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
NPY5R	4889	broad.mit.edu	37	4	164271862	164271862	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164271862C>G	ENST00000515560.1	+	4	1959	c.437C>G	c.(436-438)cCc>cGc	p.P146R	NPY5R_ENST00000338566.3_Missense_Mutation_p.P146R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P146R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	146					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAAAACATCCCATATCTAAT	0.358000													77	123					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060731	35060731	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:35060731G>C	ENST00000373913.3	+	3	1091	c.611G>C	c.(610-612)tGg>tCg	p.W204S	DLGAP4_ENST00000373907.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.W204S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	204					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATCTCAGGCTGGTGGAGCTCC	0.677000													21	31					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15028886	15028886	+	Silent	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrY:15028886A>C	ENST00000336079.3	+	15	1783	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	DDX3Y_ENST00000360160.4_Silent_p.V559V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	559	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATCTTCTTGTAGAAGCTAAAC	0.373000													16	4					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671215	131671215	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:131671215C>T	ENST00000259324.5	+	3	2295	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A591V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A591V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	591					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGAAGATGGCGAACCTGACT	0.572000													9	60					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137092658	137092658	+	Silent	SNP	G	G	A	rs147042344		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:137092658G>A	ENST00000453654.1	-	30	2453	c.1914C>T	c.(1912-1914)acC>acT	p.T638T	DGKI_ENST00000288490.5_Silent_p.T969T|DGKI_ENST00000446122.1_Silent_p.T951T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.T982T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	969					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.T969T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCCCGTTGCCGGTTTTAGCTG	0.428000													61	115					0	0	1	0	0
BBS7	0	broad.mit.edu	37	4	122747113	122747113	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:122747113A>C	ENST00000264499.4	-	19	2233	c.2050T>G	c.(2050-2052)Ttt>Gtt	p.F684V		NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	684					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTGCCTTTAAACTTAAATTTA	0.308000									Bardet-Biedl syndrome				11	23					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47069586	47069586	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:47069586G>A	ENST00000406902.1	+	15	1472	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R420Q			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	420					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACCTCGTCACGGAGCTACGTA	0.637000													34	97					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407006	46407006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46407006G>A	ENST00000433765.2	-	1	1101	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCGCAGGGCGCATGCCAGCC	0.627000													5	167					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75567854	75567854	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:75567854A>T	ENST00000297785.3	-	1	117	c.63T>A	c.(61-63)acT>acA	p.T21T	ALDH1A1_ENST00000376939.1_Silent_p.T21T|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	21					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TACTCACCTTAGTATATTGAA	0.403000													21	39					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34192348	34192348	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:34192348C>A	ENST00000311880.2	-	3	339	c.191G>T	c.(190-192)aGc>aTc	p.S64I	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.S64I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	64							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTTTGGCTTGCTCGGATGCTG	0.557000													21	21					2.70639e-06	2.70639e-06	1	1	0
NUP98	4928	broad.mit.edu	37	11	3735065	3735065	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:3735065C>A	ENST00000324932.7	-	19	2980	c.2560G>T	c.(2560-2562)Ggt>Tgt	p.G854C	NUP98_ENST00000397007.4_Missense_Mutation_p.G871C|NUP98_ENST00000397004.4_Missense_Mutation_p.G854C|NUP98_ENST00000355260.3_Missense_Mutation_p.G854C|NUP98_ENST00000359171.4_Missense_Mutation_p.G854C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	871	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACCCAAGAACCAGTTTCAGGC	0.398000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								31	60					1.06647e-15	1.07917e-15	1	1	0
SLC16A9	220963	broad.mit.edu	37	10	61413936	61413936	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:61413936G>A	ENST00000395348.3	-	5	1484	c.848C>T	c.(847-849)gCc>gTc	p.A283V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A283V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	283					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CTTCCTCTTGGCAAGCTGTTT	0.373000													4	136					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360511	65360511	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:65360511C>T	ENST00000340313.4	-	3	1112	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GCTGGGGCCGCGGGCGGCAGG	0.627000													6	17					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71025575	71025575	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:71025575G>A	ENST00000354624.5	+	17	2739		c.e17+1		RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCCTCAGTGAGTGCCCA	0.617000													5	17					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371028	100371028	+	RNA	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:100371028A>G	ENST00000542585.1	+	0	5694				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGAGCTGTGAATGTCAGAAA	0.627000													35	30					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37260173	37260173	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:37260173T>C	ENST00000397147.4	+	2	301		c.e2+2		CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Splice_Site	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGCCACTTTGTAAGACAGACT	0.517000													42	46					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	105					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347177	156347177	+	Silent	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:156347177C>T	ENST00000400992.2	+	3	434	c.66C>T	c.(64-66)ggC>ggT	p.G22G	RHBG_ENST00000451864.2_Silent_p.G22G|RHBG_ENST00000255013.3_Silent_p.G22G|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Silent_p.G91G|RHBG_ENST00000368246.2_Silent_p.G91G			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	91					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAGCGTGGGCTTCACCTTCC	0.622000													60	107					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11881064	11881064	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr18:11881064T>C	ENST00000334049.6	+	12	1915	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	GNAL_ENST00000269162.5_Missense_Mutation_p.I359T|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Missense_Mutation_p.I359T|GNAL_ENST00000602628.1_Missense_Mutation_p.I152T|GNAL_ENST00000535121.1_Missense_Mutation_p.I359T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	359					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						ACAGAGAACATCCGCAGGGTG	0.602000													13	25					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040530	72040530	+	RNA	SNP	T	T	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:72040530T>G	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TGATGTCTTGTGTCCTTGGGA	0.413000													62	54					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967724	10967724	+	Silent	SNP	G	G	A	rs147839581	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:10967724G>A	ENST00000254488.2	+	9	1221	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	385					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACCCCAAGGCGGTCACCATGA	0.587000													111	178					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34236594	34236594	+	RNA	SNP	T	T	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:34236594T>A	ENST00000587132.1	-	0	1433																											AAGGTTGAAGTGTGACACTGG	0.488000													9	18					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984015	5984015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:5984015C>T	ENST00000574946.1	+	2	427	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	13						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAAGTTTCTCCGCCGAACACA	0.662000													10	32					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695316	49695316	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:49695316C>T	ENST00000296452.4	+	5	8441	c.8327C>T	c.(8326-8328)cCg>cTg	p.P2776L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2776					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCTGCCTCCGGAGTCTCTC	0.612000													32	46					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87208814	87208814	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:87208814A>G	ENST00000370558.4	+	9	1318	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.I232V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I353V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	332	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTTGCAGGTGATCACTGTGTT	0.348000													14	23					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436151	158436151	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158436151C>T	ENST00000289451.2	+	1	880	c.800C>T	c.(799-801)aCt>aTt	p.T267I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTAATTACACTTCAAGCCAA	0.413000													49	78					0	0	1	0	0
BDKRB1	0	broad.mit.edu	37	14	96730919	96730919	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr14:96730919T>G	ENST00000216629.6	+	3	1506	c.900T>G	c.(898-900)ttT>ttG	p.F300L	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	300					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAACTTCTTTGCCTTCACTA	0.478000													58	88					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:47696430C>G	ENST00000393331.3	-	7	863	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453000										Prostate(2;0.17)			43	82					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298104	197298104	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:197298104C>T	ENST00000260983.2	-	2	226	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567000													11	52					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465315	58465315	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:58465315G>A	ENST00000219919.4	+	3	657	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	AQP9_ENST00000558772.1_Missense_Mutation_p.R31Q|AQP9_ENST00000536493.1_Missense_Mutation_p.R96Q|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R96L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTCTTTGGACGGATGAAATGG	0.468000													33	118					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451506	110451506	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:110451506A>T	ENST00000260283.4	-	16	2448	c.2164T>A	c.(2164-2166)Tat>Aat	p.Y722N	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Y265N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Y699N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	722					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTTTTCTGATAAAACTCCCTG	0.478000													48	67					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46671735	46671735	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46671735A>G	ENST00000434074.1	+	6	1015	c.326A>G	c.(325-327)aAa>aGa	p.K109R	ATG13_ENST00000528494.1_Missense_Mutation_p.K109R|ATG13_ENST00000530500.1_Missense_Mutation_p.K30R|ATG13_ENST00000524625.1_Missense_Mutation_p.K109R|ATG13_ENST00000529655.1_Missense_Mutation_p.K109R|ATG13_ENST00000451945.1_Missense_Mutation_p.K109R|ATG13_ENST00000359513.4_Missense_Mutation_p.K109R|ATG13_ENST00000312040.4_Missense_Mutation_p.K109R|ATG13_ENST00000526508.1_Missense_Mutation_p.K109R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	109					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGGTGTGATAAAGAAATCAAA	0.433000													21	44					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189861	59189861	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:59189861G>A	ENST00000302040.4	-	1	588	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATCAGAGCAGGACAGAGCCAG	0.458000													14	29					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193111116	193111116	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:193111116G>C	ENST00000367435.3	+	7	833	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	217					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGTGGATGCTGAGGTAGATGT	0.383000													17	39					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	99					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650663	232650663	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:232650663G>A	ENST00000366630.1	-	2	781	c.423C>T	c.(421-423)atC>atT	p.I141I	SIPA1L2_ENST00000262861.4_Silent_p.I141I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	141					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGATGTCTCCGATTGTGTACT	0.488000													7	148					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261128	158261128	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158261128G>A	ENST00000368170.3	+	2	545	c.266G>A	c.(265-267)cGt>cAt	p.R89H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTGTTATTTCGTTTCTACCTC	0.398000													35	60					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	40					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107694	22107694	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:22107694A>G	ENST00000397802.4	+	7	1243	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	POLR3D_ENST00000306433.4_Missense_Mutation_p.K343R			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	343					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCTTGGGCAAGGTGACTCTG	0.557000													23	39					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257664	34257664	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:34257664A>T	ENST00000379166.2	-	11	2060	c.1941T>A	c.(1939-1941)ccT>ccA	p.P647P	KIF24_ENST00000379174.3_Silent_p.P513P|KIF24_ENST00000402558.2_Silent_p.P647P|KIF24_ENST00000345050.2_Silent_p.P513P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	647					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCCTTTCACAGGGCTAGCAT	0.493000													3	48					0	0	1	0	0
CEBPB	1051	broad.mit.edu	37	20	48807618	48807618	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:48807618G>A	ENST00000303004.3	+	1	243	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	16	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CCCTGCCGCCGCCGCCGCCTG	0.736000													7	6					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303919	151303919	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552000													3	40					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512748	61512748	+	Silent	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:61512748C>T	ENST00000266070.4	-	16	4885	c.4560G>A	c.(4558-4560)ttG>ttA	p.L1520L	DIDO1_ENST00000395343.1_Silent_p.L1520L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1520					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGAGACATCAAGGCGTCCG	0.632000													28	55					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636278	115636278	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:115636278A>T	ENST00000369301.3	+	3	543		c.e3-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2						cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ttttCCTTTCAGATGGTCTTC	0.308000													20	36					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077095	56077095	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:56077095A>T	ENST00000373965.2	-	8	1206	c.812T>A	c.(811-813)gTg>gAg	p.V271E	PCDH15_ENST00000395446.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373955.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373957.3_Missense_Mutation_p.V249E|PCDH15_ENST00000395438.1_Missense_Mutation_p.V271E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395440.1_Missense_Mutation_p.V271E|PCDH15_ENST00000320301.6_Missense_Mutation_p.V271E|PCDH15_ENST00000395442.1_Missense_Mutation_p.V271E|PCDH15_ENST00000361849.3_Missense_Mutation_p.V271E|PCDH15_ENST00000395445.1_Missense_Mutation_p.V271E|PCDH15_ENST00000437009.1_Missense_Mutation_p.V271E|PCDH15_ENST00000414778.1_Missense_Mutation_p.V276E|PCDH15_ENST00000395432.2_Missense_Mutation_p.V234E|PCDH15_ENST00000395433.1_Missense_Mutation_p.V249E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	271					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTGTTTGGCACAAGGACACA	0.458000										HNSCC(58;0.16)			45	76					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171056737	171056737	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:171056737T>A	ENST00000334231.6	+	3	291	c.291T>A	c.(289-291)taT>taA	p.Y97*	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Y88*|MYO3B_ENST00000408978.4_Nonsense_Mutation_p.Y88*			Q8WXR4	MYO3B_HUMAN	myosin IIIB	88	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAAAGTTTTATGGGATGTTTT	0.433000													15	27					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	rs137854568		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr5:112151261C>T	ENST00000457016.1	+	9	1284	c.904C>T	c.(904-906)Cga>Tga	p.R302*	APC_ENST00000257430.4_Nonsense_Mutation_p.R302*|APC_ENST00000508376.2_Nonsense_Mutation_p.R302*			P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R302*(13)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTGCACCTCGAAGGCTGAC	0.428000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	26					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671720	125671720	+	Missense_Mutation	SNP	C	C	T	rs115436587	by1000genomes	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:125671720C>T	ENST00000431078.1	+	24	4140	c.3776C>T	c.(3775-3777)aCc>aTc	p.T1259I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1259					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCATCATGACCCGGTTCCTC	0.453000													10	103					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902255	16902255	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:16902255C>T	ENST00000310398.2	-	4	275	c.205G>A	c.(205-207)Gag>Aag	p.E69K	AGR3_ENST00000402239.3_Missense_Mutation_p.E69K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	69						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGACAATCCTCCAGGTGATGA	0.289000													108	106					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97330979	97330979	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:97330979A>G	ENST00000266742.4	+	9	1264	c.925A>G	c.(925-927)Agt>Ggt	p.S309G	NEDD1_ENST00000411739.2_Missense_Mutation_p.S220G|NEDD1_ENST00000429527.2_Missense_Mutation_p.S309G|NEDD1_ENST00000557644.1_Missense_Mutation_p.S316G|NEDD1_ENST00000457368.2_Missense_Mutation_p.S220G	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	309					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTCAGTCAAGTTTAAATAA	0.303000													14	30					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69043372	69043372	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:69043372G>A	ENST00000544262.1	+	7	1030	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Intron			P42331	RHG25_HUMAN	Rho GTPase activating protein 25	0	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCACATGGGCAGGCTCATT	0.458000													12	21					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044099	71044099	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:71044099G>A	ENST00000272367.2	-	4	490	c.414C>T	c.(412-414)ctC>ctT	p.L138L	CLEC4F_ENST00000426626.1_Silent_p.L138L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	138					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATGATCACCGAGCACCTGGA	0.453000													4	112					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17257025	17257025	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:17257025A>C	ENST00000375541.5	+	7	854	c.785A>C	c.(784-786)aAt>aCt	p.N262T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	262					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AAGGTGACCAATGACTGGACA	0.662000													14	27					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96052548	96052548	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:96052548A>C	ENST00000515059.1	+	10	1244	c.961A>C	c.(961-963)Agt>Cgt	p.S321R	BMPR1B_ENST00000394931.1_Missense_Mutation_p.S321R|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S351R|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S321R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	321	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAAATCTTTAGTACTCAAGG	0.418000													40	47					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86665903	86665903	+	Silent	SNP	G	G	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:86665903G>C	ENST00000531380.1	-	1	530	c.225C>G	c.(223-225)gcC>gcG	p.A75A		NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	75	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTGCAGCTCGGCGTCCGTCT	0.667000													6	13					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													4	27					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567000													11	28					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988173	92988173	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:92988173A>T	ENST00000523629.1	-	10	1762	c.1308T>A	c.(1306-1308)ccT>ccA	p.P436P	RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|RUNX1T1_ENST00000518844.1_Silent_p.P409P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|GS1-5L10.1_ENST00000522980.1_RNA	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	436					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCCAGACGCAGGCCTGTGAA	0.488000													41	79					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662331	67662331	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr16:67662331G>A	ENST00000264010.4	+	9	2021	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	CTCF_ENST00000401394.1_Missense_Mutation_p.S198N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	526					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACGCCTGCAGCCACTGCGAT	0.572000													4	73					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673496	36673496	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr19:36673496G>A	ENST00000355114.5	-	5	2218	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C|ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGTGAACTACGAATAAAGGCC	0.433000													4	107					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164061475	164061475	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164061475C>A	ENST00000274054.2	-	5	971	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	NAF1_ENST00000422287.2_Missense_Mutation_p.D260Y|NAF1_ENST00000509434.1_5'UTR	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	260					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAATGTGATCTGAAGAATTA	0.294000													57	96					3.74213e-36	3.8323e-36	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													37	52					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	66					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151273533	151273533	+	Silent	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:151273533T>C	ENST00000287878.4	-	7	1374	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRKAG2_ENST00000492843.1_Silent_p.K166K|PRKAG2_ENST00000433631.2_Silent_p.K165K|PRKAG2_ENST00000392801.2_Silent_p.K246K|PRKAG2_ENST00000418337.2_Silent_p.K49K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	290	CBS 1.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGAAGGCCTTTTTAACCTGAA	0.428000													9	25					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	51					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765526	66765526	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:66765526A>G	ENST00000359742.4	-	23	3200	c.2960T>C	c.(2959-2961)aTg>aCg	p.M987T	GRIP1_ENST00000286445.7_Missense_Mutation_p.M972T|GRIP1_ENST00000398016.3_Missense_Mutation_p.M935T			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	987					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCTTGTTTCATTTTTCTCAG	0.498000													63	115					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6460608	6460608	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:6460608A>G	ENST00000276893.5	+	4	848	c.680A>G	c.(679-681)aAg>aGg	p.K227R		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	227	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGAATGTCAAGGATCTTAGA	0.363000													33	59					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37499667	37499667	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:37499667A>G	ENST00000373091.3	-	1	59	c.43T>C	c.(43-45)Tac>Cac	p.Y15H	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y15H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	15					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGGCCCAGTATTCCCAAACC	0.741000													8	13					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													5	84					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9801416	9801416	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:9801416G>A	ENST00000226193.5	-	3	1039	c.599C>T	c.(598-600)gCc>gTc	p.A200V	RCVRN_ENST00000570909.2_Missense_Mutation_p.A69V	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	200					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGCATCAGGCGTTCTTCAT	0.512000													56	115					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													5	6	---	---	---	---					
RP11-274B21.1	0	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs57917869		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441													2	4	---	---	---	---					
ZFAT	57623	broad.mit.edu	37	8	135533215	135533215	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:135533215delC	ENST00000520727.1	-	14	3408	c.3109delG	c.(3109-3111)tafs	p.V1037fs	ZFAT_ENST00000377838.3_Frame_Shift_Del_p.V1049fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.V987fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGCCATATACAAAGCTGCAA	0.408													11	25	---	---	---	---					
UPF2	26019	broad.mit.edu	37	10	12070949	12070949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:12070949delG	ENST00000356352.2	-	2	1413	c.940delC	c.(940-942)atfs	p.H314fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.H314fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.H314fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	314	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCCACAATGTCGACAGAAA	0.383													33	66	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	3	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25299375	25299376	+	RNA	INS	-	-	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:25299375_25299376insA	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA																							GATGAGTCCCCAAAAAAAACAT	0.495													8	373	---	---	---	---					
NR2F2-AS1	0	broad.mit.edu	37	15	96824106	96824108	+	RNA	DEL	GAA	GAA	-	rs11855159		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:96824106_96824108delGAA	ENST00000502125.2	-	0	609				NR2F2-AS1_ENST00000558929.1_RNA|NR2F2-AS1_ENST00000561402.1_RNA|NR2F2-AS1_ENST00000561344.1_RNA|NR2F2-AS1_ENST00000560800.1_RNA																							agaagaagaggaagaagaagaag	0.404													2	4	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													7	76	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44941831	44941831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:44941831delA	ENST00000377967.4	+	21	3196	c.3155delA	c.(3154-3156)gafs	p.E1052fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1007fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1059fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E973fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1052					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.R1054fs*5(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGAAAATGAAAAAAGAAGT	0.313			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								58	27	---	---	---	---