C>T	ENST00000249749.5	+	2	480	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	68					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCAGGCGGTCGTCTCGCCCG	0.677000													5	15					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33454295	33454295	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:33454295C>T	ENST00000283629.3	-	4	896	c.367G>A	c.(367-369)Gac>Aac	p.D123N	UBP1_ENST00000283628.5_Missense_Mutation_p.D123N|UBP1_ENST00000447368.2_Missense_Mutation_p.D123N	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	123					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCCGTCTGTCATGGAATACA	0.423000													23	69					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5803707	5803707	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:5803707G>A	ENST00000382674.2	+	16	2519	c.2335G>A	c.(2335-2337)Gtc>Atc	p.V779I	EVC_ENST00000264956.6_Missense_Mutation_p.V779I			P57679	EVC_HUMAN	Ellis van Creveld syndrome	779					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGTGGAGAGCGTCTACGTGAC	0.592000													7	25					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158526363	158526363	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:158526363C>A	ENST00000313708.6	-	1	406	c.124G>T	c.(124-126)Gcg>Tcg	p.A42S	EBF1_ENST00000517373.1_Missense_Mutation_p.A42S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A42S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	42					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGCGCCGCCGTGTTGGCG	0.741000			T	HMGA2	lipoma								22	38					2.32416e-17	2.62692e-17	1	1	0
PTCD3	55037	broad.mit.edu	37	2	86355070	86355070	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:86355070C>T	ENST00000254630.7	+	14	1169	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TGAGAACCCTCGCTTGCAACA	0.333000													33	101					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28610060	28610060	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:28610060C>T	ENST00000357727.2	+	5	759	c.369C>T	c.(367-369)ccC>ccT	p.P123P	CREB5_ENST00000396299.2_Silent_p.P90P|CREB5_ENST00000409603.1_Silent_p.P90P|CREB5_ENST00000396300.2_Silent_p.P116P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	123					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CTCGGCTGCCCAACCATGACA	0.582000													22	38					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531157	43531157	+	Silent	SNP	A	A	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:43531157A>C	ENST00000220420.5	-	9	1210	c.1203T>G	c.(1201-1203)gcT>gcG	p.A401A	TGM5_ENST00000349114.4_Silent_p.A319A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	401					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACATGCAGTCAGCATTCACCA	0.527000													15	35					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18541402	18541402	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:18541402C>T	ENST00000428502.2	-	1	207	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	0					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGTCCTCACCCGTACCTTGCT	0.483000													4	110					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13655526	13655526	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:13655526G>A	ENST00000404922.3	+	5	1710	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E531K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	531	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGCGGGCCGAGGGCCAGTC	0.597000													5	32					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151001403	151001403	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:151001403G>A	ENST00000271620.3	+	7	1072	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368936.1_Missense_Mutation_p.V124M|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368934.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	306						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTCCCCATGTGGCACTCCA	0.493000													10	38					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048100	8048100	+	RNA	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:8048100T>C	ENST00000607111.1	+	0	28																				kidney(1)|lung(4)|prostate(1)	6						TCCATGGATCTGCCTATTCAG	0.403000													17	67					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15512927	15512927	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:15512927G>C	ENST00000424120.1	+	8	852	c.598G>C	c.(598-600)Gat>Cat	p.D200H	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D200H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D200H|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D151H			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	200					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TTTCAACTTTGATCCCGAACC	0.453000													3	10					0	0	1	0	0
FUCA2	2519	broad.mit.edu	37	6	143825312	143825312	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:143825312C>T	ENST00000002165.6	-	3	545	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ACCTCAAGTTCCTTGACAATG	0.453000													19	73					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501607	134501607	+	Silent	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:134501607A>G	ENST00000372195.1	-	10	1647	c.1404T>C	c.(1402-1404)gaT>gaC	p.D468D	RAPGEF1_ENST00000372189.3_Silent_p.D451D|RAPGEF1_ENST00000372190.3_Silent_p.D469D|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	451					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CAGGTGGCGTATCTGTCTGCT	0.667000													5	12					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611145	53611145	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:53611145C>T	ENST00000342160.3	-	40	5619		c.e40+1		HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGGTACATACCATTGCCTTT	0.353000													33	39					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552812	50552812	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr22:50552812A>G	ENST00000262794.5	+	7	970	c.887A>G	c.(886-888)aAt>aGt	p.N296S	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.N276S|MOV10L1_ENST00000395858.3_Missense_Mutation_p.N296S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N296S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	296					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTTCCAGGAATAAAGGAGAC	0.358000													16	34					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	32981678	32981678	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:32981678C>G	ENST00000374864.4	+	3	274	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	ITCH_ENST00000262650.6_Missense_Mutation_p.Q21E|ITCH_ENST00000535650.1_5'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	21	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATCACAGCTTCAGATCACTGG	0.443000													30	131					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	156983396	156983396	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:156983396G>A	ENST00000362010.2	-	13	2491	c.2184C>T	c.(2182-2184)gtC>gtT	p.V728V	VEPH1_ENST00000392832.2_Silent_p.V728V|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.V683V|VEPH1_ENST00000543418.1_Silent_p.V683V|RP11-550I24.2_ENST00000488040.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	728	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTTCCATCTGACTTGCTTCT	0.373000													14	86					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													3	15					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40559205	40559205	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr21:40559205A>T	ENST00000333229.2	-	42	7037	c.6710T>A	c.(6709-6711)gTt>gAt	p.V2237D		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTTGCAGCAACAGTAGCACA	0.403000													48	128					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43572021	43572021	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:43572021G>A	ENST00000452443.2	-	10	1484	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	494					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCCAGGTGAAGCTGCAGCTGC	0.632000													19	40					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145736098	145736098	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:145736098C>G	ENST00000301327.4	+	3	1208	c.948C>G	c.(946-948)atC>atG	p.I316M		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	316	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCACAATCTTGAGAGGTG	0.652000													9	46					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60264891	60264891	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:60264891C>A	ENST00000016913.4	+	2	157	c.100C>A	c.(100-102)Ctg>Atg	p.L34M	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.L34M	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	34						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TCAACAGCCTCTGGGTTCAAT	0.498000													21	84					2.37509e-13	2.66408e-13	1	1	0
SMG7	9887	broad.mit.edu	37	1	183514167	183514167	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:183514167A>T	ENST00000367537.3	+	17	2234	c.2039A>T	c.(2038-2040)cAg>cTg	p.Q680L	SMG7_ENST00000456731.2_Missense_Mutation_p.Q609L|SMG7_ENST00000507469.1_Missense_Mutation_p.Q651L|SMG7_ENST00000515829.2_Missense_Mutation_p.Q651L|SMG7_ENST00000347615.2_Missense_Mutation_p.Q697L|SMG7_ENST00000508461.1_Missense_Mutation_p.Q655L			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	697	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCTTTCTTCAGCCTACAGCT	0.552000													34	218					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55074719	55074719	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:55074719C>G	ENST00000343744.2	+	16	1801	c.1719C>G	c.(1717-1719)ttC>ttG	p.F573L	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_147161.3	NP_671517.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	0	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ACACCACCTTCAAGGCTTGTG	0.577000													38	94					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13227039	13227039	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:13227039C>T	ENST00000592062.1	-	3	745	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.E59K|TRMT1_ENST00000221504.8_Missense_Mutation_p.E59K|TRMT1_ENST00000437766.1_Missense_Mutation_p.E59K			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	59							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCAGCCCCCTCGGTGACTGTC	0.587000													25	90					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540051	169540051	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:169540051C>T	ENST00000340806.6	+	1	342	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	114										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGTCGTTGTCAGCTTCCTCC	0.607000													23	58					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147665	45147665	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:45147665G>C	ENST00000458659.2	-	1	3036	c.2546C>G	c.(2545-2547)aCa>aGa	p.T849R	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	849					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AACCAAGTTTGTTGGGGCAGA	0.433000													27	82					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224619446	224619446	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:224619446G>C	ENST00000414423.2	-	2	653	c.460C>G	c.(460-462)Cgt>Ggt	p.R154G	WDR26_ENST00000295024.6_Missense_Mutation_p.R7G|WDR26_ENST00000366852.2_Missense_Mutation_p.R154G	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	154	LisH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TGTTCTAAACGACATCCTGAC	0.418000													4	65					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721821	198721821	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:198721821C>T	ENST00000367376.2	+	31	3594	c.3423C>T	c.(3421-3423)gtC>gtT	p.V1141V	PTPRC_ENST00000352140.3_Silent_p.V1093V|PTPRC_ENST00000348564.6_Silent_p.V982V|PTPRC_ENST00000442510.2_Silent_p.V1143V|PTPRC_ENST00000594404.1_Silent_p.V980V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1141	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGATTCAGGTCGTCAAACAAA	0.448000													16	41					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812147	133812147	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:133812147G>A	ENST00000285928.2	+	1	96	c.27G>A	c.(25-27)ctG>ctA	p.L9L	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	9							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGCTCTCCTGAGGACCAGAG	0.602000													20	99					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87479049	87479049	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:87479049A>G	ENST00000517970.1	+	25	3003	c.2696A>G	c.(2695-2697)tAt>tGt	p.Y899C	WWP1_ENST00000265428.4_Missense_Mutation_p.Y899C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y769C|WWP1_ENST00000349423.2_Missense_Mutation_p.Y681C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	899	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTACCACCATATAAGAGTTAT	0.313000													12	71					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984695	3984695	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:3984695G>C	ENST00000381638.2	-	18	2928	c.2804C>G	c.(2803-2805)aCt>aGt	p.T935S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	935							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGAGACGAGAGTGTCCATGAC	0.532000													21	56					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75907339	75907339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:75907339C>A	ENST00000321027.3	-	12	1925	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.E560*|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	598					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TTACTAACTTCATTTTCACAA	0.328000													7	40					0.00307968	0.00313278	1	1	0
PPP4C	5531	broad.mit.edu	37	16	30095999	30095999	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:30095999G>T	ENST00000279387.7	+	8	785	c.617G>T	c.(616-618)tGg>tTg	p.W206L	PPP4C_ENST00000561610.1_Missense_Mutation_p.W206L	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	206					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						ACCACAGGCTGGGGCGTGAGC	0.632000													16	100					4.7546e-09	5.25321e-09	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123516420	123516420	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:123516420C>T	ENST00000392770.2	-	2	896	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SCN3B_ENST00000530277.1_Missense_Mutation_p.E32K|SCN3B_ENST00000299333.3_Missense_Mutation_p.E32K	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	32	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCCTCCGTCTCCGAGGGCACT	0.612000													12	50					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583845	118583845	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:118583845G>A	ENST00000263239.2	+	11	1650	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	508	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCACCAAAGGAATATATTCA	0.463000													5	15					0	0	1	0	0
NEIL2	252969	broad.mit.edu	37	8	11637387	11637387	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:11637387G>A	ENST00000284503.6	+	3	1018	c.419G>A	c.(418-420)aGc>aAc	p.S140N	NEIL2_ENST00000436750.3_Missense_Mutation_p.S140N|NEIL2_ENST00000455213.2_Missense_Mutation_p.S140N|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.S79N	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	140					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTGTTTGGCAGCGTTTGGGTG	0.567000								Base excision repair (BER), DNA glycosylases					4	58					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580734	40580734	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:40580734G>A	ENST00000450241.2	-	6	1824	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R539C|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R540C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R540C|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R539C|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAACCACGACGAAAGAATTTC	0.388000													32	121					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790470	194790470	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:194790470A>T	ENST00000310380.6	-	4	1264	c.1156T>A	c.(1156-1158)Tgc>Agc	p.C386S	XXYLT1_ENST00000429994.1_Missense_Mutation_p.C240S|XXYLT1_ENST00000355729.4_Missense_Mutation_p.C183S|XXYLT1_ENST00000356740.5_Missense_Mutation_p.C180S|XXYLT1_ENST00000437101.1_Missense_Mutation_p.C183S|XXYLT1_ENST00000460582.1_5'UTR	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	386						integral to membrane	transferase activity, transferring glycosyl groups										GGAGTGTTGCAGTTCCCGTGG	0.632000													6	114					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52385735	52385735	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:52385735G>A	ENST00000257963.4	+	8	1427	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	ACVR1B_ENST00000541224.1_Silent_p.Q491Q|ACVR1B_ENST00000542485.1_Silent_p.Q398Q|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000426655.2_Silent_p.Q450Q	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	450	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TATGTGATCAGAAGCTGCGTC	0.493000													17	83					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139047	145139047	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:145139047G>A	ENST00000355091.4	+	6	748	c.627G>A	c.(625-627)tcG>tcA	p.S209S	GPAA1_ENST00000527144.1_Intron|GPAA1_ENST00000361036.6_Silent_p.S149S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	209					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGCAGTCGTCTCCCCTGC	0.627000													9	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447897	179447897	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:179447897C>T	ENST00000589042.1	-	313	65857	c.65633G>A	c.(65632-65634)gGa>gAa	p.G21878E	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12938E|TTN_ENST00000342175.6_Missense_Mutation_p.G13005E|TTN_ENST00000591111.1_Missense_Mutation_p.G20237E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12813E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19310E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20237	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATTAGTTCCAGCTTTCAC	0.408000													6	26					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254553	9254553	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr18:9254553G>C	ENST00000262126.4	+	9	1528	c.1288G>C	c.(1288-1290)Gat>Cat	p.D430H	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D407H|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D407H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTCTGATGAAGAAGC	0.318000													31	84					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234565319	234565319	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:234565319G>A	ENST00000040877.1	-	16	2713	c.2714C>T	c.(2713-2715)aCc>aTc	p.T905I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	905					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGGTATAAGGGTGTGATATTT	0.433000													20	70					0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	7003614	7003614	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:7003614G>A	ENST00000256722.5	-	2	770	c.771C>T	c.(769-771)atC>atT	p.I257I	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Silent_p.I257I|CMPK2_ENST00000404168.1_Silent_p.I257I	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	257					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.I257I(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCAGTCCTTCGATGGCAACAA	0.448000													53	45					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346278	135346278	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:135346278A>T	ENST00000463117.2	+	7	1003	c.731A>T	c.(730-732)gAg>gTg	p.E244V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.E244V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	244					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGTAAAAGAGTATGTGTCT	0.463000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				31	98					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCTGAAAGGCTTTGAGATAC	0.468000													5	75					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41222206	41222206	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:41222206C>T	ENST00000249749.5	+	2	504	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	76					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGCACCTTCGGGACCGTCT	0.657000													5	18					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38698711	38698711	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:38698711C>T	ENST00000261438.5	+	6	1170	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	289					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGGAGAAAAACCCTACAAATG	0.353000													14	45					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47030649	47030649	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:47030649G>A	ENST00000377604.3	+	4	1166	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	142	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCAGCCACTGAGGATGACGT	0.652000													14	3					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56119741	56119741	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr14:56119741C>G	ENST00000416613.1	+	26	2773	c.2701C>G	c.(2701-2703)Caa>Gaa	p.Q901E	KTN1_ENST00000395311.1_Missense_Mutation_p.Q878E|KTN1_ENST00000395308.1_Missense_Mutation_p.Q878E|KTN1_ENST00000438792.2_Missense_Mutation_p.Q901E|KTN1_ENST00000554507.1_Missense_Mutation_p.Q196E|KTN1_ENST00000395314.3_Missense_Mutation_p.Q901E|KTN1_ENST00000395309.3_Missense_Mutation_p.Q901E|KTN1_ENST00000413890.2_Missense_Mutation_p.Q878E			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	901					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAAGGATCTTCAAGAAGAAAA	0.289000			T	RET	papillary thryoid								29	103					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703552	60703552	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:60703552C>T	ENST00000005286.4	+	11	2401	c.2248C>T	c.(2248-2250)Cgc>Tgc	p.R750C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R749C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	749	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGCCCTGCCGCCGGGGCCG	0.751000													3	17					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39079320	39079320	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:39079320A>T	ENST00000331366.5	-	16	1339	c.1243T>A	c.(1243-1245)Ttt>Att	p.F415I	CPNE8_ENST00000538596.2_Missense_Mutation_p.F84I|CPNE8_ENST00000360449.3_Missense_Mutation_p.F403I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	415	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACAGGAGCAAAGTTGGTGGGC	0.433000													18	82					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910298	184910298	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:184910298C>T	ENST00000231887.3	-	7	1963	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	EHHADH_ENST00000456310.1_Missense_Mutation_p.E534K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	630						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CGGAATGCTTCATTGATAAGT	0.453000													9	163					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:7578463C>G	ENST00000420246.2	-	5	599	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000269305.4_Missense_Mutation_p.R156P|TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCGCGGACGCGGGTGCCGGG	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	32					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275348	29275348	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:29275348C>T	ENST00000377160.2	+	1	946	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GGAATGATTCCATGAAGGCAG	0.408000													78	124					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945741	17945741	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:17945741C>G	ENST00000458235.1	-	16	2218	c.2119G>C	c.(2119-2121)Gac>Cac	p.D707H	JAK3_ENST00000527670.1_Missense_Mutation_p.D707H|JAK3_ENST00000534444.1_Missense_Mutation_p.D707H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	707	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCCCACTTGTCAGCTTCCAAG	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								16	59					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40262908	40262908	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:40262908C>T	ENST00000251642.3	-	5	616	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	132	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGCACTCATCCACCACG	0.562000													20	48					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024849	76024849	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:76024849G>A	ENST00000393004.2	-	5	920	c.699C>T	c.(697-699)ctC>ctT	p.L233L	FILIP1_ENST00000370020.1_Silent_p.L134L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.L233L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	233										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTAGTTTATTGAGTCGTTTAG	0.358000													19	59					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065244	57065244	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:57065244C>G	ENST00000301318.3	+	8	1161	c.1090C>G	c.(1090-1092)Cat>Gat	p.H364D	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCCAATTACTCATAACAAAAC	0.383000													13	21					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540585	94540585	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:94540585C>G	ENST00000289495.5	+	1	1376	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.S387*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.S387*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.S387*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.S387*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.S387*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	387						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGAAGATTCAAATAATTTT	0.448000										HNSCC(28;0.073)			6	32					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141489055	141489055	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:141489055G>C	ENST00000262999.3	-	2	278	c.203C>G	c.(202-204)aCa>aGa	p.T68R		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	68					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	p.T68K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CCGCCCTTCTGTTTTTACCAC	0.547000													26	67					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911087	100911087	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:100911087C>A	ENST00000328766.5	-	5	1941	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	ARMCX2_ENST00000330154.2_Missense_Mutation_p.M496I|ARMCX2_ENST00000356824.4_Missense_Mutation_p.M496I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	496						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TAGTAATAGTCATGTTTGTTA	0.398000													8	85					0.00307968	0.00313278	1	1	0
UCKL1	54963	broad.mit.edu	37	20	62572546	62572546	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:62572546C>T	ENST00000358711.3	-	8	965	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	UCKL1_ENST00000354216.6_Silent_p.S313S|UCKL1_ENST00000369908.5_Silent_p.S298S|UCKL1_ENST00000369892.3_Silent_p.S313S			Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	0					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACTGGTGTGCCGAGGCCAGCG	0.667000													3	9					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542963	14542963	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr18:14542963C>A	ENST00000358970.5	-	1	182	c.183G>T	c.(181-183)atG>atT	p.M61I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577000													17	252					4.96729e-08	5.38732e-08	1	1	0
MSRB2	22921	broad.mit.edu	37	10	23399245	23399245	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:23399245C>T	ENST00000376510.3	+	3	397	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	98					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTCCACTCTTCAGGTAAGATA	0.398000													12	55					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373153	59373153	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:59373153C>G	ENST00000348370.4	+	8	2400	c.1967C>G	c.(1966-1968)cCa>cGa	p.P656R	RNF111_ENST00000559209.1_Missense_Mutation_p.P656R|RNF111_ENST00000557998.1_Missense_Mutation_p.P656R|RNF111_ENST00000434298.1_Missense_Mutation_p.P656R|RNF111_ENST00000561186.1_Missense_Mutation_p.P656R	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	656	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGACAAGGCCACTTCATCAT	0.433000													16	75					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466680	164466680	+	Silent	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:164466680T>C	ENST00000333129.3	-	3	1976	c.1662A>G	c.(1660-1662)ggA>ggG	p.G554G	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	554						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGGCGACTAGTCCAGAACCGG	0.488000													12	26					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206581043	206581043	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:206581043C>T	ENST00000360409.3	+	3	1169	c.378C>T	c.(376-378)tcC>tcT	p.S126S	NRP2_ENST00000540178.1_Silent_p.S126S|NRP2_ENST00000417189.1_Silent_p.S126S|NRP2_ENST00000357785.5_Silent_p.S126S|NRP2_ENST00000357118.4_Silent_p.S126S|NRP2_ENST00000272849.3_Silent_p.S126S|NRP2_ENST00000412873.2_Silent_p.S126S|NRP2_ENST00000355117.4_Silent_p.S126S|NRP2_ENST00000540841.1_Silent_p.S126S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	126	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTTCACCTCCGACTACGCCC	0.612000													14	54					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44581705	44581705	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr22:44581705C>T	ENST00000444313.3	+	4	581	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	PARVG_ENST00000422871.1_Silent_p.L33L|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Silent_p.L33L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAGAAATACCTGCCACCCAC	0.582000													6	13					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202894326	202894326	+	Translation_Start_Site	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:202894326G>C	ENST00000367261.3	-	0	183				KLHL12_ENST00000435533.3_Missense_Mutation_p.P27A	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12						Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGGGTCCTTGGATTCTGCAAC	0.373000													4	21					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122005742	122005742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:122005742G>A	ENST00000263707.5	-	5	599	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	168					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGCCCACCTGAATGAATGCA	0.572000													7	14					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208072572	208072572	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:208072572C>G	ENST00000356522.4	-	3	584		c.e3-1		CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Splice_Site	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule						cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGTCGTTTCTGGAAGAGAC	0.428000													24	91					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110712638	110712638	+	Silent	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:110712638T>C	ENST00000282356.4	+	4	782	c.384T>C	c.(382-384)gaT>gaC	p.D128D	CAMK4_ENST00000512453.1_Silent_p.D128D	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	128	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AACTGTTTGATAGGTGAGTTG	0.353000													27	49					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351392	44351392	+	Silent	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:44351392G>T	ENST00000324461.7	+	7	936	c.639G>T	c.(637-639)ggG>ggT	p.G213G	ZNF283_ENST00000588797.1_Silent_p.G74G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGGAATGTGGGAAGGCTTGCA	0.338000													9	46					1.76689e-08	1.93049e-08	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450336	85450336	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:85450336G>C	ENST00000393217.2	+	8	1826	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	589										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTAGAAAAAGAAGAGATACA	0.289000													8	21					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884959	36884959	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:36884959C>T	ENST00000392161.3	-	5	525	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATTTATTTCATAAATGTCA	0.303000													14	99					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762053	105762053	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:105762053G>A	ENST00000369755.3	+	9	1662	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	SLK_ENST00000335753.4_Missense_Mutation_p.E373K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	373	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAGTAACTCTGAAGATAAACT	0.368000													5	139					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803437	113803437	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:113803437C>T	ENST00000375559.3	+	8	1111	c.1073C>T	c.(1072-1074)aCg>aTg	p.T358M	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	358	Peptidase S1.		T -> M (in FA10D; Roma).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGCAGAAGACGGGGATTGTG	0.662000													9	27					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43268992	43268992	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:43268992A>G	ENST00000372585.5	+	6	1042	c.947A>G	c.(946-948)cAg>cGg	p.Q316R	SLC22A7_ENST00000372574.3_Missense_Mutation_p.Q314R|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.Q314R	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	316						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGCTTCAGCCAGGAGGTGAGG	0.587000													16	72					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413693	178413693	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:178413693G>A	ENST00000231188.5	-	8	1740	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	GRM6_ENST00000517717.1_Missense_Mutation_p.P521L|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	521					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677000													6	20					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	179008	179008	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr18:179008G>T	ENST00000261601.7	+	4	362	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	USP14_ENST00000582707.1_Intron|USP14_ENST00000383589.2_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.D80Y	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCGTAGAAGACATGACAGA	0.378000													12	45					1.61879e-10	1.79528e-10	1	1	0
PCID2	55795	broad.mit.edu	37	13	113851462	113851462	+	Missense_Mutation	SNP	G	G	A	rs140418080	byFrequency	TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:113851462G>A	ENST00000246505.5	-	4	330	c.296C>T	c.(295-297)cCg>cTg	p.P99L	PCID2_ENST00000375479.2_Intron|PCID2_ENST00000375457.2_Intron|PCID2_ENST00000337344.4_Intron|PCID2_ENST00000375459.1_Intron|PCID2_ENST00000375477.1_Intron	NM_001258212.1	NP_001245141.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	76					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	p.P99Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGTTCTATGCGGGACAGCTGC	0.478000													29	114					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9009379	9009379	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:9009379G>C	ENST00000344836.4	-	9	1108	c.910C>G	c.(910-912)Ctc>Gtc	p.L304V	USP7_ENST00000535863.1_Missense_Mutation_p.L205V|USP7_ENST00000381886.4_Missense_Mutation_p.L288V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	304					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACATTATCGAGCAACTGAAAA	0.328000													9	102					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197702971	197702971	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:197702971C>G	ENST00000330198.4	+	4	442	c.420C>G	c.(418-420)atC>atG	p.I140M	LMLN_ENST00000482695.1_Missense_Mutation_p.I88M|LMLN_ENST00000332636.5_Missense_Mutation_p.I88M|LMLN_ENST00000420910.2_Missense_Mutation_p.I140M	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	140					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGGGCACTATCTTACTTAGCA	0.373000													13	59					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622071	61622071	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:61622071G>C	ENST00000398571.2	-	5	746	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	224					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCTTCATGAGAGAAAGGCCA	0.333000													10	46					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Splice_Site	SNP	C	C	T	rs3092891		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	31					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	218992	218992	+	Missense_Mutation	SNP	T	T	A	rs142989700	by1000genomes	TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:218992T>A	ENST00000403657.1	-	12	2698	c.503A>T	c.(502-504)aAt>aTt	p.N168I	SH3YL1_ENST00000405430.1_Missense_Mutation_p.N283I|SH3YL1_ENST00000403712.2_Missense_Mutation_p.N264I|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403658.1_Missense_Mutation_p.N168I|SH3YL1_ENST00000356150.5_Missense_Mutation_p.N283I|SH3YL1_ENST00000415006.2_Missense_Mutation_p.N187I			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	283										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TATGGGTTGATTCAAATTGCC	0.378000													18	35					0	0	1	0	0
SAA4	6291	broad.mit.edu	37	11	18253131	18253131	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:18253131G>A	ENST00000278222.4	-	4	491	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						TTTCTCGTTGGACTTCGAGTC	0.517000													16	28					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													4	72					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73437255	73437255	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:73437255C>T	ENST00000224721.6	+	15	1577	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A	CDH23_ENST00000299366.7_Silent_p.A564A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	519	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGCTGATTGCCAGGCTGGACT	0.587000													3	21					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814182	248814182	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:248814182C>T	ENST00000344889.3	-	1	3	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCTCTGCTCCATAGCTCTG	0.428000													3	13					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842069	1842069	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:1842069G>A	ENST00000415638.3	-	2	543	c.464C>T	c.(463-465)gCg>gTg	p.A155V	IGFALS_ENST00000215539.3_Missense_Mutation_p.A117V|IGFALS_ENST00000568221.1_Missense_Mutation_p.R128C	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	117					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCCCAGCAGCGCCTGTGGCTC	0.687000													2	1					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2847185	2847185	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:2847185A>C	ENST00000380445.3	+	24	2557	c.2485A>C	c.(2485-2487)Att>Ctt	p.I829L	PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.I515L|VPS16_ENST00000380469.3_Missense_Mutation_p.I685L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	829					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTGACAAGATTCAACGGGC	0.592000													24	67					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174506	207174506	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:207174506T>G	ENST00000374423.3	+	5	5640	c.5254T>G	c.(5254-5256)Tgt>Ggt	p.C1752G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1752							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAATTTTCAGTGTGCTCCCCC	0.413000													9	22					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42957998	42957998	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:42957998G>A	ENST00000426333.2	-	8	840	c.543C>T	c.(541-543)atC>atT	p.I181I	EFTUD2_ENST00000402521.3_Silent_p.I146I|EFTUD2_ENST00000591382.1_Silent_p.I181I|EFTUD2_ENST00000592576.1_Silent_p.I171I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	181						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GAGTGCTTTTGATGCCTACAC	0.443000													26	88					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424812	121424812	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:121424812C>T	ENST00000260197.7	+	17	2562	c.2433C>T	c.(2431-2433)gtC>gtT	p.V811V		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	811					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTTGGACGTCATCCAGGTGA	0.572000													3	26					0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28598325	28598325	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:28598325C>T	ENST00000261714.6	-	10	1284	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	BLMH_ENST00000394819.3_Missense_Mutation_p.M283I	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	370					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TGGCGTGGGTCATAAGTGACT	0.458000													6	30					0	0	1	0	0
ANKRD23	200539	broad.mit.edu	37	2	97506631	97506631	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:97506631C>G	ENST00000318357.4	-	4	360	c.319G>C	c.(319-321)Gtg>Ctg	p.V107L	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.V107L|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	107						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						ACAGGCTCCACCTGGGCCTGG	0.587000													8	38					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689911	21689911	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:21689911C>T	ENST00000398485.2	+	4	1165	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	PAX1_ENST00000444366.2_Missense_Mutation_p.P347S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	371					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTGCGCCTACCCGGCCTCCAA	0.721000													18	71					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20828492	20828492	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:20828492G>A	ENST00000601440.1	-	3	370	c.224C>T	c.(223-225)tCa>tTa	p.S75L	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.S75L	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACACCTACCTGAGGGTTTGGC	0.438000													10	42					0	0	1	0	0
RAB23	51715	broad.mit.edu	37	6	57075166	57075166	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:57075166C>G	ENST00000317483.3	-	2	632	c.13G>C	c.(13-15)Gat>Cat	p.D5H	RAB23_ENST00000468148.1_Missense_Mutation_p.D5H	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	5					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTTCCATATCTTCCTCCAAC	0.368000													5	126					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15117187	15117187	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:15117187T>A	ENST00000253699.3	-	13	1745	c.1132A>T	c.(1132-1134)Acc>Tcc	p.T378S	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.T378S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	378	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGTTCTTTGGTTGGCAGTGAC	0.448000													14	58					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3665214	3665214	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:3665214C>G	ENST00000263087.4	-	4	408	c.310G>C	c.(310-312)Gtt>Ctt	p.V104L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	104					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCACCAAAACACCGTGGTGG	0.617000													3	19					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244826	1244826	+	RNA	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:1244826G>T	ENST00000581398.1	+	0	780				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						AGGGATGCAGGCCAGCCAGGG	0.567000													11	26					5.16669e-11	5.75159e-11	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152815128	152815128	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:152815128G>A	ENST00000370186.1	+	9	1796	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	ATP2B3_ENST00000393842.1_Silent_p.L490L|ATP2B3_ENST00000359149.3_Silent_p.L504L|ATP2B3_ENST00000263519.4_Silent_p.L504L|ATP2B3_ENST00000370181.2_Silent_p.L490L|ATP2B3_ENST00000349466.2_Silent_p.L504L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	504					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGCCCTGACCCCTAAGA	0.607000													25	17					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89597515	89597515	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:89597515A>G	ENST00000402738.1	+	18	2205	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	HERC3_ENST00000264345.3_Missense_Mutation_p.I656V|HERC3_ENST00000543130.1_Missense_Mutation_p.I100V	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	656					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CTACCCTTTCATCTTTGATGC	0.328000													9	49					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569580	76569580	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:76569580A>T	ENST00000307431.8	+	19	3276	c.2891A>T	c.(2890-2892)tAt>tTt	p.Y964F	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Y892F|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Y968F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Y916F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	965	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCAGCAGCTATGGGAAGTTA	0.498000													10	37					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64747223	64747223	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:64747223G>C	ENST00000261884.3	+	13	1766	c.1706G>C	c.(1705-1707)gGa>gCa	p.G569A		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	569					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATCCATCAAGGAGCAAAGAAG	0.378000													10	53					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069223	153069223	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:153069223C>A	ENST00000164640.4	-	8	2086	c.1895G>T	c.(1894-1896)gGa>gTa	p.G632V	PDZD4_ENST00000544474.1_Missense_Mutation_p.G523V|PDZD4_ENST00000393758.2_Missense_Mutation_p.G557V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	632						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGCGGGTTCCGTCGCTGCG	0.706000													25	24					3.08376e-08	3.35686e-08	1	1	0
GJA5	2702	broad.mit.edu	37	1	147231263	147231263	+	Silent	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:147231263G>C	ENST00000271348.2	-	2	245	c.84C>G	c.(82-84)gtC>gtG	p.V28V	GJA5_ENST00000369237.1_Silent_p.V28V	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	28					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATATGAAGAGGACAGTGAGCC	0.567000													4	52					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049350	67049350	+	Silent	SNP	C	C	T	rs149301931		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:67049350C>T	ENST00000315962.4	+	4	901	c.528C>T	c.(526-528)atC>atT	p.I176I	TRIM55_ENST00000353317.5_Silent_p.I176I|TRIM55_ENST00000350034.4_Silent_p.I176I|TRIM55_ENST00000276573.7_Silent_p.I176I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	176						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTGATGGCATCGCCATCCTCG	0.502000													7	20					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178591	38178591	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:38178591C>G	ENST00000407257.1	+	2	380	c.233C>G	c.(232-234)tCt>tGt	p.S78C	RMDN2_ENST00000234195.3_Missense_Mutation_p.S78C|RMDN2_ENST00000402091.3_Missense_Mutation_p.S78C|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		AGAAGATATTCTTTATTTGTT	0.343000													36	47					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997472	115997472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:115997472C>A	ENST00000264363.2	-	2	1399	c.721G>T	c.(721-723)Gaa>Taa	p.E241*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	241	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGGATTTTTCTGTCTGTAAC	0.433000													4	109					0.00024832	0.000259767	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149558883	149558883	+	Silent	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:149558883A>T	ENST00000223210.4	+	7	2879	c.2634A>T	c.(2632-2634)gcA>gcT	p.A878A	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCTACGTGGCACTGGAGAGCC	0.602000													8	22					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810169	38810169	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:38810169C>T	ENST00000420274.1	+	8	883	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R217C	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	217	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAGCTGGAAACGTCGCTTCTT	0.468000													8	10					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	465092	465092	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:465092A>G	ENST00000280886.6	-	6	739	c.652T>C	c.(652-654)Tcg>Ccg	p.S218P	DIP2C_ENST00000381496.3_Missense_Mutation_p.S111P	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	218						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCTGTATCGAGTGCTCTGAG	0.537000													18	123					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31571720	31571720	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:31571720C>T	ENST00000356173.3	-	13	1112	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	SUN5_ENST00000375523.3_Silent_p.V315V	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	340	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TTGAGATCTTCACCTTGACCG	0.607000													15	91					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21395848	21395848	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:21395848C>T	ENST00000400602.2	-	9	1203	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	XPO4_ENST00000255305.6_Missense_Mutation_p.E390K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	390					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTCACCACTTCTTCCAATGCA	0.388000													8	36					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42849017	42849017	+	Silent	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:42849017C>G	ENST00000200557.6	+	5	616	c.447C>G	c.(445-447)ctC>ctG	p.L149L	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	149					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCGCCGCCCTCTCCACCTGCC	0.677000													7	44					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029327	32029327	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:32029327C>T	ENST00000375244.3	-	21	7540	c.7339G>A	c.(7339-7341)Gac>Aac	p.D2447N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2447N			P22105	TENX_HUMAN	tenascin XB	2507					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTCCCTGTCCTTGTACTGC	0.662000													22	56					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341595	121341595	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:121341595C>T	ENST00000338040.4	+	3	1733	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	440					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGTTTTCCTCTGGGACAGTG	0.522000													4	96					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869384	50869384	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:50869384C>A	ENST00000398473.2	+	16	2024	c.1912C>A	c.(1912-1914)Cta>Ata	p.L638I	LARP4_ENST00000429001.3_Missense_Mutation_p.L644I|LARP4_ENST00000293618.8_Missense_Mutation_p.L567I|LARP4_ENST00000347328.5_Missense_Mutation_p.L567I|LARP4_ENST00000518444.1_Missense_Mutation_p.L637I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	638							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGTGCAGCCACTACGGGAACT	0.463000													10	225					1.11149e-13	1.25149e-13	1	1	0
CELA2B	51032	broad.mit.edu	37	1	15812539	15812539	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:15812539A>T	ENST00000375910.3	+	6	662	c.637A>T	c.(637-639)Aac>Tac	p.N213Y		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	213	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						ATGCACCTGCAACGTGAGTAC	0.562000													7	153					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11397272	11397272	+	Silent	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:11397272T>C	ENST00000304623.8	-	6	672	c.483A>G	c.(481-483)aaA>aaG	p.K161K	CTNND2_ENST00000359640.2_Silent_p.K161K|CTNND2_ENST00000511377.1_Silent_p.K70K|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	161					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCCTTCAGGTTTGGAATTGA	0.557000													10	32					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200613642	200613642	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:200613642C>T	ENST00000331314.6	-	8	1813	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	534	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CCTACTCTTCCAATCTGAAAT	0.308000													10	45					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70119082	70119082	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:70119082G>A	ENST00000245479.2	+	2	1026	c.654G>A	c.(652-654)atG>atA	p.M218I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	218					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCTCCGGCATGAGCGAGGTGC	0.706000													14	64					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163164	161163164	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:161163164C>G	ENST00000367996.5	-	7	2178	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTGCTCCTCGCGGAAGGTC	0.617000													9	99					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:146351187C>T	ENST00000392299.2	+	2	1004	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCAGCTCTTCGACATCCCCC	0.542000													42	82					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41196033	41196033	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:41196033G>C	ENST00000263413.3	-	5	712	c.448C>G	c.(448-450)Cgc>Ggc	p.R150G	C6_ENST00000337836.5_Missense_Mutation_p.R150G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	150	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAATGCAGCGGCCTAGTCAA	0.358000													7	41					0	0	1	0	0
ACP2	53	broad.mit.edu	37	11	47267027	47267027	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:47267027C>T	ENST00000256997.3	-	5	663	c.547G>A	c.(547-549)Gca>Aca	p.A183T	ACP2_ENST00000533929.1_Missense_Mutation_p.A155T|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000537863.1_Intron|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000527256.1_Missense_Mutation_p.A151T	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	183						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCACTCACTGCATTCCGAGAA	0.547000													15	50					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319165	19319165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:19319165G>T	ENST00000461366.1	+	14	1788	c.1573G>T	c.(1573-1575)Gaa>Taa	p.E525*		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	525							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGAGGCACTGGAAGCTGAGCT	0.627000													6	24					1	1	1	1	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100998	27100998	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:27100998G>T	ENST00000359193.2	+	1	167	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	50					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGGCGCGCCGGTGTATCTGGC	0.682000													10	49					7.03913e-09	7.71949e-09	1	1	0
CRTC1	23373	broad.mit.edu	37	19	18870884	18870884	+	Silent	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:18870884G>T	ENST00000338797.6	+	9	805	c.780G>T	c.(778-780)ggG>ggT	p.G260G	CRTC1_ENST00000594658.1_Silent_p.G203G|CRTC1_ENST00000601916.1_Silent_p.G169G|CRTC1_ENST00000321949.8_Silent_p.G244G	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	244					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACACAGGGGGGTCCCTGCCCG	0.662000													12	73					9.31168e-06	9.91677e-06	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86377301	86377301	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:86377301G>A	ENST00000604798.1	-	7	1499	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	MGAT4C_ENST00000332156.1_Splice_Site_p.R99W|MGAT4C_ENST00000549405.2_Splice_Site_p.R99W|MGAT4C_ENST00000552435.2_Splice_Site_p.P99S|MGAT4C_ENST00000552808.2_Splice_Site_p.R99W|MGAT4C_ENST00000548651.1_Splice_Site_p.R99W|MGAT4C_ENST00000393205.2_Splice_Site_p.R128W			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	99					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGATACTTACGCTTTCTTTGT	0.313000													16	72					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27237896	27237896	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:27237896T>A	ENST00000222753.4	-	2	1116	c.1088A>T	c.(1087-1089)gAg>gTg	p.E363V		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	363					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GACCTGCCGCTCAGAGAGATT	0.413000			T	NUP98	AML								23	166					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87689001	87689001	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:87689001C>G	ENST00000436978.1	+	28	4856	c.4376C>G	c.(4375-4377)tCt>tGt	p.S1459C	PTPN13_ENST00000411767.2_Missense_Mutation_p.S1454C|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1459C|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1263C|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1435C	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1454						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGGGACAATCTCCAACATCT	0.378000													3	10					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905628	129905628	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:129905628T>C	ENST00000368654.3	-	13	4851	c.4476A>G	c.(4474-4476)atA>atG	p.I1492M	MKI67_ENST00000368653.3_Missense_Mutation_p.I1132M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1492	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTGCAGGCTATTTTGGTAG	0.502000													16	259					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369949	126369949	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:126369949C>G	ENST00000394329.3	+	9	7791	c.7778C>G	c.(7777-7779)tCt>tGt	p.S2593C	FAT4_ENST00000335110.5_Missense_Mutation_p.S891C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2593	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGATCCTCTTTAAGAGGA	0.423000													5	20					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	92					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219414542	219414542	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:219414542G>C	ENST00000258399.3	-	6	831	c.419C>G	c.(418-420)tCa>tGa	p.S140*	USP37_ENST00000418019.1_Nonsense_Mutation_p.S140*|USP37_ENST00000415516.1_Nonsense_Mutation_p.S68*|USP37_ENST00000454775.1_Nonsense_Mutation_p.S140*|USP37_ENST00000338465.5_Nonsense_Mutation_p.S140*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	140					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGATTGTCTGAGTAAGAAAG	0.483000													6	37					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469615	120469615	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:120469615C>G	ENST00000283875.5	+	2	309	c.216C>G	c.(214-216)atC>atG	p.I72M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	72	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACAAGTTTATCAAATGCAGAA	0.403000													33	51					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46287491	46287491	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:46287491G>C	ENST00000334344.6	+	20	5522	c.5350G>C	c.(5350-5352)Gaa>Caa	p.E1784Q	ARID2_ENST00000422737.1_Missense_Mutation_p.E1635Q|ARID2_ENST00000444670.1_Missense_Mutation_p.E1394Q|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.E392Q	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1784					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAATATTCAGAATGTGGTCG	0.269000			"""N, S, F"""		hepatocellular carcinoma								15	81					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47376865	47376865	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:47376865C>A	ENST00000378538.3	-	5	948	c.726G>T	c.(724-726)aaG>aaT	p.K242N	SPI1_ENST00000227163.4_Missense_Mutation_p.K243N|SPI1_ENST00000533030.1_3'UTR	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	242					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTTCACCTTCTTGACCTCGC	0.682000													9	11					3.09899e-07	3.34872e-07	1	1	0
AMPD3	272	broad.mit.edu	37	11	10518419	10518419	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:10518419C>T	ENST00000444303.2	+	9	1486	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	AMPD3_ENST00000396554.3_Silent_p.F506F	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	497					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAACATCTTCCTGCCCCTTT	0.498000													18	51					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737112	145737112	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:145737112C>T	ENST00000428558.2	-	21	3495	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1152					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AACTTCTCCTCTGGCCTCAGG	0.672000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				11	73					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205211077	205211077	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:205211077C>T	ENST00000358024.3	+	2	1041	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.P140S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	218						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGTGCCGTCCCCGCTCTTC	0.687000													5	11					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026973	2026973	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:2026973C>T	ENST00000262113.4	+	12	1562	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	474	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCTCTGATGCGGTGGCTGCA	0.537000													4	187					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3424387	3424387	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:3424387C>T	ENST00000356575.4	-	14	1987	c.1761G>A	c.(1759-1761)ccG>ccA	p.P587P	MEGF6_ENST00000294599.4_Silent_p.P482P	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	587	EGF-like 10.		P -> L (in dbSNP:rs947345).			extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACTGACACCCGGGGGGCAGC	0.607000													7	65					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731191	6731191	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:6731191C>G	ENST00000405858.1	-	5	1923	c.1382G>C	c.(1381-1383)gGa>gCa	p.G461A	ZNF12_ENST00000342651.5_Missense_Mutation_p.G423A|ZNF12_ENST00000404360.1_Missense_Mutation_p.G387A|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	461					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTTTCTCTCCTGAATGAGT	0.418000													18	46					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524482	55524482	+	Silent	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:55524482T>C	ENST00000305377.5	+	1	1018	c.930T>C	c.(928-930)ccT>ccC	p.P310P		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTTGAATCCTTTGATTTACT	0.353000													5	134					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24902173	24902173	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr14:24902173C>T	ENST00000251343.5	+	5	1651	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	KHNYN_ENST00000554268.1_5'UTR|KHNYN_ENST00000556842.1_Silent_p.L504L|KHNYN_ENST00000553935.1_Silent_p.L504L			O15037	KHNYN_HUMAN	KH and NYN domain containing	504										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGTATTCCCTCAGCCTGCTCT	0.493000													19	47					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97561929	97561929	+	Missense_Mutation	SNP	G	G	A	rs140246562		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:97561929G>A	ENST00000369261.4	+	7	1261	c.898G>A	c.(898-900)Gag>Aag	p.E300K	KLHL32_ENST00000536676.1_Missense_Mutation_p.E264K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.E231K	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	300								p.E300K(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAAAAAGCGCGAGGTCTGCAA	0.517000													10	40					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73944483	73944483	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:73944483C>T	ENST00000358602.4	-	31	7400	c.7284G>A	c.(7282-7284)ggG>ggA	p.G2428G	ANKRD17_ENST00000509867.2_Silent_p.G2315G|ANKRD17_ENST00000330838.6_Silent_p.G2177G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2428					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACGTTCAGTCCCAATAGGGA	0.507000													17	44					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437572	201437572	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:201437572G>A	ENST00000367311.3	-	1	740	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PHLDA3_ENST00000367309.1_Missense_Mutation_p.R115W|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	115	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						TGCCGGGCCCGCACTGTCTGG	0.632000													4	92					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214549651	214549651	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:214549651G>A	ENST00000366956.5	-	15	3012	c.2818C>T	c.(2818-2820)Cgt>Tgt	p.R940C	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	940	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACAACTTCACGGATTCGGCTG	0.463000													18	64					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27448119	27448119	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:27448119G>A	ENST00000527372.1	-	6	1662	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	MYO18A_ENST00000533112.1_Silent_p.I494I|MYO18A_ENST00000531253.1_Silent_p.I494I|MYO18A_ENST00000354329.4_Silent_p.I494I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	494	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGGAGGATGATTGACTGAT	0.592000													6	16					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409085	33409085	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:33409085C>T	ENST00000418600.2	+	12	2150	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	SYNGAP1_ENST00000293748.5_Silent_p.I683I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.I624I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	683					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGGGTTACATCGACTTGGGCC	0.537000													8	65					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540084	169540084	+	Silent	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:169540084C>G	ENST00000340806.6	+	1	375	c.375C>G	c.(373-375)ctC>ctG	p.L125L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	125										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGCTCCGGCTCTACCAGACCG	0.577000													23	45					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143777	91143777	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:91143777G>T	ENST00000371809.3	+	2	787	c.707G>T	c.(706-708)gGa>gTa	p.G236V	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	236							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GAAGCTGAAGGAGAAAAGTAC	0.428000													10	194					0.000442599	0.000459742	1	1	0
MAOA	4128	broad.mit.edu	37	X	43590500	43590500	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:43590500G>A	ENST00000338702.3	+	7	781	c.658G>A	c.(658-660)Gta>Ata	p.V220I	MAOA_ENST00000542639.1_Missense_Mutation_p.V87I|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	220					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	ACGGAAGTTTGTAGGTGGATC	0.468000													13	19					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403565	54403565	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:54403565G>A	ENST00000263431.3	+	12	1642	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PRKCG_ENST00000542049.1_Missense_Mutation_p.E341K|PRKCG_ENST00000540413.1_Missense_Mutation_p.E454K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	454	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGTTTAAGGAGCCCCATGC	0.592000													9	23					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													3	44					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32961879	32961879	+	Missense_Mutation	SNP	C	C	A	rs140959400		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:32961879C>A	ENST00000321639.5	+	8	1808	c.1480C>A	c.(1480-1482)Cgt>Agt	p.R494S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	494						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGTGCAAGCCGTGGCTGCAC	0.617000													3	23					0.004672	0.00473622	1	1	0
LYG2	254773	broad.mit.edu	37	2	99858916	99858916	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:99858916C>G	ENST00000333017.2	-	6	662	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	LYG2_ENST00000409238.1_Missense_Mutation_p.E184Q|LYG2_ENST00000423800.1_3'UTR	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	184					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GCAATCGCTTCAATTCCTGAC	0.398000													33	114					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456982	25456982	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:25456982C>T	ENST00000278886.6	-	17	3018	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	982					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTTCGTGCTCGCTCTTCCTG	0.692000													10	36					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981719	70981719	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:70981719C>T	ENST00000276594.2	-	2	578	c.377G>A	c.(376-378)aGt>aAt	p.S126N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGATCTTCACTGCTGGCACC	0.612000													5	25					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571283	86571283	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:86571283G>A	ENST00000376344.3	-	1	349	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	45										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCCTCCACGCGCAGCTCTGGC	0.607000													8	37					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61466810	61466810	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:61466810G>A	ENST00000424789.2	+	15	2738	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	TANC2_ENST00000389520.4_Missense_Mutation_p.D912N|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	912							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGCCAACGTGGATGCCTCTTC	0.527000													3	17					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906442	144906442	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:144906442C>T	ENST00000370490.1	+	1	6754	c.2499C>T	c.(2497-2499)ctC>ctT	p.L833L	SLITRK2_ENST00000447897.2_Silent_p.L833L|SLITRK2_ENST00000434188.2_Silent_p.L833L|SLITRK2_ENST00000428560.2_Silent_p.L833L|SLITRK2_ENST00000413937.2_Silent_p.L833L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	833						integral to membrane		p.L833L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACTACCTCGAAGTTCTGG	0.463000													18	26					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924457	43924457	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:43924457C>G	ENST00000396879.1	-	13	1607	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	CATSPER2_ENST00000354127.4_Missense_Mutation_p.E499Q|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000321596.5_Missense_Mutation_p.E501Q|CATSPER2_ENST00000381761.1_Missense_Mutation_p.E505Q|STRC_ENST00000541030.1_Intron	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	501					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCTAGCAACTCAAAATATCGG	0.458000													12	49					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37555013	37555013	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:37555013G>C	ENST00000217429.4	+	1	59	c.18G>C	c.(16-18)ttG>ttC	p.L6F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	0					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GGGCCTGTTTGATTCAAAGGT	0.652000											OREG0025936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738236	145738236	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:145738236C>G	ENST00000428558.2	-	16	2790	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	917					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCACCCTCCTCCGGCATGTCC	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	10					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182920577	182920577	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:182920577C>T	ENST00000367547.3	-	2	667	c.431G>A	c.(430-432)gGt>gAt	p.G144D	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G25D	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	216										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TAGGTATTTACCCATAACTTC	0.294000													5	106					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902829	16902829	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:16902829C>T	ENST00000430580.2	-	19	2939	c.2052G>A	c.(2050-2052)caG>caA	p.Q684Q	NBPF1_ENST00000287968.8_Silent_p.Q49Q|NBPF1_ENST00000432949.1_Silent_p.Q142Q	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	684						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)		CTTGGAGGTCCTGCCCCTGGG	0.572000													8	806					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518588	73518588	+	Silent	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:73518588G>C	ENST00000436467.2	-	2	1845	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	EGR4_ENST00000545030.1_Silent_p.L589L			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	485						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTCTTGCTCAGAGAGAAGCGA	0.647000													3	18					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029325	32029325	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:32029325G>A	ENST00000375244.3	-	21	7542	c.7341C>T	c.(7339-7341)gaC>gaT	p.D2447D	TNXB_ENST00000375247.2_Silent_p.D2447D			P22105	TENX_HUMAN	tenascin XB	2507					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCGTCCCTGTCCTTGTACT	0.657000													22	57					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171008322	171008322	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr4:171008322C>G	ENST00000337664.4	-	3	590	c.314G>C	c.(313-315)aGt>aCt	p.S105T	AADAT_ENST00000515480.1_Missense_Mutation_p.S105T|AADAT_ENST00000353187.2_Missense_Mutation_p.S105T|AADAT_ENST00000509167.1_Missense_Mutation_p.S109T	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	105					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGTCCTTGACTGGGTGGGTA	0.378000													19	83					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390736	197390736	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:197390736C>T	ENST00000367400.3	+	6	1913	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	CRB1_ENST00000535699.1_Missense_Mutation_p.A524V|CRB1_ENST00000538660.1_Missense_Mutation_p.A593V|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.A74V|CRB1_ENST00000367399.2_Missense_Mutation_p.A481V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	593	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAATGCATCGCGAAAGCTCCT	0.463000													23	108					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	354320	354320	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:354320A>C	ENST00000262320.3	-	5	1609	c.1238T>G	c.(1237-1239)cTg>cGg	p.L413R	AXIN1_ENST00000354866.3_Missense_Mutation_p.L413R|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	413	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACGCGCTTCAGCCGCTCCTC	0.672000													5	17					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231334897	231334897	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:231334897G>C	ENST00000444294.3	+	3	2103	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	TRIM67_ENST00000449018.3_Missense_Mutation_p.E353D|TRIM67_ENST00000366653.5_Missense_Mutation_p.E415D|TRIM67_ENST00000366652.2_Missense_Mutation_p.E415D	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	415						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGACTAAAGAGAGGGAACACA	0.547000													9	49					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262225	45262225	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:45262225C>G	ENST00000303230.4	-	8	2528	c.2471G>C	c.(2470-2472)gGa>gCa	p.G824A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	824						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGGCCCGTTCCGGGGACCGC	0.672000													8	17					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				76	109					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772975	51772975	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:51772975G>A	ENST00000251076.5	-	24	6615	c.6328C>T	c.(6328-6330)Ctg>Ttg	p.L2110L	DMXL2_ENST00000543779.2_Silent_p.L2110L|DMXL2_ENST00000449909.3_Silent_p.L1474L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2110						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTGATCCAGCAGATCACTC	0.393000													25	75					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234357951	234357951	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:234357951G>C	ENST00000264057.2	+	15	1829	c.1817G>C	c.(1816-1818)cGa>cCa	p.R606P	DGKD_ENST00000409813.3_Missense_Mutation_p.R562P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	606					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCGGCCTCGAGAACAGCTC	0.567000											OREG0015296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114469674	114469674	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:114469674T>C	ENST00000513154.1	-	8	1707	c.1381A>G	c.(1381-1383)Aaa>Gaa	p.K461E	TRIM36_ENST00000514154.1_Missense_Mutation_p.K318E|TRIM36_ENST00000282369.3_Missense_Mutation_p.K473E			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	473	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGAATTATTTTACTTGTTCCA	0.358000													17	42					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595458	82595458	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr7:82595458C>T	ENST00000333891.9	-	4	3983	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1216K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTTTTCTTCAGGGAGTGGC	0.368000													21	97					0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2692778	2692778	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:2692778C>T	ENST00000426774.1	+	3	348	c.125C>T	c.(124-126)tCa>tTa	p.S42L	XG_ENST00000419513.2_Missense_Mutation_p.S42L|XG_ENST00000381174.5_Missense_Mutation_p.S42L	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	42						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGCCAAACTCAGGTGAGTGT	0.448000													36	162					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90703583	90703583	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:90703583G>A	ENST00000458208.1	-	4	814	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.P114S|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	114					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTGGCCTTGGGGTTCAGGGGT	0.547000													11	38					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53792551	53792551	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:53792551C>A	ENST00000306052.6	-	2	339	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.D80Y|LRP8_ENST00000354412.3_Missense_Mutation_p.D80Y|LRP8_ENST00000347547.2_Missense_Mutation_p.D80Y	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	80	LDL-receptor class A 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCACGGCAGTCGTCCTCGTCG	0.647000													4	55					0.00909568	0.00915777	1	1	0
TRIM3	10612	broad.mit.edu	37	11	6478982	6478982	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:6478982A>T	ENST00000525074.1	-	4	853	c.459T>A	c.(457-459)gaT>gaA	p.D153E	TRIM3_ENST00000359518.3_Missense_Mutation_p.D153E|TRIM3_ENST00000345851.3_Missense_Mutation_p.D153E|TRIM3_ENST00000536344.1_Missense_Mutation_p.D34E|TRIM3_ENST00000537602.1_Missense_Mutation_p.D153E	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	153					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCCACCACATCCCTCAGCA	0.667000													13	29					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350570	139350570	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:139350570C>T	ENST00000313050.7	-	17	5672	c.5599G>A	c.(5599-5601)Gaa>Aaa	p.E1867K	SEC16A_ENST00000290037.6_Missense_Mutation_p.E1689K|SEC16A_ENST00000371706.3_Missense_Mutation_p.E1689K|SEC16A_ENST00000431893.2_Missense_Mutation_p.E1689K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1689	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACTCCTCTTCTGGCTTCTCT	0.582000													17	51					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	706545	706545	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr18:706545C>T	ENST00000251101.7	-	2	206	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000539164.1_Missense_Mutation_p.V40I|ENOSF1_ENST00000340116.7_Missense_Mutation_p.V61I|ENOSF1_ENST00000580982.1_Missense_Mutation_p.V40I|ENOSF1_ENST00000383578.3_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	40					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTTTCTATGACGACATAGGCA	0.493000													4	62					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335151	103335151	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:103335151A>T	ENST00000258436.5	-	6	1196	c.1153T>A	c.(1153-1155)Tcc>Acc	p.S385T		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	385					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GTGGAGAAGGACAGGAGAGTG	0.627000													5	21					0	0	1	0	0
UBE2C	11065	broad.mit.edu	37	20	44443105	44443105	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:44443105G>C	ENST00000405520.1	+	2	932	c.95G>C	c.(94-96)gGa>gCa	p.G32A	UBE2C_ENST00000335046.3_Missense_Mutation_p.G71A|UBE2C_ENST00000356455.4_Missense_Mutation_p.G71A|UBE2C_ENST00000372568.4_Missense_Mutation_p.G32A|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000496085.1_3'UTR			O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	71					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGAGCAGCTGGAACAGTAAGT	0.517000													15	30					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15117186	15117186	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:15117186G>C	ENST00000253699.3	-	13	1746	c.1133C>G	c.(1132-1134)aCc>aGc	p.T378S	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.T378S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	378	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGTTCTTTGGTTGGCAGTGA	0.448000													13	57					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588539	204588539	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:204588539G>A	ENST00000367175.1	-	1	2794	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRRN2_ENST00000367177.3_Silent_p.L194L|LRRN2_ENST00000367176.3_Silent_p.L194L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	194					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGCCAATCATGAGTATCTCCA	0.572000													11	35					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55075294	55075294	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:55075294C>T	ENST00000302250.2	-	8	1565	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	469						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGGAAGACCTCAGCCACAGCT	0.602000													17	25					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3125601	3125601	+	Missense_Mutation	SNP	C	C	T	rs146107856		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:3125601C>T	ENST00000263650.7	-	10	1225	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E288K|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E288K|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E267K	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	356					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGGACGCCTCGCCCAGCTGC	0.657000													4	14					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31838153	31838153	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:31838153T>A	ENST00000357033.4	-	50	7454	c.7248A>T	c.(7246-7248)ttA>ttT	p.L2416F	DMD_ENST00000378677.2_Missense_Mutation_p.L2412F|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2416					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTGAAGTAAACGGTTTA	0.428000													20	35					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2838727	2838727	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chrX:2838727C>A	ENST00000381154.1	-	4	429	c.354G>T	c.(352-354)tgG>tgT	p.W118C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	118						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCCTGCGTTCCACTGAAGGG	0.527000													10	23					1.58986e-06	1.70549e-06	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122861994	122861994	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:122861994G>A	ENST00000358808.2	-	3	753	c.599C>T	c.(598-600)tCa>tTa	p.S200L	CLIP1_ENST00000537178.1_Missense_Mutation_p.S200L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S200L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S200L|CLIP1_ENST00000361654.4_Missense_Mutation_p.S200L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	200	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCCAGCCTCTGAAAGGTTGGA	0.453000													11	157					0	0	1	0	0
SEP15	9403	broad.mit.edu	37	1	87379771	87379771	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:87379771C>T	ENST00000331835.5	-	1	277	c.15G>A	c.(13-15)ccG>ccA	p.P5P	SEP15_ENST00000370554.1_Silent_p.P5P|SEP15_ENST00000401030.3_Silent_p.P5P|SEP15_ENST00000469566.1_Intron	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN							'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GACACCCACTCGGCCCAGCCG	0.587000													7	37					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996178	32996178	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:32996178G>C	ENST00000070846.6	-	6	1472	c.1448C>G	c.(1447-1449)aCt>aGt	p.T483S	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	483					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gcctcccaaagtgctgggatt	0.512000													3	10					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49751580	49751580	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:49751580G>A	ENST00000327697.6	+	31	3127	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	RNF123_ENST00000433785.1_Missense_Mutation_p.E107K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	995						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AACCAAACTTGAGGACGCCAA	0.602000													6	32					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737107	145737107	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:145737107C>T	ENST00000428558.2	-	21	3500	c.3459G>A	c.(3457-3459)gaG>gaA	p.E1153E	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1153					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGAGAACTTCTCCTCTGGCC	0.667000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				12	72					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35860958	35860958	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:35860958C>T	ENST00000303115.3	+	2	216	c.87C>T	c.(85-87)gaC>gaT	p.D29D	IL7R_ENST00000511982.1_Silent_p.D29D|IL7R_ENST00000506850.1_Silent_p.D29D|IL7R_ENST00000343305.4_Silent_p.D29D|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	29					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCCAGGAGACTTGGAAGATG	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						25	84					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216236758	216236758	+	Silent	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:216236758G>T	ENST00000354785.4	-	40	6957	c.6588C>A	c.(6586-6588)ctC>ctA	p.L2196L	FN1_ENST00000336916.4_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000359671.1_Silent_p.L2105L|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Silent_p.L2015L|FN1_ENST00000323926.6_Intron			P02751	FINC_HUMAN	fibronectin 1	2105					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTTGGATTGAGTCCCGGAC	0.507000													14	69					0.00185496	0.00190666	1	1	0
ITCH	83737	broad.mit.edu	37	20	33033204	33033204	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr20:33033204C>G	ENST00000374864.4	+	11	1291	c.1078C>G	c.(1078-1080)Cag>Gag	p.Q360E	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.Q401E|ITCH_ENST00000535650.1_Missense_Mutation_p.Q250E	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	401	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGAACAATGGCAGCTACAGCG	0.428000													7	112					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22276947	22276947	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:22276947G>A	ENST00000324559.8	+	13	1528	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	404						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAAACAACGACAAGCCAGA	0.343000													23	49					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817272	4817272	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:4817272G>C	ENST00000248244.5	-	2	1347	c.1118C>G	c.(1117-1119)tCa>tGa	p.S373*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	373					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAGGTGAGCTGAACAAGGAGT	0.547000													8	30					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11882828	11882828	+	Silent	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:11882828C>T	ENST00000346436.6	+	6	475	c.423C>T	c.(421-423)gtC>gtT	p.V141V	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.V119V|CLCN6_ENST00000376496.3_Silent_p.V141V|CLCN6_ENST00000312413.6_Silent_p.V141V	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	141					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTTGTCTTCCTGGCAA	0.537000													7	51					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27412532	27412532	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:27412532G>A	ENST00000326799.3	-	11	1365	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.S316F|YME1L1_ENST00000376016.3_Missense_Mutation_p.S349F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	406					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCAAATTCGGATCCAGAAGC	0.433000													24	103					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658275	46658275	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:46658275G>A	ENST00000544460.1	+	1	2664	c.2410G>A	c.(2410-2412)Gat>Aat	p.D804N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D804N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	804					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTAATGTCTGATATTCAGTA	0.428000													17	51					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7128148	7128148	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:7128148G>C	ENST00000381309.3	+	19	3258	c.2693G>C	c.(2692-2694)aGa>aCa	p.R898T	KDM4C_ENST00000442236.2_Missense_Mutation_p.R643T|KDM4C_ENST00000428870.2_Missense_Mutation_p.R585T|KDM4C_ENST00000381306.3_Missense_Mutation_p.R898T|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	898	Tudor 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TACAGTTGCAGAGTGATGGCT	0.478000													13	43					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774320	52774320	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr12:52774320C>G	ENST00000257951.3	-	7	1317	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	417	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGGGTCGCCTCGCCCTGCT	0.652000											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024583	203024583	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:203024583C>A	ENST00000367240.2	+	15	2317	c.1790C>A	c.(1789-1791)tCc>tAc	p.S597Y	PPFIA4_ENST00000447715.2_Missense_Mutation_p.S596Y|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S112Y|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S112Y|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S112Y|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S325Y			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	112	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGAAGGAGTCCACGGAGCTC	0.612000													11	55					3.07112e-06	3.28253e-06	1	1	0
SUPT20H	55578	broad.mit.edu	37	13	37593507	37593507	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:37593507G>A	ENST00000360252.4	-	22	2094	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	SUPT20H_ENST00000464744.1_Missense_Mutation_p.S616L|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S694L|SUPT20H_ENST00000356185.3_Missense_Mutation_p.S616L|SUPT20H_ENST00000350612.6_Missense_Mutation_p.S615L	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CCTGAGACTTGAAGTATTTTT	0.259000													20	140					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460538	149460538	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:149460538C>A	ENST00000286301.3	-	3	390	c.99G>T	c.(97-99)aaG>aaT	p.K33N	CSF1R_ENST00000543093.1_Missense_Mutation_p.K33N	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	33	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGCTCCTGGCTTCACGACCA	0.602000													6	9					0.00116845	0.00120521	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28618164	28618164	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:28618164G>A	ENST00000395609.1	-	8	1270	c.512C>T	c.(511-513)tCc>tTc	p.S171F	SULT1A1_ENST00000314752.7_Missense_Mutation_p.S171F|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S171F|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S93F|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S171F			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTGGTACCAGGATCCGTAGGA	0.577000													26	194					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436385	18436385	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:18436385G>A	ENST00000338745.6	-	7	2509	c.775C>T	c.(775-777)Cta>Tta	p.L259L	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.L259L|SATB1_ENST00000454909.2_Silent_p.L259L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	259	Nuclear matrix targeting sequence (NMTS).				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCTGGGATAGCTCAGAAAGA	0.463000													3	20					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902221	24902221	+	Silent	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:24902221G>A	ENST00000347898.3	+	9	1318	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SLC5A11_ENST00000545376.1_Silent_p.L162L|SLC5A11_ENST00000568579.1_Silent_p.L162L|SLC5A11_ENST00000539472.1_Silent_p.L168L|SLC5A11_ENST00000424767.2_Silent_p.L197L|SLC5A11_ENST00000565769.1_Silent_p.L168L|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000567758.1_Silent_p.L197L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	232					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGGAAGGACTGAAGGAGAAGT	0.542000													37	182					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773252	60773252	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:60773252G>C	ENST00000335712.6	-	2	466	c.239C>G	c.(238-240)gCt>gGt	p.A80G	BCL11A_ENST00000358510.4_Missense_Mutation_p.A80G|BCL11A_ENST00000356842.4_Missense_Mutation_p.A80G|BCL11A_ENST00000359629.5_Missense_Mutation_p.A80G|BCL11A_ENST00000538214.1_Missense_Mutation_p.A80G|BCL11A_ENST00000537768.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	80	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTATCCACAGCTTTTTCTAA	0.483000			T	IGH@	B-CLL								37	50					0	0	1	0	0
ARL8A	127829	broad.mit.edu	37	1	202107111	202107111	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:202107111C>A	ENST00000272217.2	-	3	428	c.260G>T	c.(259-261)cGa>cTa	p.R87L	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	87					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GCTCACTCCTCGGCAGTAGCG	0.632000													3	20					0.00024832	0.000259767	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15688846	15688846	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr10:15688846A>G	ENST00000378076.3	-	12	1559	c.1206T>C	c.(1204-1206)aaT>aaC	p.N402N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	402					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTAAATTACCATTGTATCCAT	0.468000													6	18					0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59488493	59488493	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr8:59488493T>C	ENST00000523483.1	+	6	1849	c.335T>C	c.(334-336)aTg>aCg	p.M112T	SDCBP_ENST00000413219.2_Missense_Mutation_p.M92T|SDCBP_ENST00000422546.2_Missense_Mutation_p.M91T|SDCBP_ENST00000447182.2_Missense_Mutation_p.M91T|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000424270.2_Missense_Mutation_p.M86T|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000260130.4_Missense_Mutation_p.M92T			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	92					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATAAACTATATGGTGGCTCCT	0.353000													12	93					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170329	214170329	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:214170329C>A	ENST00000366958.4	+	2	1059	c.451C>A	c.(451-453)Cag>Aag	p.Q151K	PROX1_ENST00000261454.4_Missense_Mutation_p.Q151K|PROX1_ENST00000435016.1_Missense_Mutation_p.Q151K|PROX1_ENST00000498508.2_Missense_Mutation_p.Q151K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	151					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TACTATGAGCCAGTTTGATAT	0.507000													12	53					7.03913e-09	7.71949e-09	1	1	0
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592000													5	281					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54468427	54468427	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:54468427C>G	ENST00000334206.5	-	2	291	c.115G>C	c.(115-117)Gat>Cat	p.D39H	CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Missense_Mutation_p.D39H|CDC20B_ENST00000381375.2_Missense_Mutation_p.D39H|CDC20B_ENST00000296733.1_Missense_Mutation_p.D39H			Q86Y33	CD20B_HUMAN	cell division cycle 20B	39										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTGGCGGAATCTTGACTTCTC	0.373000													28	86					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34851201	34851201	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr17:34851201G>A	ENST00000225410.4	+	5	486	c.421G>A	c.(421-423)Gac>Aac	p.D141N	ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000490126.2_Missense_Mutation_p.D28N	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	141					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GGAGTTTGCAGACTGCTGTTT	0.488000													8	51					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020725	90020725	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:90020725C>G	ENST00000563594.1	+	3	1062	c.65C>G	c.(64-66)tCt>tGt	p.S22C	DEF8_ENST00000569453.1_Missense_Mutation_p.S22C|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Missense_Mutation_p.S22C|DEF8_ENST00000418391.2_Missense_Mutation_p.S22C|DEF8_ENST00000570182.1_Missense_Mutation_p.S22C|DEF8_ENST00000268676.7_Missense_Mutation_p.S83C	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	83					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AACAAGCAGTCTGGGCCGAGA	0.637000													10	45					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15129363	15129363	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:15129363C>G	ENST00000396410.4	+	22	2157	c.2060C>G	c.(2059-2061)aCg>aGg	p.T687R	PDXDC1_ENST00000325823.7_Missense_Mutation_p.T672R|PDXDC1_ENST00000563679.1_Missense_Mutation_p.T705R|PDXDC1_ENST00000447912.2_Missense_Mutation_p.T596R|PDXDC1_ENST00000569715.1_Missense_Mutation_p.T660R|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Missense_Mutation_p.T659R	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	687					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGGAGTCACGCTGCCTCCA	0.582000													3	7					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12169631	12169631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:12169631C>T	ENST00000263932.2	+	5	652	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TNFRSF8_ENST00000417814.2_Nonsense_Mutation_p.Q33*	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	144					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCACGGCGCAGAAGAACAC	0.622000													4	25					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945958	17945958	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr19:17945958C>G	ENST00000458235.1	-	15	2080	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	JAK3_ENST00000527670.1_Missense_Mutation_p.D661H|JAK3_ENST00000534444.1_Missense_Mutation_p.D661H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	661	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGGCTCCCATCAGCCCCCTCC	0.637000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	37					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37484060	37484060	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr2:37484060C>T	ENST00000379066.1	-	17	2920	c.2158G>A	c.(2158-2160)Gac>Aac	p.D720N	PRKD3_ENST00000234179.2_Missense_Mutation_p.D720N			O94806	KPCD3_HUMAN	protein kinase D3	720	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AATCCAAAGTCACACAGCTTC	0.383000													9	107					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119509452	119509452	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr11:119509452C>T	ENST00000341398.2	-	7	1215	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGGATATCCTCAGGCACAAGG	0.612000													8	23					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574884	82574884	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:82574884A>T	ENST00000339465.5	+	3	747	c.678A>T	c.(676-678)gaA>gaT	p.E226D	FAM154B_ENST00000427381.2_Missense_Mutation_p.E211D|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	226										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACCATGGGAAATCCCACCAC	0.463000													12	33					0	0	1	0	0
CBWD3	445571	broad.mit.edu	37	9	70871869	70871869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr9:70871869G>T	ENST00000360171.6	+	5	1014	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	155							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGTTGATGCTGAATTAGGGAG	0.274000													19	184					5.6714e-07	6.10607e-07	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27106692	27106692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:27106692delC	ENST00000324856.7	+	20	6674	c.6303delC	c.(6301-6303)gacfs	p.D2101fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.D1884fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.D429fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.D1718fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2101					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCCCAGGACCCCTTTTCCA	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								33	47	---	---	---	---					
RRAGC	64121	broad.mit.edu	37	1	39322655	39322656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:39322655_39322656insC	ENST00000373001.3	-	2	512_513	c.336_337insG	c.(334-339)ttccagfs	p.Q113fs		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	113					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				TCCCATATCTGGAAATTCACAA	0.411													16	183	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186039774	186039774	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr1:186039774delG	ENST00000271588.4	+	52	8253	c.8024delG	c.(8023-8025)tggfs	p.W2675fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.W2675fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2675	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGACCTTTGGGGGCCAGGT	0.403													52	80	---	---	---	---					
PYDC2	152138	broad.mit.edu	37	3	191179077	191179077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr3:191179077delC	ENST00000518817.1	+	1	126	c.126delC	c.(124-126)gtcfs	p.V42fs		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	42	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TACAGACCGTCCCCCAGACAG	0.542													7	63	---	---	---	---					
PRRC1	133619	broad.mit.edu	37	5	126860478	126860478	+	Frame_Shift_Del	DEL	T	T	-	rs113631271		TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr5:126860478delT	ENST00000442138.2	+	3	505	c.359delT	c.(358-360)cttfs	p.L121fs	PRRC1_ENST00000296666.8_Frame_Shift_Del_p.L121fs|PRRC1_ENST00000512635.2_Frame_Shift_Del_p.L121fs			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	121	Pro-rich.					Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCAAACACTCTTTTACCTGCA	0.502													32	111	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33380050	33380050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr6:33380050delC	ENST00000374516.3	+	2	281	c.10delC	c.(10-12)cccfs	p.P5fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.P5fs|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	5					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567													19	34	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48923123	48923123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr13:48923123delC	ENST00000267163.4	+	6	709	c.571delC	c.(571-573)ctafs	p.L191fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	191					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATTGGTGCTAAAAGTTTC	0.249		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	51	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22948623	22948623	+	RNA	DEL	A	A	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr14:22948623delA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							CCATCCTTAGAAATTCAGTGA	0.398													6	13	---	---	---	---					
DLGAP5	9787	broad.mit.edu	37	14	55615077	55615077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr14:55615077delC	ENST00000247191.2	-	19	2749	c.2533delG	c.(2533-2535)gaafs	p.E845fs	DLGAP5_ENST00000395425.2_3'UTR	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	845					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATTCAAAATTCTCCTGGTTGT	0.318													21	44	---	---	---	---					
ZFYVE19	84936	broad.mit.edu	37	15	41101389	41101389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:41101389delG	ENST00000355341.4	+	2	853	c.352delG	c.(352-354)gggfs	p.G118fs	ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Frame_Shift_Del_p.G95fs|ZFYVE19_ENST00000336455.5_Frame_Shift_Del_p.G108fs|ZFYVE19_ENST00000299173.10_Frame_Shift_Del_p.G118fs	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	118							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTCGGACTGGGAACACCCA	0.537													20	23	---	---	---	---					
COMMD4	54939	broad.mit.edu	37	15	75632074	75632074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr15:75632074delG	ENST00000267935.8	+	7	613	c.414delG	c.(412-414)gtgfs	p.V138fs	COMMD4_ENST00000564815.1_Frame_Shift_Del_p.V116fs|COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	138	COMM.					cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCTGGCGGGTGGACTACACCC	0.642													9	31	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49671299	49671301	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-XF-A9SZ-01A-11D-A391-08	TCGA-XF-A9SZ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	049594a5-048f-4540-a705-4e96ca62571b	7ddb9298-1db6-475b-940a-6f9be01c0401	g.chr16:49671299_49671301delGTG	ENST00000561648.1	-	4	1815_1817	c.1762_1764delCAC	c.(1762-1764)cacdel	p.H588del	ZNF423_ENST00000262383.2_In_Frame_Del_p.H588del|ZNF423_ENST00000562520.1_In_Frame_Del_p.H528del|ZNF423_ENST00000562871.1_In_Frame_Del_p.H528del|ZNF423_ENST00000567169.1_In_Frame_Del_p.H471del|ZNF423_ENST00000535559.1_In_Frame_Del_p.H471del|ZNF423_ENST00000563137.2_In_Frame_Del_p.H528del	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	588					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAATGTTCTTGTGGTTCTCCTTG	0.581													11	65	---	---	---	---