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
ALMS1	7840	broad.mit.edu	37	2	73717376	73717376	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:73717376C>G	ENST00000264448.6	+	10	8398	c.8287C>G	c.(8287-8289)Ctt>Gtt	p.L2763V	ALMS1_ENST00000409009.1_Missense_Mutation_p.L2721V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2763					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCCAGAGATCTTAAACAGAA	0.378000													25	74					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36894043	36894043	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:36894043C>T	ENST00000397224.4	-	6	1470	c.1377G>A	c.(1375-1377)ttG>ttA	p.L459L	FOXRED2_ENST00000366463.3_Silent_p.L11L|FOXRED2_ENST00000397223.4_Silent_p.L459L|FOXRED2_ENST00000216187.6_Silent_p.L459L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	459					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCACTCCTTCAACAGGATGA	0.602000													25	22					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996333	84996333	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:84996333T>A	ENST00000376104.2	-	4	428	c.117A>T	c.(115-117)caA>caT	p.Q39H	DLG2_ENST00000543673.1_Missense_Mutation_p.Q39H	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTAAAACTTGATTGGCTT	0.363000													15	213					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278867	278867	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:278867G>C	ENST00000382352.3	+	1	1131	c.640G>C	c.(640-642)Gac>Cac	p.D214H		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	214							nucleic acid binding|zinc ion binding	p.D214Y(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCGCGAATTCGACGTGAGCTT	0.632000													13	9					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56558560	56558560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:56558560C>A	ENST00000424459.3	+	13	2737	c.1463C>A	c.(1462-1464)tCa>tAa	p.S488*	GPBP1_ENST00000514387.2_Nonsense_Mutation_p.S297*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.S475*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.S468*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.S488*|GPBP1_ENST00000511209.1_Nonsense_Mutation_p.S460*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.S475*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGTGATACATCAGATGACGAC	0.398000													32	26					6.84511e-11	7.49285e-11	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542950	133542950	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:133542950C>T	ENST00000409261.1	-	14	1807	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.A478A|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	478							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGTCATCGTCCGCATCAACGT	0.522000													28	29					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64123094	64123094	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:64123094C>G	ENST00000356786.5	+	26	4413	c.4369C>G	c.(4369-4371)Cga>Gga	p.R1457G	CCDC88B_ENST00000359902.2_Silent_p.T561T|CCDC88B_ENST00000301897.4_Missense_Mutation_p.R120G|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1457					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGCCAACCGAGAGGGTGA	0.572000													6	35					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144921851	144921851	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:144921851G>C	ENST00000529945.1	-	5	2106	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S459C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S393C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S393C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S530C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S530C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S393C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S180C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S393C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S556C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	393					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTTTCCAAGAAGCCTCTTT	0.438000			T	PDGFRB	MPD								39	885					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:22369079C>T	ENST00000332663.2	+	1	602	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493000													33	404					0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13056577	13056577	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:13056577C>G	ENST00000333995.3	-	7	614	c.484G>C	c.(484-486)Gga>Cga	p.G162R	FAM9C_ENST00000542843.1_3'UTR|FAM9C_ENST00000380625.3_Missense_Mutation_p.G162R			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	162						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTTTCAGTTCCTTTCCCATCT	0.323000													19	43					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102157983	102157983	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:102157983G>C	ENST00000299314.7	-	13	2974	c.2712C>G	c.(2710-2712)ctC>ctG	p.L904L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	904					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TACTTACGTCGAGAAGATCTT	0.383000													17	103					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44180702	44180702	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:44180702G>C	ENST00000357199.4	-	6	767	c.689C>G	c.(688-690)tCa>tGa	p.S230*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.S230*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	230	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity	p.S230*(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCACAATGTGAGCAGCACTT	0.413000													13	89					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201498	71201498	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:71201498G>A	ENST00000273936.5	+	1	816	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGTGTTTTAGAAGATGACAC	0.408000													21	18					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721000													57	23					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408720	128408720	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:128408720C>G	ENST00000544369.1	+	4	1106	c.495C>G	c.(493-495)gtC>gtG	p.V165V	GPR17_ENST00000272644.3_Silent_p.V165V|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.V165V|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	165						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGCACCCGGTCAAGTCCCTCA	0.637000													5	37					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552000													45	111					0	0	1	0	0
CRYM	1428	broad.mit.edu	37	16	21288849	21288849	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:21288849A>G	ENST00000219599.3	-	4	492	c.227T>C	c.(226-228)tTg>tCg	p.L76S	CRYM_ENST00000415987.2_Missense_Mutation_p.L34S|CRYM_ENST00000396023.2_Missense_Mutation_p.L76S|CRYM_ENST00000543948.1_Missense_Mutation_p.L76S	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	76					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	GAAGGTGACCAACTTGGTGGT	0.607000													4	21					0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995705	21995705	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:21995705C>T	ENST00000286143.6	-	5	813	c.492G>A	c.(490-492)gtG>gtA	p.V164V	PDZD9_ENST00000424898.2_Silent_p.V226V|PDZD9_ENST00000537222.2_Silent_p.V166V			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	226										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGTCTTGCTTCACCATTATCC	0.448000													29	113					0	0	1	0	0
PPCDC	60490	broad.mit.edu	37	15	75340974	75340974	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:75340974G>A	ENST00000342932.3	+	5	585	c.441G>A	c.(439-441)ccG>ccA	p.P147P	PPCDC_ENST00000568649.1_Silent_p.P104P|PPCDC_ENST00000564923.1_Silent_p.P72P|PPCDC_ENST00000563393.1_Silent_p.P24P|PPCDC_ENST00000567336.1_Silent_p.P115P	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	147					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						GGGAGCACCCGATCACAGCGC	0.617000													5	20					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373271	129373271	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:129373271G>T	ENST00000442111.2	+	3	393	c.305G>T	c.(304-306)aGa>aTa	p.R102I	GLT1D1_ENST00000542193.1_Missense_Mutation_p.R3I|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R91I|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R102I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	102					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTCATGGGCAGAGTTCTTGAG	0.443000													5	23					1	1	1	1	0
FLRT1	23769	broad.mit.edu	37	11	63884097	63884097	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63884097G>A	ENST00000246841.3	+	2	1401	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	92					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGACCTGGATGAGTTCCCCAT	0.597000													8	21					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85781345	85781345	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:85781345G>C	ENST00000233838.4	-	7	890	c.810C>G	c.(808-810)ctC>ctG	p.L270L	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.L213L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CATCAAAAAAGAGCAGGAAAC	0.512000													19	94					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984049	77984049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:77984049G>T	ENST00000310924.2	-	3	804	c.689C>A	c.(688-690)tCa>tAa	p.S230*		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	230	Ser-rich.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GAAGGTGTCTGAGTCTGAGTC	0.657000													3	8					6.4e-05	6.63472e-05	1	1	0
PLAT	5327	broad.mit.edu	37	8	42036454	42036454	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:42036454C>A	ENST00000220809.4	-	13	1747	c.1491G>T	c.(1489-1491)cgG>cgT	p.R497R	PLAT_ENST00000519510.1_Silent_p.R434R|PLAT_ENST00000429710.2_Silent_p.R371R|PLAT_ENST00000429089.2_Silent_p.R497R|PLAT_ENST00000352041.3_Silent_p.R451R|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000524009.1_Silent_p.R408R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	497	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCCGCCGCTCCGAGTGTCTC	0.597000													10	79					6.40141e-05	6.63472e-05	1	1	0
TAP1	6890	broad.mit.edu	37	6	32818750	32818750	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:32818750G>T	ENST00000354258.4	-	4	1362	c.1201C>A	c.(1201-1203)Ctg>Atg	p.L401M	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.L140M	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	401	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TTCTTGGGCAGAAGGAAAAGC	0.552000													13	29					2.23348e-06	2.35603e-06	1	1	0
TRPT1	83707	broad.mit.edu	37	11	63991410	63991410	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63991410C>T	ENST00000394546.2	-	8	919	c.706G>A	c.(706-708)Gag>Aag	p.E236K	TRPT1_ENST00000546133.1_Missense_Mutation_p.E92K|TRPT1_ENST00000546089.1_Missense_Mutation_p.E148K|TRPT1_ENST00000394547.3_Missense_Mutation_p.E185K|TRPT1_ENST00000541278.1_Missense_Mutation_p.E197K|TRPT1_ENST00000317459.6_Missense_Mutation_p.E234K	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	234							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						CACTCTGTCTCTTCATCACCA	0.413000													4	29					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41905013	41905013	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:41905013G>C	ENST00000511642.1	-	3	1042	c.291C>G	c.(289-291)gtC>gtG	p.V97V	CCND3_ENST00000510503.1_Silent_p.V97V|CCND3_ENST00000415497.2_5'UTR|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000372988.4_Silent_p.V97V|CCND3_ENST00000372987.4_Silent_p.V128V|CCND3_ENST00000414200.2_Silent_p.V106V|CCND3_ENST00000372991.4_Silent_p.V178V			P30281	CCND3_HUMAN	cyclin D3	178	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATGCTTTTTGACCAAGGCCT	0.507000			T	IGH@	MM								13	59					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38029353	38029353	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:38029353G>A	ENST00000377940.3	+	5	755	c.616G>A	c.(616-618)Gat>Aat	p.D206N	ZPBP2_ENST00000584588.1_Missense_Mutation_p.D155N|ZPBP2_ENST00000348931.4_Missense_Mutation_p.D228N	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	228					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGACTGTGAAGATACCACTAA	0.403000													14	56					0	0	1	0	0
FAM3A	60343	broad.mit.edu	37	X	153741215	153741215	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:153741215C>A	ENST00000434658.2	-	2	528	c.59G>T	c.(58-60)tGg>tTg	p.W20L	FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000369641.3_Missense_Mutation_p.W20L|FAM3A_ENST00000359889.5_Missense_Mutation_p.W20L|FAM3A_ENST00000447601.2_Missense_Mutation_p.W20L|FAM3A_ENST00000369643.1_Missense_Mutation_p.W20L	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	20						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCACGATCCATGTGACACC	0.597000													15	3					1.05317e-09	1.14548e-09	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142568009	142568009	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:142568009C>G	ENST00000392957.2	+	18	3437	c.2650C>G	c.(2650-2652)Cca>Gca	p.P884A	EPHB6_ENST00000411471.2_Missense_Mutation_p.P607A|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.P884A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	884	Poly-Pro.|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCCCGCCTCCAGGCTGTCC	0.527000													37	113					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123789	135123789	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:135123789G>A	ENST00000359035.3	+	4	554	c.551G>A	c.(550-552)aGa>aAa	p.R184K	ZNF511_ENST00000368554.4_Missense_Mutation_p.R119K|ZNF511_ENST00000361518.5_Missense_Mutation_p.R184K|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AAGAAAAGCAGAAGGTAGGGA	0.502000													6	49					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53955975	53955975	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:53955975C>T	ENST00000263634.3	-	5	612	c.478G>A	c.(478-480)Gag>Aag	p.E160K	ASB3_ENST00000406625.2_Missense_Mutation_p.E195K|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E87K|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E198K|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E87K|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		195					intracellular signal transduction												TTTATGATCTCAGCATTTTCC	0.323000													10	27					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058671	146058671	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:146058671G>C	ENST00000454497.2	-	21	3198	c.3061C>G	c.(3061-3063)Cag>Gag	p.Q1021E	OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1086E|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1085							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGATGGTACTGATAACCTTCA	0.507000													17	98					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841903	94841903	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:94841903G>T	ENST00000357742.4	+	1	409	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.G137C|MCTP2_ENST00000543482.1_Missense_Mutation_p.G137C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	137					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTCCAGCAACGGCATCTTTGA	0.537000													11	80					2.80697e-09	3.04572e-09	1	1	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850304	98850304	+	RNA	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:98850304T>C	ENST00000554295.1	-	0	619					NR_033801.1																						CTTTAAGCTGTATCCAGCATG	0.418000													16	14					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387228	104387228	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:104387228C>T	ENST00000360814.4	-	10	1227	c.822G>A	c.(820-822)ctG>ctA	p.L274L	GLT8D2_ENST00000546436.1_Silent_p.L274L|GLT8D2_ENST00000548660.1_Silent_p.L274L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	274						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAAACACAATCAGCATTGGGG	0.458000													17	19					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5948587	5948587	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:5948587G>A	ENST00000379999.5	+	4	1002	c.898G>A	c.(898-900)Gac>Aac	p.D300N	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.D249N	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	249					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GATCATCAGTGACCCGCTGGT	0.507000													17	62					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130914852	130914852	+	Missense_Mutation	SNP	C	C	A	rs140119402		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:130914852C>A	ENST00000409031.1	-	12	2334	c.1186G>T	c.(1186-1188)Gcc>Tcc	p.A396S	SMPD4_ENST00000431183.2_Missense_Mutation_p.A294S|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000452225.2_Missense_Mutation_p.A137S|SMPD4_ENST00000453750.1_Missense_Mutation_p.A145S|SMPD4_ENST00000339679.7_Missense_Mutation_p.A254S|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.A367S|SMPD4_ENST00000443958.2_Missense_Mutation_p.A60S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	357					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGGCTGGTGGCGTGGGAGTGG	0.657000													2	3					0.0016	0.00163841	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155210581	155210581	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:155210581C>G	ENST00000460012.1	-	18	2511	c.2154G>C	c.(2152-2154)ctG>ctC	p.L718L	PLCH1_ENST00000340059.7_Silent_p.L736L|PLCH1_ENST00000414191.1_Silent_p.L718L|PLCH1_ENST00000334686.6_Silent_p.L718L|PLCH1_ENST00000447496.2_Silent_p.L736L|PLCH1_ENST00000494598.1_Silent_p.L736L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	736					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATAACTTTCAGGATGAGCT	0.453000													20	70					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40133519	40133519	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:40133519G>A	ENST00000261435.6	+	13	5042	c.4626G>A	c.(4624-4626)gtG>gtA	p.V1542V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1542						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATTTTCTGGTGGACATTTTCA	0.368000													9	78					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298217	120298217	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:120298217C>T	ENST00000369406.3	-	6	1069	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.G298G	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	340					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCAGCTTTAGCCCCCTGTGAG	0.547000													5	625					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1795683	1795683	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:1795683G>C	ENST00000399161.2	-	25	4264	c.3517C>G	c.(3517-3519)Cta>Gta	p.L1173V	MYT1L_ENST00000428368.2_Missense_Mutation_p.L1171V|MYT1L_ENST00000407844.1_Missense_Mutation_p.L171V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1173					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTTCCAGTAGGGCTTTATTT	0.378000													7	58					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631027	21631027	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:21631027C>T	ENST00000328843.6	+	14	2530	c.2499C>T	c.(2497-2499)aaC>aaT	p.N833N	DNAH11_ENST00000409508.3_Silent_p.N833N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	833	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACAGAAAAACGTGAAGGTGA	0.602000									Kartagener syndrome				6	35					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462060	5462060	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:5462060G>C	ENST00000296564.7	+	13	2835	c.2613G>C	c.(2611-2613)caG>caC	p.Q871H		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	871										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAGGTTCAGAGTGCCAAAT	0.403000													18	52					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48147473	48147473	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:48147473T>A	ENST00000381501.3	-	13	1362	c.1205A>T	c.(1204-1206)gAa>gTa	p.E402V	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	402	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CATTGCACCTTCCCGAATAGC	0.453000													18	141					0	0	1	0	0
NEIL2	252969	broad.mit.edu	37	8	11637118	11637118	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:11637118G>C	ENST00000284503.6	+	3	749	c.150G>C	c.(148-150)aaG>aaC	p.K50N	NEIL2_ENST00000436750.3_Missense_Mutation_p.K50N|NEIL2_ENST00000455213.2_Missense_Mutation_p.K50N|NEIL2_ENST00000403422.3_5'UTR|NEIL2_ENST00000528323.1_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	50					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)		TCCATGGAAAGAAATTATTCC	0.473000								Base excision repair (BER), DNA glycosylases					16	57					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145533521	145533521	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:145533521G>C	ENST00000394434.2	-	11	1254	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C	LARS_ENST00000545646.1_Missense_Mutation_p.S317C|LARS_ENST00000510191.1_Missense_Mutation_p.S309C|LARS_ENST00000274562.9_Missense_Mutation_p.S336C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	363	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TAAAGGTGCAGAAAGTGATGC	0.279000													8	25					0	0	1	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060907	90060907	+	RNA	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:90060907G>T	ENST00000436451.2	+	0	321																											AGTGGCAGTGGATCTGGGACA	0.493000													46	43					1.46156e-29	1.64878e-29	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561727	11561727	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:11561727G>C	ENST00000294484.6	+	2	816	c.678G>C	c.(676-678)ctG>ctC	p.L226L	PTCHD2_ENST00000389575.3_Silent_p.L226L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	226					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCAGCGGCTGAGCAAGAATG	0.687000													3	5					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276895	95276895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:95276895G>T	ENST00000371485.3	+	6	1187	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	295					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCAACATCTGGAAGATGATAG	0.368000													16	48					2.23348e-06	2.35603e-06	1	1	0
ETHE1	23474	broad.mit.edu	37	19	44012177	44012177	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:44012177G>C	ENST00000600651.1	-	6	654	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	ETHE1_ENST00000292147.2_Missense_Mutation_p.L211V			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	211						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CGAGGGTTCAGAGTCCTCTCC	0.557000													4	16					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487586	63487586	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63487586G>C	ENST00000377819.5	+	3	1766	c.1612G>C	c.(1612-1614)Gaa>Caa	p.E538Q	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E519Q|RTN3_ENST00000540798.1_Missense_Mutation_p.E426Q	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	538					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGGTGAAAGAGAAATCAAAGA	0.363000													12	47					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160253787	160253787	+	Missense_Mutation	SNP	G	G	C	rs149086317	by1000genomes	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:160253787G>C	ENST00000264431.4	+	11	2009	c.1590G>C	c.(1588-1590)agG>agC	p.R530S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	530					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGGGAGGAAGGAACAAGCTGA	0.403000													12	37					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156646949	156646949	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:156646949G>C	ENST00000368223.3	-	1	240	c.108C>G	c.(106-108)ctC>ctG	p.L36L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	36	Coil 1A.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCGCGCTGAGCAGCTCAT	0.697000													7	25					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72806799	72806799	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:72806799C>G	ENST00000264839.7	+	3	393	c.393C>G	c.(391-393)ctC>ctG	p.L131L	RIMS1_ENST00000517960.1_Silent_p.L131L|RIMS1_ENST00000520567.1_Silent_p.L131L|RIMS1_ENST00000521978.1_Silent_p.L131L|RIMS1_ENST00000518273.1_Silent_p.L131L|RIMS1_ENST00000522291.1_Silent_p.L131L|RIMS1_ENST00000491071.2_Silent_p.L131L|RIMS1_ENST00000348717.5_Silent_p.L131L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	131	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L131L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGGTCATCTCTGCTCCTATT	0.527000													25	18					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164410	34164410	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:34164410G>A	ENST00000373381.4	-	24	4044	c.3868C>T	c.(3868-3870)Ctg>Ttg	p.L1290L	CSMD2_ENST00000373380.1_Silent_p.L163L|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1250	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACACAGCAGCTCCTCACTA	0.602000													12	22					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172017794	172017794	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:172017794C>G	ENST00000358155.4	+	10	1415	c.1239C>G	c.(1237-1239)gtC>gtG	p.V413V	DNM3_ENST00000355305.5_Silent_p.V413V|DNM3_ENST00000520906.1_Silent_p.V413V|DNM3_ENST00000367733.2_Silent_p.V413V|DNM3_ENST00000367731.1_Silent_p.V413V	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	413					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGCGATAGTCAAGAAACAGA	0.363000													3	27					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47425290	47425290	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:47425290C>T	ENST00000404338.3	+	1	3358	c.3358C>T	c.(3358-3360)Cgg>Tgg	p.R1120W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1120					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CATCACCATTCGGAATATCAA	0.507000													4	29					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524190	43524190	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:43524190C>T	ENST00000400424.2	+	9	1692	c.1296C>T	c.(1294-1296)cgC>cgT	p.R432R	C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408910.2_Silent_p.R504R|UMODL1_ENST00000400427.1_Silent_p.R432R|UMODL1_ENST00000408989.2_Silent_p.R504R	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGACACGCGTGCAAGGTA	0.577000													8	17					0	0	1	0	0
GNMT	27232	broad.mit.edu	37	6	42930899	42930899	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:42930899G>A	ENST00000372808.3	+	4	551	c.541G>A	c.(541-543)Gac>Aac	p.D181N		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	181					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TCGCAACTACGACCACATCCT	0.627000													3	20					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111518	41111518	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:41111518C>T	ENST00000308370.7	+	6	851	c.851C>T	c.(850-852)tCg>tTg	p.S284L	LTBP4_ENST00000396819.3_Missense_Mutation_p.S217L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.S247L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	284					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGATGCCTCGGGCTTCGGT	0.756000													3	13					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9552472	9552472	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:9552472C>G	ENST00000360635.3	-	5	1110	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.E72Q|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.E72Q|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.E72Q|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.E72Q|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.E72Q			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	72	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTCAGTTTCTCAATGGCACCA	0.363000													4	98					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725291	10725291	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:10725291G>A	ENST00000377022.3	-	5	671	c.354C>T	c.(352-354)ccC>ccT	p.P118P	CASZ1_ENST00000344008.5_Silent_p.P118P|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGACACCCTCGGGAGGCAGCT	0.677000													8	24					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77323183	77323183	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:77323183G>C	ENST00000282849.5	-	22	3946	c.3528C>G	c.(3526-3528)ttC>ttG	p.F1176L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1176	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGCTGGACAGAAGTTTGTAT	0.468000													20	73					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99722395	99722395	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:99722395G>C	ENST00000262932.3	+	6	763	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	211	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATGGGGAAGAGAAAACAga	0.502000													29	18					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99699366	99699366	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:99699366C>T	ENST00000429084.1	+	1	187	c.29C>T	c.(28-30)tCc>tTc	p.S10F	AP4M1_ENST00000478501.1_3'UTR|MCM7_ENST00000343023.6_5'UTR|AP4M1_ENST00000359593.4_Missense_Mutation_p.S10F|AP4M1_ENST00000421755.1_Missense_Mutation_p.S10F|MCM7_ENST00000303887.5_5'UTR			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	10					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTCTGTCCTCCAAGGGGGAC	0.637000													15	72					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47919398	47919398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:47919398C>A	ENST00000276054.4	-	5	995	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Nonsense_Mutation_p.E145*|ZNF630_ENST00000442455.3_Nonsense_Mutation_p.E131*			Q2M218	ZN630_HUMAN	zinc finger protein 630	145	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTCAATGTTTCACGACTGATG	0.378000													10	22					7.48243e-07	7.94826e-07	1	1	0
GPN2	54707	broad.mit.edu	37	1	27212530	27212530	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:27212530G>C	ENST00000374135.4	-	3	863	c.663C>G	c.(661-663)ctC>ctG	p.L221L	GPN2_ENST00000374133.3_Silent_p.L42L	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	221							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTTCTCATTGAGCTGGCGGT	0.522000													30	17					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76894488	76894488	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:76894488G>A	ENST00000356260.5	-	8	811	c.693C>T	c.(691-693)gaC>gaT	p.D231D	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.D194D	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	231					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGGAGTCACTGTCCTGTTTTT	0.363000													23	45					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420049	49420049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:49420049C>A	ENST00000301067.7	-	48	15699	c.15700G>T	c.(15700-15702)Gag>Tag	p.E5234*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGTTGTTCTCACCAATAGAA	0.597000													18	29					5.3912e-06	5.66512e-06	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53880265	53880265	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:53880265T>G	ENST00000267079.2	-	4	713	c.488A>C	c.(487-489)aAg>aCg	p.K163T	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K196T|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K196T|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	163	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCGCAAGTGCTTGATGTCGGT	0.592000													10	32					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23703541	23703541	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:23703541C>T	ENST00000256797.4	-	18	2524	c.2356G>A	c.(2356-2358)Gct>Act	p.A786T	ERN2_ENST00000457008.2_Missense_Mutation_p.A686T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	738	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGACAGGGAGCCCCTGTGAGG	0.607000													11	75					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69647234	69647234	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:69647234G>A	ENST00000212015.6	+	2	543	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	164	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TGAAAGTGATGAGGAGGATAG	0.418000													11	53					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49064004	49064004	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49064004C>T	ENST00000326739.4	-	8	897	c.858G>A	c.(856-858)atG>atA	p.M286I		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	286					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TGTACTTGATCATATTGATCT	0.483000													10	7					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462539	224462539	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:224462539C>G	ENST00000305409.2	-	2	1694	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	488					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTCTGTTTTCAACATGTGGA	0.438000													24	38					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548690	165548690	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:165548690C>T	ENST00000264381.3	-	2	298	c.132G>A	c.(130-132)atG>atA	p.M44I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	44					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTGTCAAGTTCATCCCTCTGA	0.418000													6	56					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132527	58132527	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:58132527T>G	ENST00000396161.5	+	3	1350	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	347						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTTGAGTGCATTGAATGCGGG	0.428000													29	150					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326653	158326653	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:158326653G>C	ENST00000444681.2	+	5	1130	c.837G>C	c.(835-837)aaG>aaC	p.K279N	CD1E_ENST00000368163.3_Missense_Mutation_p.K311N|CD1E_ENST00000368156.1_Missense_Mutation_p.K276N|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.K134N|CD1E_ENST00000368167.3_Missense_Mutation_p.K378N|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.K366N|CD1E_ENST00000368165.3_Missense_Mutation_p.K288N|CD1E_ENST00000368166.3_Missense_Mutation_p.K177N|CD1E_ENST00000452291.2_Missense_Mutation_p.K189N|CD1E_ENST00000368157.1_Missense_Mutation_p.K122N|CD1E_ENST00000368155.3_Missense_Mutation_p.K221N	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	378	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGTATTGAAGAAGTGGAAGA	0.433000													17	87					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473488	56473488	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:56473488G>C	ENST00000291971.3	+	4	2169	c.2098G>C	c.(2098-2100)Gca>Cca	p.A700P	NLRP8_ENST00000590542.1_Missense_Mutation_p.A700P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	700						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTTGCAACGAATGA	0.512000													21	97					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91646413	91646413	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:91646413C>G	ENST00000359028.2	+	13	4095	c.3870C>G	c.(3868-3870)agC>agG	p.S1290R	AKAP9_ENST00000356239.3_Missense_Mutation_p.S1278R|AKAP9_ENST00000358100.2_Missense_Mutation_p.S1290R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1290					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACGACTAAGCAAGGTCTGTG	0.318000			T	BRAF	papillary thyroid								23	22					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161945	132161945	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:132161945G>A	ENST00000511190.1	-	6	773	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	USP26_ENST00000406273.1_Missense_Mutation_p.H102Y|USP26_ENST00000370832.1_Missense_Mutation_p.H102Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	102					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCGTTTTGATGAACTCTGTCC	0.383000													18	15					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21157160	21157160	+	Splice_Site	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:21157160T>G	ENST00000382778.4	+	4	1298		c.e4+2		IFT88_ENST00000537103.1_Splice_Site|IFT88_ENST00000319980.6_Splice_Site|IFT88_ENST00000351808.5_Splice_Site			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)						cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGACCTCCAGTAAGTGAAAAA	0.318000													8	26					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148765	45148765	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:45148765C>T	ENST00000458659.2	-	1	1936	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E	TSC22D1_ENST00000501704.2_Silent_p.E482E	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	482					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)		TTCCCACACTCTCTGTATAGT	0.502000													14	10					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892752	74892752	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:74892752C>G	ENST00000241436.4	+	13	2406	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.S547C|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.S547C|POLK_ENST00000380481.3_Missense_Mutation_p.S655C	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	745					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CATCAGAATTCTTCTTCTACT	0.368000								DNA polymerases (catalytic subunits)					30	23					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54019226	54019226	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:54019226G>A	ENST00000338154.6	-	14	2177	c.1673C>T	c.(1672-1674)cCa>cTa	p.P558L	PHF8_ENST00000322659.8_Missense_Mutation_p.P558L|PHF8_ENST00000338946.6_Missense_Mutation_p.P457L|PHF8_ENST00000357988.5_Missense_Mutation_p.P594L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	594					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCCAAGTCTGGTGAGTCGTC	0.522000													4	15					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19956853	19956853	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:19956853A>C	ENST00000295824.9	-	5	1391	c.1230T>G	c.(1228-1230)ttT>ttG	p.F410L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.F280L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	410					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCCTTCTTTAAATACTTCTT	0.358000													54	61					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113498568	113498568	+	Silent	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:113498568A>C	ENST00000541405.1	-	8	1867	c.1344T>G	c.(1342-1344)tcT>tcG	p.S448S	CKAP2L_ENST00000302450.6_Silent_p.S613S|NT5DC4_ENST00000327581.4_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	613						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CAGCAACTAAAGAGTCAGAAG	0.363000													26	86					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158621223	158621223	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:158621223G>C	ENST00000368147.4	-	24	3591	c.3411C>G	c.(3409-3411)atC>atG	p.I1137M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACCTTGTTGATATCCCTTA	0.438000													49	234					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887595	52887595	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:52887595C>G	ENST00000422689.2	+	4	777	c.762C>G	c.(760-762)ctC>ctG	p.L254L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	254					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAATTTCACTCCTTGCACGAC	0.393000													5	35					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231102947	231102947	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:231102947G>C	ENST00000392045.3	+	3	371	c.257G>C	c.(256-258)aGa>aCa	p.R86T	SP140_ENST00000486687.2_Missense_Mutation_p.R86T|SP140_ENST00000417495.3_Missense_Mutation_p.R86T|SP140_ENST00000343805.6_Missense_Mutation_p.R86T|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.R66T|SP140_ENST00000373645.3_Missense_Mutation_p.R86T|SP140_ENST00000420434.3_Missense_Mutation_p.R86T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	86	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGCTTTTAGAAACCTGGTC	0.368000													14	20					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28009853	28009853	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:28009853C>G	ENST00000381116.1	-	7	1030	c.796G>C	c.(796-798)Gac>Cac	p.D266H	MTIF3_ENST00000431572.2_Missense_Mutation_p.D266H|MTIF3_ENST00000405591.2_Missense_Mutation_p.D266H|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.D266H			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	266					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTCCATGGTCTTTGTTCAAA	0.383000													28	50					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158564	26158564	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:26158564C>G	ENST00000289316.2	+	1	191	c.167C>G	c.(166-168)tCt>tGt	p.S56C	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	56					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCGGCATCTCTTCCAAGGCA	0.567000													61	341					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110479732	110479732	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:110479732C>G	ENST00000260283.4	-	9	1035	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E225Q|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E215Q|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E225Q|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E215Q|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E228Q	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	251	Ras-associating.				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)		GGAGCCTCTTCTTTGCCAGAA	0.353000													22	143					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58144740	58144740	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:58144740C>T	ENST00000257904.6	-	4	853	c.488G>A	c.(487-489)aGa>aAa	p.R163K	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R43K	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	163	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCTGTAGATTCTGGCCAGGCC	0.498000			Mis			melanoma			Hereditary Melanoma				14	31					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650732	67650732	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:67650732C>A	ENST00000264010.4	+	5	1481	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	CTCF_ENST00000401394.1_Missense_Mutation_p.T18N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	346					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)		TACAAACACACCCACGAGAAG	0.478000													32	125					1.36239e-07	1.4597e-07	1	1	0
ASB6	140459	broad.mit.edu	37	9	132400070	132400070	+	Nonstop_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:132400070C>G	ENST00000277458.4	-	6	1430	c.1265G>C	c.(1264-1266)tGa>tCa	p.*422S	ASB6_ENST00000450050.2_Nonstop_Mutation_p.*343S|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	0					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TGAGACCTATCAGATGTCATC	0.572000													18	21					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786107	99786107	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:99786107G>A	ENST00000426455.1	+	6	872	c.465G>A	c.(463-465)atG>atA	p.M155I	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.M155I	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	155					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAAGAAGATGTCCAACTCAG	0.408000													41	211					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39509681	39509681	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:39509681A>C	ENST00000263881.3	-	22	1926	c.1602T>G	c.(1600-1602)aaT>aaG	p.N534K	MAP4K3_ENST00000536018.1_Missense_Mutation_p.N87K|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N450K|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N513K	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	534					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GAGGAAGACCATTACTAATAG	0.313000													60	110					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90622891	90622891	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:90622891G>C	ENST00000268154.4	+	5	2076		c.e5-1		RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CTCTCTTACAGACCCCATGAT	0.602000													5	19					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490392	65490392	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:65490392C>A	ENST00000261883.4	-	9	2398	c.2232G>T	c.(2230-2232)ctG>ctT	p.L744L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	744					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGGAACATCCAGGTTAAAGA	0.493000													23	75					3.5997e-14	3.9883e-14	1	1	0
LACTB	114294	broad.mit.edu	37	15	63419769	63419769	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:63419769C>G	ENST00000413507.2	+	4	872	c.833C>G	c.(832-834)tCa>tGa	p.S278*	LACTB_ENST00000261893.4_Nonsense_Mutation_p.S278*|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	278						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGCCGGAATTCAAAACCTGGC	0.294000													20	35					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393596	139393596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:139393596G>C	ENST00000277541.6	-	32	6125	c.6050C>G	c.(6049-6051)tCa>tGa	p.S2017*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2017					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGGCGTGTGAGTTGATGAG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	19					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116085364	116085364	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:116085364C>G	ENST00000374193.4	-	6	642	c.396G>C	c.(394-396)ttG>ttC	p.L132F	WDR31_ENST00000341761.4_Missense_Mutation_p.L131F|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.L7F	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	132								p.H133fs*76(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGGAACCGTGCAAGTCCCACA	0.512000													7	16					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78014039	78014039	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:78014039G>A	ENST00000397545.4	+	3	549	c.522G>A	c.(520-522)caG>caA	p.Q174Q	CCDC40_ENST00000269318.5_Silent_p.Q174Q|CCDC40_ENST00000374876.4_Silent_p.Q174Q|CCDC40_ENST00000374877.3_Silent_p.Q174Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	174					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAATGGGCCAGGTCACCTCTG	0.607000													5	26					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57624779	57624779	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:57624779C>G	ENST00000328923.3	+	2	679	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SHMT2_ENST00000553474.1_Nonsense_Mutation_p.S55*|SHMT2_ENST00000557487.1_Nonsense_Mutation_p.S76*|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000449049.3_Nonsense_Mutation_p.S55*|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Nonsense_Mutation_p.S55*	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	76						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCATTGCCTCAGAGGTGGGA	0.552000													9	19					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147086363	147086363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:147086363C>T	ENST00000234739.3	+	6	1248	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	170					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACACCTGCTCAGAAGACTCC	0.547000			T	"""IGH@, IGL@"""	B-ALL								21	62					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854657	234854657	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:234854657C>G	ENST00000324695.4	+	7	897	c.857C>G	c.(856-858)tCt>tGt	p.S286C	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	286						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGTATATCTCTGAGCGCACT	0.473000													6	19					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39967517	39967517	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:39967517C>A	ENST00000308666.3	-	9	2139		c.e9+1			NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2						fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GAAACACTTACCAAAGAGAAG	0.378000													8	15					5.18039e-06	5.44779e-06	1	1	0
FXR2	9513	broad.mit.edu	37	17	7504834	7504834	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:7504834C>G	ENST00000250113.7	-	7	887	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	185						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACAGGGGCTTCTGTGGTTGAC	0.498000													104	11					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307043	39307043	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:39307043C>A	ENST00000541347.1	-	2	1197	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	CX3CR1_ENST00000358309.3_Missense_Mutation_p.V352F|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V320F|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V320F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	320					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCAACGTGGACTGAGCGCCCA	0.478000													24	405					9.95505e-16	1.11109e-15	1	1	0
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:120875952C>A	ENST00000229379.2	+	1	60	c.23C>A	c.(22-24)tCg>tAg	p.S8*		NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637000													7	8					2.17888e-05	2.27731e-05	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114092178	114092178	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:114092178C>G	ENST00000369615.1	+	2	420	c.358C>G	c.(358-360)Cag>Gag	p.Q120E	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000307546.9_Missense_Mutation_p.Q120E|MAGI3_ENST00000369617.4_Missense_Mutation_p.Q120E|MAGI3_ENST00000369611.4_Missense_Mutation_p.Q120E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	120	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTAAGTCTTCAGTTTCAAAA	0.328000													9	24					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20876359	20876359	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:20876359C>G	ENST00000262715.5	-	2	280	c.240G>C	c.(238-240)caG>caC	p.Q80H	TEP1_ENST00000556935.1_Missense_Mutation_p.Q80H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	80					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGCCAGGCACTGGTTCTCCA	0.542000													13	47					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149669141	149669141	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:149669141G>C	ENST00000348628.6	-	1	713	c.48C>G	c.(46-48)ttC>ttG	p.F16L	CAMK2A_ENST00000398376.3_Missense_Mutation_p.F16L	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	16	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTCCTCGAAGAGCTGGT	0.632000													7	28					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73536836	73536836	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:73536836G>A	ENST00000339362.5	+	10	2050	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	NEO1_ENST00000560262.1_Missense_Mutation_p.E535K|NEO1_ENST00000261908.6_Missense_Mutation_p.E535K|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.E535K			Q92859	NEO1_HUMAN	neogenin 1	535					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACACAACCTGAGGGTAAGTC	0.483000													28	11					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53413805	53413805	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:53413805G>A	ENST00000262056.9	+	4	798	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.E158K	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	158	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGTCTCAATGAAGAGGTAAA	0.428000													15	22					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220178	13220178	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:13220178G>A	ENST00000197268.8	+	7	1210	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	364						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGAAGAGCCAGAATGGGAAAA	0.483000													15	28					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121662487	121662487	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:121662487C>G	ENST00000369075.3	+	3	945	c.873C>G	c.(871-873)ttC>ttG	p.F291L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.F80L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	291	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTAGTGTGTTCGACTCTTTGA	0.363000													8	42					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488776	61488776	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:61488776C>G	ENST00000335351.3	-	4	1301	c.1209G>C	c.(1207-1209)gaG>gaC	p.E403D	TCFL5_ENST00000217162.5_Missense_Mutation_p.E355D	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	403					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGTTATGCCTCTCCCTACGTT	0.532000													43	47					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23257250	23257250	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:23257250C>T	ENST00000298032.5	+	8	832	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.H250Y|ARMC3_ENST00000409049.3_Missense_Mutation_p.H250Y	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	250							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATGACCTTCATATAGAAGC	0.368000													17	31					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:21758017C>T	ENST00000319481.3	-	21	2259	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.E172K|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.E303K	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433000													43	8					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76973997	76973997	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:76973997G>C	ENST00000426216.2	+	11	1083	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.E356Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	356					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TACCGGAAAAGAGACTCGAAG	0.338000													5	6					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30774794	30774794	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:30774794C>T	ENST00000324685.6	+	4	791	c.356C>T	c.(355-357)tCt>tTt	p.S119F	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.S119F|RNF40_ENST00000357890.5_Missense_Mutation_p.S119F	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	119					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGGAGCTGTCTTCAGCGCCT	0.557000													27	40					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29840135	29840135	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:29840135G>A	ENST00000375398.2	-	8	667	c.218C>T	c.(217-219)tCc>tTc	p.S73F	SVIL_ENST00000375400.3_Missense_Mutation_p.S73F|SVIL_ENST00000355867.4_Missense_Mutation_p.S73F			O95425	SVIL_HUMAN	supervillin	73	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCAGTATTTGGATCGAGTTTG	0.473000													18	45					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332373	70332373	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:70332373A>G	ENST00000373644.4	+	2	487	c.278A>G	c.(277-279)aAc>aGc	p.N93S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	93					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTTTTCAGAACCCAGAGTCC	0.498000													21	39					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113866262	113866262	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:113866262C>T	ENST00000403593.4	+	3	474	c.212C>T	c.(211-213)tCa>tTa	p.S71L	SDSL_ENST00000345635.4_Missense_Mutation_p.S71L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	71					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GTGTGCTCCTCAGGTGACCCC	0.552000													6	25					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984208	77984208	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:77984208G>C	ENST00000310924.2	-	3	645	c.530C>G	c.(529-531)tCg>tGg	p.S177W		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	177						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGCAGGCTGCGAGGCTGGCTG	0.701000													7	6					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259025	151259025	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:151259025C>G	ENST00000368879.2	+	2	356	c.258C>G	c.(256-258)gtC>gtG	p.V86V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGTCATTGTCAAGAACACTG	0.622000													14	86					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6487435	6487435	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:6487435G>T	ENST00000297056.6	-	1	208	c.39C>A	c.(37-39)atC>atA	p.I13I	DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_5'UTR|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000425398.2_Silent_p.I13I	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	13					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGTCGCTGGCGATGGCCCAGC	0.677000													7	11					2.7689e-08	2.99014e-08	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113351691	113351691	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:113351691G>C	ENST00000458497.1	+	11	1267	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	ALPK1_ENST00000504176.2_Missense_Mutation_p.E252Q|ALPK1_ENST00000177648.9_Missense_Mutation_p.E330Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	330							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAAGCCAAAGAGGCCTTTGA	0.448000													7	26					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112896280	112896280	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:112896280C>T	ENST00000331203.2	+	1	319	c.48C>T	c.(46-48)ctC>ctT	p.L16L	FBLN7_ENST00000409450.3_Silent_p.L16L|FBLN7_ENST00000409903.1_Silent_p.L16L|FBLN7_ENST00000409667.3_Silent_p.L16L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	16					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCTGATCCTCGCCTGCCCCG	0.677000													6	26					0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684320	26684320	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:26684320G>A	ENST00000540200.1	-	2	151	c.152C>T	c.(151-153)tCg>tTg	p.S51L	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	52						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCACCGGGACGAGAGGTGCCT	0.736000													11	4					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60050459	60050459	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:60050459C>G	ENST00000505959.1	-	11	1325	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ELOVL7_ENST00000508821.1_Missense_Mutation_p.D280H|ELOVL7_ENST00000438340.1_Missense_Mutation_p.D280H|ELOVL7_ENST00000425382.1_Missense_Mutation_p.D280H			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	280					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTTCAATTATCTTTGTTTTTG	0.363000													7	23					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31188814	31188814	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:31188814G>C	ENST00000373765.4	-	5	1184	c.1149C>G	c.(1147-1149)ttC>ttG	p.F383L		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	383	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATCAGTGAAGACAATGC	0.572000													14	36					0	0	1	0	0
COPE	11316	broad.mit.edu	37	19	19014200	19014200	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:19014200G>C	ENST00000600932.1	-	8	712	c.681C>G	c.(679-681)atC>atG	p.I227M	COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Intron|COPE_ENST00000351079.4_Missense_Mutation_p.I153M|COPE_ENST00000262812.4_Missense_Mutation_p.I204M			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	204					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCTCCTGGAAGATGTAGTAGG	0.692000													7	15					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191857	67191857	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:67191857G>A	ENST00000445895.2	+	9	2752	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	CARNS1_ENST00000423745.2_Missense_Mutation_p.E757K|CARNS1_ENST00000307823.3_Missense_Mutation_p.E757K|CARNS1_ENST00000531040.1_Missense_Mutation_p.E854K			A5YM72	CRNS1_HUMAN	carnosine synthase 1	757					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CGCCAGCCGTGAGACCCTGCA	0.672000													6	8					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218049	132218049	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:132218049C>G	ENST00000260818.6	+	37	4484	c.4236C>G	c.(4234-4236)ttC>ttG	p.F1412L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1412							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCTCCTTTTCTCAAAAGAAT	0.418000													30	31					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100704857	100704857	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:100704857G>T	ENST00000360820.2	+	5	953	c.516G>T	c.(514-516)gtG>gtT	p.V172V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	172	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATAGCAGTGTGAAAATGGTGC	0.303000													23	42					7.38237e-10	8.04224e-10	1	1	0
ZPBP2	124626	broad.mit.edu	37	17	38027760	38027760	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:38027760G>T	ENST00000377940.3	+	3	361	c.222G>T	c.(220-222)gtG>gtT	p.V74V	ZPBP2_ENST00000584588.1_Silent_p.V96V|ZPBP2_ENST00000348931.4_Silent_p.V96V	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	96					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTGATGGTGAAAGATTTTT	0.284000													23	128					3.08376e-08	3.32229e-08	1	1	0
MAP10	54627	broad.mit.edu	37	1	232942750	232942750	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:232942750G>A	ENST00000418460.1	+	1	2108	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GGTGGTACATGAAAAAAGAGA	0.348000													6	10					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79846238	79846238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:79846238C>G	ENST00000331204.4	-	5	664	c.638G>C	c.(637-639)gGa>gCa	p.G213A	ALYREF_ENST00000505490.2_Missense_Mutation_p.G220A	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	213	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CCGGGTGCCTCCACCACCACC	0.612000													7	25					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732820	144732820	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:144732820G>C	ENST00000501748.2	+	1	867	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	ZNF623_ENST00000458270.2_Missense_Mutation_p.E220Q|ZNF623_ENST00000526926.1_Missense_Mutation_p.E220Q	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCACACGGGAGAAAGGCCCTA	0.463000													12	67					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188186	57188186	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:57188186G>A	ENST00000331162.4	-	5	1206	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTGGTCAGTGAGGGTTGAGG	0.463000													62	57					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50867065	50867065	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:50867065A>G	ENST00000313478.7	-	34	5284	c.5003T>C	c.(5002-5004)cTg>cCg	p.L1668P	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.L1667P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1668	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAGAGATGCAGAACTGTATC	0.299000													25	35					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56569117	56569117	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:56569117G>C	ENST00000323456.5	-	19	3619	c.3495C>G	c.(3493-3495)gtC>gtG	p.V1165V	MTMR4_ENST00000579925.1_Silent_p.V1108V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1165						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGAGTTACAGACGAGAACTG	0.478000													23	39					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588094	110588094	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:110588094G>C	ENST00000399066.3	-	6	1751	c.1024C>G	c.(1024-1026)Cgg>Ggg	p.R342G	SYBU_ENST00000433638.1_Missense_Mutation_p.R345G|SYBU_ENST00000529175.1_Missense_Mutation_p.R139G|SYBU_ENST00000408908.2_Missense_Mutation_p.R345G|SYBU_ENST00000440310.1_Missense_Mutation_p.R345G|SYBU_ENST00000424158.2_Missense_Mutation_p.R350G|SYBU_ENST00000419099.1_Missense_Mutation_p.R344G|SYBU_ENST00000528647.1_Missense_Mutation_p.R344G|SYBU_ENST00000276646.9_Missense_Mutation_p.R345G|SYBU_ENST00000533895.1_Missense_Mutation_p.R344G|SYBU_ENST00000529690.1_Missense_Mutation_p.R215G|SYBU_ENST00000408889.3_Missense_Mutation_p.R226G|SYBU_ENST00000533065.1_Missense_Mutation_p.R226G|SYBU_ENST00000528331.1_Missense_Mutation_p.R226G|SYBU_ENST00000422135.1_Missense_Mutation_p.R345G|SYBU_ENST00000533171.1_Missense_Mutation_p.R345G|SYBU_ENST00000532779.1_Missense_Mutation_p.R277G|SYBU_ENST00000446070.2_Missense_Mutation_p.R344G	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	345	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGCTGCTCCGCATGGTTTCG	0.463000													16	85					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416783	187416783	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:187416783A>C	ENST00000358241.1	-	2	609	c.181T>G	c.(181-183)Tgc>Ggc	p.C61G		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	61					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GTGTGCCAGCACCAGGAGCAG	0.627000													8	20					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4763509	4763509	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:4763509G>T	ENST00000266544.5	+	2	121	c.101G>T	c.(100-102)cGc>cTc	p.R34L	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	34					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCACCCTGTCGCCAGCTTCAT	0.488000													13	42					0.00010058	0.00010393	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994748	11994748	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:11994748G>C	ENST00000333796.3	-	1	1838	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	508					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L508V(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTCCCTTGCAGAGAAGCGAGG	0.542000													35	98					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548312	22548312	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:22548312C>T	ENST00000317216.2	-	2	1195	c.838G>A	c.(838-840)Gag>Aag	p.E280K	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.E242K	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	280					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TCGCAGCCCTCGGCCGGGCAC	0.711000													18	20					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46691074	46691074	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:46691074G>C	ENST00000434074.1	+	16	2157	c.1468G>C	c.(1468-1470)Gaa>Caa	p.E490Q	ATG13_ENST00000524625.1_Missense_Mutation_p.E453Q|ATG13_ENST00000312040.4_Missense_Mutation_p.E490Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E523Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E490Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E453Q|ATG13_ENST00000529655.1_Missense_Mutation_p.E453Q|ATG13_ENST00000530500.1_Missense_Mutation_p.E374Q|ATG13_ENST00000526508.1_Missense_Mutation_p.E490Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	490					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						GTCCATGGCTGAAGACTTGGT	0.502000													10	53					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444606	78444606	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:78444606A>G	ENST00000397909.2	+	11	2368	c.2195A>G	c.(2194-2196)aAc>aGc	p.N732S	NAV3_ENST00000266692.7_Missense_Mutation_p.N732S|NAV3_ENST00000536525.2_Missense_Mutation_p.N732S|NAV3_ENST00000228327.6_Missense_Mutation_p.N732S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	732						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCATACCCAACTTGACAAGT	0.527000										HNSCC(70;0.22)			15	30					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708443	141708443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:141708443G>T	ENST00000475668.2	+	3	319	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.E89*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	89	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCTGCTGAATGTCCAGT	0.448000													13	23					1.3612e-06	1.44258e-06	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113304928	113304928	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:113304928C>A	ENST00000297405.5	-	55	8870	c.8626G>T	c.(8626-8628)Ggt>Tgt	p.G2876C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2806C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2836C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2707C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2876	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGGGTGACCACAGCTAACA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	48					0.00198382	0.00202992	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11854846	11854846	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:11854846G>C	ENST00000376592.1	-	6	1234	c.1106C>G	c.(1105-1107)tCc>tGc	p.S369C	MTHFR_ENST00000376585.1_Missense_Mutation_p.S410C|MTHFR_ENST00000376583.3_Missense_Mutation_p.S410C|MTHFR_ENST00000376590.3_Missense_Mutation_p.S369C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	369					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTTTGGTCTGGAGGCCCAGAA	0.582000													12	38					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219182	56219182	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:56219182C>G	ENST00000381226.3	-	13	1456	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	MIER3_ENST00000381199.3_Missense_Mutation_p.E476Q|MIER3_ENST00000381213.3_Missense_Mutation_p.E475Q|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.E413Q			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GCTGGTCTCTCTGACTCTTCA	0.413000													19	49					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090692	31090692	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:31090692C>G	ENST00000394979.2	+	1	3470	c.3047C>G	c.(3046-3048)tCt>tGt	p.S1016C	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1016C			O15015	ZN646_HUMAN	zinc finger protein 646	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AATTCTGTCTCTGGAGAGGGT	0.587000													54	81					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101629873	101629873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:101629873G>C	ENST00000311812.2	-	5	557	c.407C>G	c.(406-408)tCa>tGa	p.S136*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	136					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCAGTGTCTGATGTTATAAT	0.388000													65	77					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106387	41106387	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:41106387C>G	ENST00000355341.4	+	11	1880	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C	ZFYVE19_ENST00000570108.1_Missense_Mutation_p.S437C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.S285C|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.S450C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.S392C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	460							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)		CACCAGACATCTGCCTACTCT	0.587000													11	38					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79430116	79430116	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:79430116G>A	ENST00000264895.6	+	63	10176	c.9736G>A	c.(9736-9738)Gaa>Aaa	p.E3246K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3241					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCTCCCTTTGAAACCATCAC	0.582000													13	21					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	439365	439365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:439365C>T	ENST00000432829.2	+	40	5312	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*	DOCK8_ENST00000382329.1_Nonsense_Mutation_p.Q1201*|DOCK8_ENST00000453981.1_Nonsense_Mutation_p.Q1734*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.Q1634*	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1734	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCCTGGAGCAGGCCGCGGA	0.652000													43	3					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002114	98002114	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:98002114A>T	ENST00000355273.2	+	1	383	c.383A>T	c.(382-384)tAt>tTt	p.Y128F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TATGATCGCTATGTAGCCATA	0.388000													19	78					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170967362	170967362	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:170967362G>A	ENST00000367759.4	+	15	1697	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	MROH9_ENST00000367758.3_Missense_Mutation_p.E515K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GCTCTCAGTAGAAGGTCCTAG	0.388000													20	43					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980331	110980331	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:110980331C>T	ENST00000524391.1	-	4	2521	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	KCNV1_ENST00000297404.1_Missense_Mutation_p.D497N			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	497						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACCAGAAATCATCTCCCCCG	0.373000													7	47					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697728	17697728	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:17697728C>G	ENST00000353383.1	+	3	1935	c.1466C>G	c.(1465-1467)tCa>tGa	p.S489*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.S489*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	489						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCGGCTACTCAGCCGAGCCC	0.657000													11	4					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30457340	30457340	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:30457340C>T	ENST00000376630.4	+	1	97	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	11					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTACTCCTCTCGGAGGCCCTG	0.637000													23	103					0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954919	117954919	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:117954919T>G	ENST00000378279.3	+	2	492	c.447T>G	c.(445-447)gaT>gaG	p.D149E	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	149																	GCCCAAAAGATGATGCTGCGA	0.512000													14	96					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90965821	90965821	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:90965821G>A	ENST00000265433.3	-	11	1650	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	NBN_ENST00000409330.1_Missense_Mutation_p.S417L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	499					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTCCACAATGAGGGTGTAGC	0.363000								Homologous recombination					13	97					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676135	95676135	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:95676135G>A	ENST00000436874.1	+	8	1148	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTCTTCAGACGGTTAGCCCTA	0.408000													8	54					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47701606	47701606	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:47701606G>C	ENST00000525123.1	-	13	2220	c.1935C>G	c.(1933-1935)caC>caG	p.H645Q	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.H645Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.H645Q|AGBL2_ENST00000528244.1_Missense_Mutation_p.H607Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	645					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CGATGGTAAAGTGGGTGTCTC	0.348000													5	84					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137746	140137746	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:140137746G>A	ENST00000340384.4	+	4	1224	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	359					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	p.R359L(1)									ATCCCACCTCGGGGGCTAAAA	0.517000													29	94					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43197695	43197695	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:43197695G>C	ENST00000322765.5	-	4	794	c.681C>G	c.(679-681)ttC>ttG	p.F227L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	227	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCCCACCTTGAAGAGGAGGT	0.582000													12	10					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156432	70156432	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:70156432C>T	ENST00000335568.5	+	5	1215	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	405					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TAACATTGCTCACATGAAGGC	0.458000													30	79					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813321	2813321	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2813321C>T	ENST00000301740.8	+	11	3341	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	931	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAAGCCATTCTGGCTCCTCT	0.488000													25	52					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308411	20308411	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:20308411G>C	ENST00000335117.8	+	4	949	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAAATGTAAAGAATGTGACAA	0.388000													12	25					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170961402	170961402	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:170961402G>A	ENST00000367759.4	+	12	1280	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	MROH9_ENST00000367758.3_Missense_Mutation_p.E376K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AAAGCCTGGGGAAATGGAGGA	0.478000													22	11					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5952975	5952975	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:5952975C>G	ENST00000379999.5	+	7	1352	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.L365L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	365					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGCGACTGCTCTTCTGCCTCC	0.612000													7	52					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155171706	155171706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:155171706G>A	ENST00000262640.6	+	7	769	c.686G>A	c.(685-687)tGg>tAg	p.W229*	VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGACAGATGGTATCTGCCA	0.383000													7	2					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112873711	112873711	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:112873711G>C	ENST00000283206.4	+	19	2028	c.1659G>C	c.(1657-1659)aaG>aaC	p.K553N		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	553						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTTCAGAAAAGATAATGTGAT	0.333000													6	24					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	156983405	156983405	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:156983405C>T	ENST00000362010.2	-	13	2482	c.2175G>A	c.(2173-2175)gaG>gaA	p.E725E	VEPH1_ENST00000392833.2_Silent_p.E680E|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.E680E|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.E725E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	725	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)			TGACTTGCTTCTCTTTAAGTT	0.368000													17	80					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167489239	167489239	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:167489239T>G	ENST00000519204.1	+	6	1239	c.1121T>G	c.(1120-1122)aTa>aGa	p.I374R	TENM2_ENST00000518659.1_Missense_Mutation_p.I495R|TENM2_ENST00000520394.1_Missense_Mutation_p.I263R|TENM2_ENST00000545108.1_Missense_Mutation_p.I495R|TENM2_ENST00000403607.2_Missense_Mutation_p.I328R					teneurin transmembrane protein 2																		GGTGTTTACATAAGAAGAGGA	0.408000													13	34					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955544	26955544	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:26955544G>T	ENST00000528896.2	-	24	4407	c.4333C>A	c.(4333-4335)Cat>Aat	p.H1445N	KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1302N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1302N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1445						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGATGTGTATGAAAGGTAGGA	0.468000													44	24					1.23103e-26	1.38529e-26	1	1	0
NEBL	10529	broad.mit.edu	37	10	21178818	21178818	+	Missense_Mutation	SNP	G	G	C	rs150000482		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:21178818G>C	ENST00000377122.4	-	3	610	c.214C>G	c.(214-216)Cct>Gct	p.P72A	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.P72A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	72					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTAGCATAGGACTGTCAGTC	0.303000													10	58					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842433	150842433	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:150842433G>T	ENST00000370357.4	+	15	2195	c.1950G>T	c.(1948-1950)gtG>gtT	p.V650V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	650						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCCCCGTGAACCAGCTGC	0.468000													41	3					1.47197e-15	1.64019e-15	1	1	0
DHX38	9785	broad.mit.edu	37	16	72139993	72139993	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:72139993G>A	ENST00000268482.3	+	19	3086	c.2577G>A	c.(2575-2577)agG>agA	p.R859R	DHX38_ENST00000536867.1_Silent_p.R171R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	859	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGCCGGCAGGACGGGCCCAG	0.652000													18	19					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17143856	17143856	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:17143856C>G	ENST00000265970.7	-	14	2535	c.2536G>C	c.(2536-2538)Gat>Cat	p.D846H	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.D466H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	846					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAATAATATCAAATGCAGGA	0.299000													15	68					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794835	126794835	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:126794835C>T	ENST00000373615.4	+	5	1809	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	357						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCAACGCCTCGCTCAGCCCC	0.642000													20	6					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93588143	93588143	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:93588143C>G	ENST00000371627.4	+	9	1463	c.1084C>G	c.(1084-1086)Caa>Gaa	p.Q362E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	362					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAAGCATCCTCAAACACATGA	0.348000													27	21					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532026	42532026	+	Silent	SNP	C	C	T	rs148632511		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:42532026C>T	ENST00000282030.5	+	4	3017	c.2721C>T	c.(2719-2721)tcC>tcT	p.S907S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	907						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATTCCGTCCGACACCAGCA	0.532000									Schinzel-Giedion syndrome				7	11					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960608	150960608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:150960608G>T	ENST00000368947.4	+	11	1215	c.739G>T	c.(739-741)Gag>Tag	p.E247*		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	247					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	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)			AGAGCTGGAGGAGGCTGTCCA	0.527000													58	24					7.93035e-42	8.96845e-42	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113538445	113538445	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:113538445C>G	ENST00000546530.1	-	21	2554	c.2269G>C	c.(2269-2271)Gag>Cag	p.E757Q	RASAL1_ENST00000548055.1_Missense_Mutation_p.E756Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.E727Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.E755Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	755					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTCTGCCTCCAGAGTTGTA	0.532000													4	37					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73067323	73067323	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:73067323C>T	ENST00000311669.8	-	2	442	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	117	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATGAAGGCTTCTTCCAGATCA	0.502000													9	29					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122943996	122943996	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:122943996T>C	ENST00000309934.4	+	3	1289	c.393T>C	c.(391-393)tcT>tcC	p.S131S	SEC22A_ENST00000492595.1_Silent_p.S131S|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	131					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ATCCCAGGTCTCTTTCAACAA	0.378000													21	59					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105237	100105237	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:100105237G>C	ENST00000372966.3	-	9	1241	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.P309A|NOX1_ENST00000217885.5_Missense_Mutation_p.P346A	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	346	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTTCCTCTGGAGCAGAGGTC	0.458000													4	5					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100043106	100043106	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:100043106G>A	ENST00000324341.1	+	2	1078	c.656G>A	c.(655-657)aGa>aAa	p.R219K	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	219										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GAGCAATTCAGAATCAGTAGA	0.393000													28	155					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185815205	185815205	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:185815205G>A	ENST00000271588.4	+	2	545	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E106K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	106	VWFA.				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						ATTTCAATATGAACTCAGAGA	0.353000													12	11					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523847	24523847	+	Silent	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:24523847T>A	ENST00000376862.3	+	2	747	c.114T>A	c.(112-114)ggT>ggA	p.G38G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	38					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCAGAGATGGTCTGGTGTCTG	0.562000													15	40					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729268	41729268	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:41729268C>T	ENST00000242208.4	-	3	1507	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E421K|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	421					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACACTCCTCCACGATCATG	0.463000										TSP Lung(11;0.080)			22	45					0	0	1	0	0
CSTA	1475	broad.mit.edu	37	3	122044200	122044200	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:122044200G>A	ENST00000479204.1	+	1	92	c.61G>A	c.(61-63)Gat>Aat	p.D21N	CSTA_ENST00000264474.3_Missense_Mutation_p.D21N			P01040	CYTA_HUMAN	cystatin A (stefin A)	21					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GGAGATTGTTGATAAGGTGAG	0.458000													5	26					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588489	93588489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:93588489G>T	ENST00000329082.7	-	4	1363	c.1092C>A	c.(1090-1092)tgC>tgA	p.C364*	RGMA_ENST00000557301.1_Nonsense_Mutation_p.C372*|RGMA_ENST00000556658.1_Nonsense_Mutation_p.C255*|RGMA_ENST00000425933.2_Nonsense_Mutation_p.C348*|RGMA_ENST00000542321.2_Nonsense_Mutation_p.C348*|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Nonsense_Mutation_p.C255*|RGMA_ENST00000543599.1_Nonsense_Mutation_p.C348*	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	364					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCTTCTCCTTGCACTTGGCCA	0.657000													4	11					0.00024832	0.000255431	1	1	0
ZYX	7791	broad.mit.edu	37	7	143085416	143085416	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:143085416G>C	ENST00000322764.5	+	6	1473	c.1128G>C	c.(1126-1128)caG>caC	p.Q376H	ZYX_ENST00000449423.2_Missense_Mutation_p.Q289H|ZYX_ENST00000392910.2_Missense_Mutation_p.Q219H	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	376					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTCAGAGGCAGAATGTGGCTG	0.667000													11	20					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21826583	21826583	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:21826583C>T	ENST00000216297.2	-	20	2643	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	769					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATTTCTCGTTCCATCTGTAGA	0.343000													6	22					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132403607	132403607	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:132403607C>G	ENST00000337331.5	-	24	3447	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1121					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTCATTTCTAAGGAACGC	0.413000													16	36					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57851161	57851161	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:57851161G>A	ENST00000262291.4	+	7	939	c.629G>A	c.(628-630)aGa>aAa	p.R210K	VMP1_ENST00000537567.1_Missense_Mutation_p.R76K|VMP1_ENST00000536180.1_Missense_Mutation_p.R113K|VMP1_ENST00000539763.1_Missense_Mutation_p.R18K|VMP1_ENST00000545362.1_Missense_Mutation_p.R154K	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	210					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTCATGGCCAGAGCAGCTCGC	0.463000													24	90					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114356	27114356	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:27114356G>C	ENST00000396891.4	-	1	263	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.I74M	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACCCGCGATGCGTTCGA	0.612000													89	248					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	953843	953843	+	Silent	SNP	G	G	A	rs137975056	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:953843G>A	ENST00000544583.2	-	15	2054	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	ABR_ENST00000291107.2_Silent_p.F494F|ABR_ENST00000574437.1_Silent_p.F485F|ABR_ENST00000536794.2_Silent_p.F313F|ABR_ENST00000302538.5_Silent_p.F531F	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	531	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CAAAATAGCCGAAGGAATCCA	0.612000													29	10					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700835	23700835	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:23700835C>T	ENST00000300093.4	+	9	1557	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552000													8	45					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329499	152329499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:152329499G>A	ENST00000388718.5	-	3	835	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	255	Ser-rich.						calcium ion binding|structural molecule activity	p.Q255K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCTTGACTGAGTAGAGTTT	0.458000													138	52					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162512	29162512	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29162512G>T	ENST00000321990.4	+	2	1791	c.1413G>T	c.(1411-1413)ctG>ctT	p.L471L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	471					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGTTTTCTGAAGGAGAAAA	0.313000													11	39					3.86212e-05	4.02734e-05	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1238301	1238301	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:1238301C>T	ENST00000354700.5	-	4	482		c.e4+1		ACAP3_ENST00000353662.3_Splice_Site	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3						filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCCGCGCTCACCATGTGGTAG	0.652000													4	11					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392823	22392823	+	RNA	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:22392823G>C	ENST00000390440.2	+	0	421																											TGCAATGAGAGAGGGCACAGT	0.517000													14	46					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21354170	21354170	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:21354170C>T	ENST00000215742.4	-	4	1103	c.929G>A	c.(928-930)tGa>tAa	p.*310*	THAP7_ENST00000399133.2_Silent_p.*310*	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCAGCCCCTCAGGCCATGCT	0.627000													16	17					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95485586	95485586	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:95485586C>G	ENST00000343958.4	-	17	3971		c.e17-1		FGD6_ENST00000546711.1_Splice_Site	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6						actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGCATACAATCTGAAAACACA	0.318000													18	63					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449702	62449702	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:62449702T>A	ENST00000301998.4	+	2	599	c.347T>A	c.(346-348)tTt>tAt	p.F116Y	B3GNT2_ENST00000405767.1_Missense_Mutation_p.F116Y	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	116						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCGGACAGATTTAAAGACTTT	0.468000													81	147					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268609	52268609	+	Missense_Mutation	SNP	C	C	A	rs17852802		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:52268609C>A	ENST00000442253.2	+	2	772	c.598C>A	c.(598-600)Cgt>Agt	p.R200S	PAQR8_ENST00000360726.3_Missense_Mutation_p.R200S	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	200					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGCCAAATATCGTTACCGGAG	0.537000													15	27					2.23348e-06	2.35603e-06	1	1	0
MTIF2	4528	broad.mit.edu	37	2	55481208	55481208	+	Silent	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:55481208T>G	ENST00000394600.3	-	8	1369	c.633A>C	c.(631-633)ggA>ggC	p.G211G	MTIF2_ENST00000263629.4_Silent_p.G211G|MTIF2_ENST00000403721.1_Silent_p.G211G	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	211	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAGTGATGCCTCCAGTTTCCA	0.413000													10	84					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828691	76828691	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:76828691C>G	ENST00000248598.5	-	1	452	c.420G>C	c.(418-420)ctG>ctC	p.L140L	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	140					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCTCAGAGGACAGCTTGTTAA	0.443000													10	65					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43277380	43277380	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:43277380G>C	ENST00000512796.1	+	3	2013	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	NIM1_ENST00000326035.2_Missense_Mutation_p.E172Q			Q8IY84	NIM1_HUMAN		172	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCTGAACCAGAAAGCAAGCT	0.542000													9	74					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435211	220435211	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:220435211G>A	ENST00000404537.1	-	1	800	c.744C>T	c.(742-744)ctC>ctT	p.L248L	OBSL1_ENST00000265318.4_Silent_p.L248L|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000491370.1_5'UTR|OBSL1_ENST00000373873.4_Silent_p.L248L|OBSL1_ENST00000603926.1_Silent_p.L248L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Silent_p.L248L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	248	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGCGCACTTGAGCGGCTCCA	0.721000													5	15					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819453	159819453	+	RNA	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:159819453G>C	ENST00000497452.1	-	0	517																											GCTGCTGGCAGAGAGAGAGGA	0.463000													25	124					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575479	19575479	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:19575479C>G	ENST00000328405.2	+	16	3478	c.3212C>G	c.(3211-3213)tCt>tGt	p.S1071C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1071						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTACCAGGATCTTGGAACCAG	0.473000													35	26					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67254641	67254641	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:67254641C>A	ENST00000279146.3	+	2	382	c.264C>A	c.(262-264)ttC>ttA	p.F88L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	88	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TTGCCCAGTTCCTCTGTGACA	0.577000									Familial Isolated Pituitary Adenoma				14	69					4.14922e-12	4.56749e-12	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77415294	77415294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:77415294G>T	ENST00000451710.3	-	17	2351	c.2114C>A	c.(2113-2115)tCg>tAg	p.S705*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.S700*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.S700*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.S705*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.S705*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	705					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGCAGGTCGAATTGCTCCA	0.512000													12	48					3.07112e-06	3.23213e-06	1	1	0
WDR20	91833	broad.mit.edu	37	14	102674982	102674982	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:102674982C>T	ENST00000335263.5	+	3	555	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	WDR20_ENST00000424963.2_Missense_Mutation_p.P35S|WDR20_ENST00000454394.2_Missense_Mutation_p.P190S|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000342702.3_Missense_Mutation_p.P159S|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000499851.2_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.P98S|WDR20_ENST00000556511.2_Missense_Mutation_p.P98S	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	159			P -> H (in dbSNP:rs17852545).							breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CAAATGGGTTCCCGGTTCGGA	0.473000													34	8					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	37002625	37002625	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:37002625C>G	ENST00000217407.2	+	14	1530	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	457					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGCGTGTTCAGCTCTACGA	0.507000													21	25					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67769223	67769223	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:67769223G>A	ENST00000261681.4	+	7	1559	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	MPP5_ENST00000555925.1_Missense_Mutation_p.E266K	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	300	PDZ.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGAAGGAGATGAAGTTCTAGA	0.413000													18	57					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849819	72849819	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:72849819G>A	ENST00000344575.3	+	1	1711	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	494					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGGAGGCCGGAGGGACTGCT	0.652000													18	33					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236448	26236448	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:26236448C>T	ENST00000354667.4	-	5	658	c.490G>A	c.(490-492)Gat>Aat	p.D164N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.D152N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	164	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCACAGGATCATGGTCATCA	0.323000			T	ETV1	prostate								17	106					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104076986	104076986	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:104076986G>A	ENST00000388887.2	+	26	3013	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	937	EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTATAGAATGAGTGTGAGTG	0.403000													30	26					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5843866	5843866	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5843866G>A	ENST00000303225.6	-	3	1619	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	FUT3_ENST00000589620.1_Missense_Mutation_p.R329C|FUT3_ENST00000458379.2_Missense_Mutation_p.R329C|FUT3_ENST00000589918.1_Missense_Mutation_p.R329C	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	329					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTGAAGGAGCGAGGCCGCAGC	0.632000													13	21					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951368	47951368	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:47951368C>G	ENST00000236877.6	-	4	1856	c.1461G>C	c.(1459-1461)gtG>gtC	p.V487V	SLC8A2_ENST00000542837.1_Silent_p.V243V|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	487					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCGCGTCGCCCACGCGCAGGT	0.687000													8	20					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80574476	80574476	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:80574476C>G	ENST00000392325.4	-	9	1046	c.852G>C	c.(850-852)tgG>tgC	p.W284C	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		TGGAGAAACTCCACTTGGAAC	0.463000													12	77					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060484	8060484	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:8060484T>C	ENST00000305253.4	+	1	305	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000528151.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGGATTTTGTTCCCAGGAGG	0.562000													12	40					0	0	1	0	0
GGCT	79017	broad.mit.edu	37	7	30538452	30538452	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338000													19	155					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569344	127569344	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:127569344G>A	ENST00000304916.3	-	2	746	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	97						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGCCCGGCGCGAAGCTCTTCT	0.662000													5	26					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40535382	40535382	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:40535382G>C	ENST00000372797.3	+	9	1390	c.829G>C	c.(829-831)Gac>Cac	p.D277H	CAP1_ENST00000372805.3_Missense_Mutation_p.D277H|CAP1_ENST00000372792.2_Missense_Mutation_p.D277H|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.D276H|CAP1_ENST00000372798.1_Missense_Mutation_p.D276H|CAP1_ENST00000372802.1_Missense_Mutation_p.D276H	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	277					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTATCTGATGACATGAAGAC	0.488000													44	129					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796354	78796354	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:78796354G>A	ENST00000545128.1	+	16	2582	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D682N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	682	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTACCACGCCGACAAGAAGCG	0.527000													36	4					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99126309	99126309	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:99126309C>A	ENST00000357310.1	+	26	4160	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	APAF1_ENST00000547045.1_Missense_Mutation_p.L1195I|APAF1_ENST00000359972.2_Missense_Mutation_p.L1184I|APAF1_ENST00000552268.1_3'UTR|APAF1_ENST00000551964.1_Missense_Mutation_p.L1238I|APAF1_ENST00000333991.1_3'UTR|APAF1_ENST00000339433.3_Missense_Mutation_p.L1153I|APAF1_ENST00000550527.1_Missense_Mutation_p.L1227I|APAF1_ENST00000549007.1_Missense_Mutation_p.L1153I	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1238					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTGGATAATCTTGGTATTTT	0.299000													4	41					1	1	1	1	0
SMEK2	57223	broad.mit.edu	37	2	55816047	55816047	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:55816047C>G	ENST00000272313.5	-	5	1294	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	SMEK2_ENST00000345102.5_Missense_Mutation_p.E323Q|SMEK2_ENST00000407823.3_Missense_Mutation_p.E323Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	323						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTGTAGCCTCATCTGTTAAT	0.308000													15	103					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141549464	141549464	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:141549464C>T	ENST00000220592.5	-	16	2236	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	AGO2_ENST00000519980.1_Silent_p.Q708Q	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGTGCCTCTTCTGCACCACGA	0.592000													5	37					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89613074	89613074	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:89613074G>A	ENST00000268704.2	+	11	1473	c.1458G>A	c.(1456-1458)cgG>cgA	p.R486R		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGGAGAGGCGGGAGATTTTTG	0.592000													11	23					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15807668	15807668	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:15807668C>G	ENST00000375910.3	+	3	230	c.205C>G	c.(205-207)Ctg>Gtg	p.L69V	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CAGCTGGGTCCTGACGGCTGC	0.612000													7	26					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135087	11135087	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:11135087G>C	ENST00000358026.2	+	21	3338	c.3054G>C	c.(3052-3054)ctG>ctC	p.L1018L	SMARCA4_ENST00000589677.1_Silent_p.L1018L|SMARCA4_ENST00000450717.3_Silent_p.L1018L|SMARCA4_ENST00000444061.3_Silent_p.L1018L|SMARCA4_ENST00000541122.2_Silent_p.L1018L|SMARCA4_ENST00000344626.4_Silent_p.L1018L|SMARCA4_ENST00000429416.3_Silent_p.L1018L|SMARCA4_ENST00000590574.1_Silent_p.L1018L|SMARCA4_ENST00000413806.3_Silent_p.L1018L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1018					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGTGCTGCTGACTGATGGCT	0.622000			"""F, N, Mis"""		NSCLC								9	28					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105644998	105644998	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:105644998G>C	ENST00000542731.1	+	8	1025	c.917G>C	c.(916-918)aGa>aCa	p.R306T	CDHR3_ENST00000343407.5_Missense_Mutation_p.R23T|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R306T|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.R218T			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	306	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGTGAATTGAGACAAAATCCC	0.458000													3	15					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707349	96707349	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:96707349G>C	ENST00000542454.2	+	3	3691	c.603G>C	c.(601-603)ctG>ctC	p.L201L	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.L201L|BDKRB2_ENST00000554311.1_Silent_p.L228L|BDKRB2_ENST00000306005.3_Silent_p.L228L			P30411	BKRB2_HUMAN	bradykinin receptor B2	228					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACATGCTCCTGAATGTCGTGG	0.547000													4	11					0	0	1	0	0
TRPT1	83707	broad.mit.edu	37	11	63991404	63991404	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63991404C>T	ENST00000394546.2	-	8	925	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TRPT1_ENST00000546133.1_Missense_Mutation_p.E94K|TRPT1_ENST00000546089.1_Missense_Mutation_p.E150K|TRPT1_ENST00000394547.3_Missense_Mutation_p.E187K|TRPT1_ENST00000541278.1_Missense_Mutation_p.E199K|TRPT1_ENST00000317459.6_Missense_Mutation_p.E236K	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	236							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						CTCTGACACTCTGTCTCTTCA	0.403000													5	28					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56490340	56490340	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:56490340C>A	ENST00000267101.3	+	18	2549	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	ERBB3_ENST00000450146.2_Silent_p.I60I|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000415288.2_Silent_p.I644I	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	703					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGCCAGAATCTTCAAAGAGA	0.502000													26	89					3.65163e-15	4.06232e-15	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103343652	103343652	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:103343652C>G	ENST00000358392.2	-	67	5697	c.5380G>C	c.(5380-5382)Gat>Cat	p.D1794H	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1743H|COL11A1_ENST00000370096.3_Missense_Mutation_p.D1782H|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1666H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1782	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCATGACATCAACAATAGGT	0.318000													22	22					0	0	1	0	0
OR4F4	26682	broad.mit.edu	37	15	102462384	102462384	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:102462384C>T	ENST00000326183.3	-	1	914	c.879G>A	c.(877-879)cgG>cgA	p.R293R		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATTTTCTCAGCCGTCTTATTG	0.348000													92	93					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25901111	25901111	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:25901111G>A	ENST00000463407.1	+	11	1232	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	NUPL1_ENST00000381736.3_Silent_p.Q363Q|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Silent_p.Q351Q			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	363	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACAGGCAGCAGATTGAAGAAC	0.328000													18	59					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55844415	55844415	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:55844415C>G	ENST00000272313.5	-	1	334	c.7G>C	c.(7-9)Gat>Cat	p.D3H	SMEK2_ENST00000345102.5_Missense_Mutation_p.D3H|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000407823.3_Missense_Mutation_p.D3H	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	3	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCCGCGTATCCGACATGGTG	0.627000													9	8					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663713	29663713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29663713G>T	ENST00000358273.4	+	42	6591	c.6208G>T	c.(6208-6210)Gaa>Taa	p.E2070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E2049*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2070					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTACTTTAGAACAACATCT	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	16					3.08376e-08	3.32229e-08	1	1	0
CIITA	4261	broad.mit.edu	37	16	11001294	11001294	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:11001294G>T	ENST00000324288.8	+	11	2078	c.1945G>T	c.(1945-1947)Gcc>Tcc	p.A649S	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	649	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGGCCGTGCAGCCCTCGACAG	0.682000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								9	28					0.000442599	0.000454931	1	1	0
RTEL1	51750	broad.mit.edu	37	20	62305348	62305348	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:62305348C>T	ENST00000318100.4	+	10	1648	c.821C>T	c.(820-822)tCa>tTa	p.S274L	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S274L|RTEL1_ENST00000360203.5_Missense_Mutation_p.S274L|RTEL1_ENST00000370018.3_Missense_Mutation_p.S274L|RTEL1_ENST00000508582.2_Missense_Mutation_p.S298L	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	274	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GACCTGGCTTCAGGACTGGAC	0.602000													35	146					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81659126	81659126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:81659126G>A	ENST00000553612.1	-	7	1073	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.Q185*	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	224					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AAGATTTGCTGAGGCTGGATG	0.463000													24	102					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122881418	122881418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:122881418C>T	ENST00000395412.1	+	2	780	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CSNK1G3_ENST00000395411.1_Nonsense_Mutation_p.R21*|CSNK1G3_ENST00000361991.2_Nonsense_Mutation_p.R21*|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Nonsense_Mutation_p.R21*|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Nonsense_Mutation_p.R21*|CSNK1G3_ENST00000360683.2_Nonsense_Mutation_p.R21*|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000345990.4_Nonsense_Mutation_p.R21*			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	21					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACCTAGTGGTCGATCGGGACA	0.393000													18	19					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100203	121100203	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:121100203C>G	ENST00000273666.6	+	23	2754	c.2483C>G	c.(2482-2484)tCt>tGt	p.S828C	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S802C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S804C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S804C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S828C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	828					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACAAAGATTCTAAAGAAGCA	0.363000													19	68					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839866	128839866	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:128839866C>T	ENST00000310343.9	-	22	5199	c.5200G>A	c.(5200-5202)Gat>Aat	p.D1734N	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.D1385N|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.D1385N	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1734	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGCTTCACATCAGCAGCCGGA	0.542000													48	13					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52477630	52477630	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:52477630A>C	ENST00000216286.5	-	18	3685	c.3686T>G	c.(3685-3687)gTg>gGg	p.V1229G	NID2_ENST00000541773.1_Missense_Mutation_p.V1128G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1229						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACGGGGATTCACCAGATCTGT	0.527000													3	51					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62355856	62355856	+	Missense_Mutation	SNP	T	T	C	rs76277372		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:62355856T>C	ENST00000283268.3	-	5	1576	c.1282A>G	c.(1282-1284)Aga>Gga	p.R428G	FEZF2_ENST00000475839.1_Missense_Mutation_p.R428G|FEZF2_ENST00000486811.1_Missense_Mutation_p.R428G	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	428					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TCAAAGTTTCTGCAAAACCCT	0.537000													21	36					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10231366	10231366	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:10231366G>A	ENST00000377157.3	+	24	3830	c.2769G>A	c.(2767-2769)gcG>gcA	p.A923A	UBE4B_ENST00000343090.6_Silent_p.A1168A|UBE4B_ENST00000253251.8_Silent_p.A1039A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1168					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCGGTTCGCGAAAGCCATTG	0.478000													15	40					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:43622444G>C	ENST00000305641.5	-	1	359	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		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;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652000													21	12					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184566952	184566952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:184566952C>G	ENST00000287546.4	+	8	806	c.635C>G	c.(634-636)tCa>tGa	p.S212*	VPS8_ENST00000446204.2_Nonsense_Mutation_p.S210*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.S210*|VPS8_ENST00000437079.3_Nonsense_Mutation_p.S212*	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	212							zinc ion binding	p.S212L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATGATTGCTCAAGACTTCTT	0.388000													5	38					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647922	53647922	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:53647922G>C	ENST00000534842.1	+	2	1771	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	MFSD5_ENST00000329548.4_Missense_Mutation_p.E435Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	435					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCATGATGCTGAGCTGCGGGT	0.532000													10	44					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600579	98600579	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:98600579C>T	ENST00000326840.6	-	2	600	c.238G>A	c.(238-240)Gag>Aag	p.E80K	DCBLD2_ENST00000326857.9_Missense_Mutation_p.E80K|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	80	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTTCCACTCTCAGGGCCTAGT	0.388000													17	82					0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493565	62493565	+	Silent	SNP	C	C	T	rs144760130		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:62493565C>T	ENST00000369916.3	+	1	1000	c.672C>T	c.(670-672)gaC>gaT	p.D224D		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	224							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACGCCATGGACGTGGTGGTCG	0.697000													4	7					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58382891	58382891	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:58382891C>T	ENST00000463280.1	+	8	940	c.849C>T	c.(847-849)ttC>ttT	p.F283F	PXK_ENST00000302779.5_Silent_p.F299F|PXK_ENST00000479241.1_Silent_p.F299F|PXK_ENST00000356151.2_Silent_p.F316F|PXK_ENST00000536660.1_Silent_p.F179F|PXK_ENST00000383715.4_Silent_p.F299F|PXK_ENST00000383716.3_Silent_p.F283F|PXK_ENST00000484288.1_Silent_p.F316F			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	316	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TGCCTTCCTTCTACCGATCTT	0.443000													49	25					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738304	145738304	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:145738304C>G	ENST00000428558.2	-	16	2722	c.2681G>C	c.(2680-2682)aGa>aCa	p.R894T	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	894					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)			GCAGACCCTTCTGGGTCCTGG	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				3	2					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29627030	29627030	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:29627030G>C	ENST00000334018.6	+	6	675	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	EMID1_ENST00000404820.3_Missense_Mutation_p.E163Q|EMID1_ENST00000404755.3_Missense_Mutation_p.E163Q|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	161						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GACTGTCATAGAGCAGCCAGT	0.607000													32	35					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75913509	75913509	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:75913509G>T	ENST00000296641.4	-	2	1226	c.1023C>A	c.(1021-1023)ctC>ctA	p.L341L	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Silent_p.L319L|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	341					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		ACAAAGCTATGAGATATATAA	0.328000													9	24					1.12685e-05	1.18228e-05	1	1	0
MAP3K15	389840	broad.mit.edu	37	X	19449707	19449707	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:19449707G>C	ENST00000338883.4	-	7	1014	c.1015C>G	c.(1015-1017)Cgt>Ggt	p.R339G	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R171G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	339							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCTTCTCACGGTCACCTGTG	0.512000													13	2					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965805	58965805	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:58965805C>A	ENST00000594214.1	+	3	396	c.332C>A	c.(331-333)cCt>cAt	p.P111H	ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000336614.4_Intron|ZNF324B_ENST00000545523.1_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCTCCTCTCCTGCCTCCTAC	0.572000													3	5					6.4e-05	6.63472e-05	1	1	0
ERCC1	2067	broad.mit.edu	37	19	45924530	45924530	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:45924530C>T	ENST00000300853.3	-	3	818	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ERCC1_ENST00000589165.1_Missense_Mutation_p.C76Y|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.C76Y|ERCC1_ENST00000013807.5_Missense_Mutation_p.C76Y|ERCC1_ENST00000340192.7_Missense_Mutation_p.C76Y	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	76					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCCTGTGGGGCACGTGGCCCC	0.647000								Nucleotide excision repair (NER)					9	27					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70204807	70204807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:70204807G>T	ENST00000399180.2	-	8	1348	c.1349C>A	c.(1348-1350)tCa>tAa	p.S450*	DNA2_ENST00000358410.3_Nonsense_Mutation_p.S364*|DNA2_ENST00000399179.2_Nonsense_Mutation_p.S364*			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	364					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GTGAAACAATGAGAATGCCAT	0.308000													23	16					1.28384e-07	1.37662e-07	1	1	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	40					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49750139	49750139	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49750139G>T	ENST00000432042.1	+	24	2546	c.2286G>T	c.(2284-2286)gtG>gtT	p.V762V	RNF123_ENST00000327697.6_Intron			Q5XPI4	RN123_HUMAN	ring finger protein 123	0						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)		GGTCTCTAGTGTGAGCCCTAG	0.592000													4	5					0.00909568	0.00926538	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164394638	164394638	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:164394638G>C	ENST00000280605.3	-	1	409	c.249C>G	c.(247-249)ctC>ctG	p.L83L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	83						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGCAGCATAGAGGATAGGAG	0.537000													9	2					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58988700	58988700	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:58988700G>A	ENST00000596341.1	+	2	2335	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	ZNF446_ENST00000594369.1_Missense_Mutation_p.G39S|ZNF446_ENST00000335841.4_Missense_Mutation_p.G39S			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	39	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGAGGTGGCAGGTCCCCGAGA	0.662000													14	56					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005406	1005406	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:1005406C>T	ENST00000537687.1	+	24	7176	c.6533C>T	c.(6532-6534)tCt>tTt	p.S2178F	WNK1_ENST00000315939.6_Missense_Mutation_p.S1918F|WNK1_ENST00000535572.1_Missense_Mutation_p.S1670F|WNK1_ENST00000530271.2_Missense_Mutation_p.S2416F|WNK1_ENST00000340908.4_Missense_Mutation_p.S1511F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1918					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTGGTATCTCTTCAGATGTG	0.498000													8	32					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42407864	42407864	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:42407864C>G	ENST00000599846.1	+	21	2138	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L	ARHGEF1_ENST00000378152.4_Silent_p.L597L|ARHGEF1_ENST00000347545.4_Silent_p.L582L|ARHGEF1_ENST00000337665.4_Silent_p.L630L|ARHGEF1_ENST00000354532.3_Silent_p.L615L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	615	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCAGAGGCTCAAGGACTATC	0.592000													4	18					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071784	134071784	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:134071784C>T	ENST00000264360.5	+	1	1315	c.489C>T	c.(487-489)ccC>ccT	p.P163P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGATCACCCCCAACAGCTACT	0.622000													32	8					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17600945	17600945	+	Missense_Mutation	SNP	G	G	C	rs141309895		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:17600945G>C	ENST00000259963.3	+	1	360	c.305G>C	c.(304-306)cGa>cCa	p.R102P		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	102						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCGGCGCCACGAGAGAGACCA	0.736000													3	1					0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38864307	38864307	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:38864307C>G	ENST00000216014.4	+	1	241	c.69C>G	c.(67-69)atC>atG	p.I23M	KDELR3_ENST00000409006.3_Missense_Mutation_p.I23M	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	23					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGGAAGATCTGGAGGTCCA	0.677000													19	19					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600444	10600444	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:10600444G>A	ENST00000171111.5	-	4	1958	c.1411C>T	c.(1411-1413)Ctc>Ttc	p.L471F	KEAP1_ENST00000393623.2_Missense_Mutation_p.L471F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCATAAAGGAGACGATTGAGG	0.562000													3	29					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36880169	36880169	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:36880169C>T	ENST00000301807.6	-	18	5434	c.3537G>A	c.(3535-3537)gaG>gaA	p.E1179E	TRANK1_ENST00000428977.2_Silent_p.E1179E|TRANK1_ENST00000429976.2_Silent_p.E1729E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1729					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTTCTCCTTCTCAAATGCAC	0.483000													4	103					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171377037	171377037	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:171377037C>T	ENST00000356327.5	-	20	2351	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	PLD1_ENST00000340989.4_Missense_Mutation_p.D799N|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.D799N	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	799	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.D799N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCAATGGCATCGCCTATCTTG	0.388000													26	145					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152719918	152719918	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:152719918C>T	ENST00000370211.4	-	9	1052	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	HAUS7_ENST00000370212.3_Missense_Mutation_p.E396K|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	347					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TTCACGGTCTCCACGGCCTTC	0.657000													4	1					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216586	111216586	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:111216586C>T	ENST00000369769.2	-	1	1069	c.846G>A	c.(844-846)tcG>tcA	p.S282S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	282						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.S282S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCGGGACCCCGACGTGCTGT	0.622000													11	67					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36920006	36920006	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:36920006C>G	ENST00000216190.8	-	5	698	c.328G>C	c.(328-330)Gat>Cat	p.D110H	EIF3D_ENST00000541106.1_Missense_Mutation_p.D61H|EIF3D_ENST00000405442.1_Missense_Mutation_p.D110H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	110						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TTCCGACGATCTTTGTCTCTG	0.473000													37	52					0	0	1	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416248	135416248	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:135416248C>T	ENST00000602301.1	-	0	38					NR_030583.2																						GATAGAAAGTCCGGCATGAGG	0.512000													4	26					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003068	42003068	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:42003068G>C	ENST00000219905.7	+	8	2786	c.2605G>C	c.(2605-2607)Gat>Cat	p.D869H	MGA_ENST00000570161.1_Missense_Mutation_p.D869H|MGA_ENST00000566586.1_Missense_Mutation_p.D869H|MGA_ENST00000389936.4_Missense_Mutation_p.D869H|MGA_ENST00000545763.1_Missense_Mutation_p.D869H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	869						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACGAACACTTGATAGTGTACT	0.423000													21	41					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257242	105257242	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:105257242G>C	ENST00000507740.1	+	18	3111	c.2875G>C	c.(2875-2877)Gag>Cag	p.E959Q	RIMS2_ENST00000339750.2_Missense_Mutation_p.E81Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.E1163Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1145Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.E984Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1207					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAAGCCGAGAGTCTACAGA	0.498000										HNSCC(12;0.0054)			32	76					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90674587	90674587	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:90674587C>T	ENST00000265138.3	-	2	552	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	96					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TCGGAATTATCATCATCTAAA	0.328000													18	13					0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19812566	19812566	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:19812566C>G	ENST00000225737.6	-	14	2068	c.1911G>C	c.(1909-1911)aaG>aaC	p.K637N	AKAP10_ENST00000395536.3_Missense_Mutation_p.K579N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	637	PKA-RII subunit binding.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	p.E632_K637delEELAWK(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TTTTAGCAATCTTCCAAGCTA	0.378000													36	4					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153995751	153995751	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:153995751C>G	ENST00000368559.3	-	31	4216	c.4145G>C	c.(4144-4146)cGa>cCa	p.R1382P	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1382P|NUP210L_ENST00000368553.1_Missense_Mutation_p.R315P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1382						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGCTCACTCGCAGGTATGT	0.473000													15	93					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	48994491	48994491	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:48994491C>G	ENST00000600059.1	-	14	4467	c.4240G>C	c.(4240-4242)Gag>Cag	p.E1414Q	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1443Q					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCCGCCCACTCGAAACTGCCT	0.721000													10	4					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255032	51255032	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:51255032G>A	ENST00000404971.1	-	2	1719	c.380C>T	c.(379-381)aCg>aTg	p.T127M	NRXN1_ENST00000406859.3_Missense_Mutation_p.T127M|NRXN1_ENST00000405581.1_Missense_Mutation_p.T127M|NRXN1_ENST00000405472.3_Missense_Mutation_p.T127M|NRXN1_ENST00000406316.2_Missense_Mutation_p.T127M|NRXN1_ENST00000402717.3_Missense_Mutation_p.T127M|NRXN1_ENST00000401669.2_Missense_Mutation_p.T127M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	127	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATGAAGAGCGTGGTGTTGCG	0.667000													4	32					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000924	11000924	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:11000924C>G	ENST00000324288.8	+	11	1708	c.1575C>G	c.(1573-1575)ctC>ctG	p.L525L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	525	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGCTCCCTCCGGGGGCTGC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								5	59					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220172	13220172	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:13220172G>A	ENST00000197268.8	+	7	1204	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	362						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCAGATAGAAGAGCCAGAATG	0.478000													14	26					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16960695	16960695	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:16960695C>T	ENST00000377833.4	-	45	6991	c.6926G>A	c.(6925-6927)gGa>gAa	p.G2309E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2309	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAACCTCTCCTGAGGACCA	0.413000													7	32					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216084	103216084	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:103216084C>G	ENST00000424685.2	-	29	4373	c.4214G>C	c.(4213-4215)gGa>gCa	p.G1405A	RELN_ENST00000343529.5_Missense_Mutation_p.G1405A|RELN_ENST00000428762.1_Missense_Mutation_p.G1405A			P78509	RELN_HUMAN	reelin	1405					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATGTACACTCCATCTAAACC	0.478000													25	37					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44956507	44956507	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:44956507G>C	ENST00000533940.1	-	10	1102	c.498C>G	c.(496-498)gtC>gtG	p.V166V	TP53I11_ENST00000525680.1_Silent_p.V166V|TP53I11_ENST00000308212.5_Silent_p.V166V|TP53I11_ENST00000395648.3_Silent_p.V166V	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	166					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GGAGGCGGCTGACCAGGAGCA	0.607000													14	46					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122146548	122146548	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:122146548C>T	ENST00000344337.6	-	13	1442	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	422	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGATACAACCCAGTTCTACTA	0.383000													6	28					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692427	49692427	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49692427G>C	ENST00000296452.4	+	5	5552	c.5438G>C	c.(5437-5439)aGa>aCa	p.R1813T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1813					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)		CCTCTGGCCAGAAGAGACGTT	0.627000													26	13					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370723	26370723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:26370723G>T	ENST00000356386.2	+	5	795	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Nonsense_Mutation_p.E180*|BTN3A2_ENST00000377708.2_Nonsense_Mutation_p.E203*|BTN3A2_ENST00000396948.1_Nonsense_Mutation_p.E203*|BTN3A2_ENST00000508906.2_Nonsense_Mutation_p.E161*|BTN3A2_ENST00000527422.1_Nonsense_Mutation_p.E203*	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	203						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGGCCTATATGAAGTAGCAGC	0.557000													14	217					0.000132079	0.000136375	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55329821	55329821	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:55329821G>A	ENST00000391728.4	+	3	155	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000358178.4_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.R41Q(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGGTGCCTCGAGGAGGACAC	0.542000													14	28					0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39462453	39462453	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:39462453C>T	ENST00000261434.3	+	2	207	c.89C>T	c.(88-90)tCc>tTc	p.S30F	LIAS_ENST00000381846.1_Missense_Mutation_p.S30F|LIAS_ENST00000340169.2_Missense_Mutation_p.S30F|LIAS_ENST00000513731.1_Missense_Mutation_p.S30F|LIAS_ENST00000515061.1_3'UTR	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	30					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCGTTAAGCTCCTTGCCAGAT	0.378000													81	93					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151738478	151738478	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:151738478C>G	ENST00000367303.4	-	10	1258	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	RMND1_ENST00000336451.3_Missense_Mutation_p.R168T	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	379										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CAGGTTTTCTCTGTCCCAGTA	0.343000													13	66					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85548061	85548061	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:85548061G>A	ENST00000294664.6	+	5	544	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	WDR63_ENST00000370596.1_Missense_Mutation_p.E122K|WDR63_ENST00000326813.8_Missense_Mutation_p.E122K	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	122										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTGCAACTGAAGAGGGCAA	0.343000													7	30					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032477	99032477	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:99032477C>T	ENST00000292478.4	-	2	639	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R179Q|PTCD1_ENST00000555673.1_Missense_Mutation_p.R179Q|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCCGGCCTCGCCATAATTT	0.552000													68	124					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85590234	85590234	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:85590234G>A	ENST00000315658.7	+	4	403	c.144G>A	c.(142-144)aaG>aaA	p.K48K	ELMOD3_ENST00000409890.2_Silent_p.K48K|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000428955.2_Silent_p.K48K|ELMOD3_ENST00000393852.4_Silent_p.K48K|ELMOD3_ENST00000409344.3_Silent_p.K48K|ELMOD3_ENST00000409013.3_Silent_p.K48K	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	48					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CAGAGTTGAAGAACCATGGCA	0.512000													19	12					0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17847458	17847458	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:17847458C>G	ENST00000326877.4	-	7	967	c.843G>C	c.(841-843)ttG>ttC	p.L281F	LCORL_ENST00000539056.1_3'UTR	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAATGGGGCTCAAAGGGCAAC	0.383000													22	58					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110428345	110428345	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:110428345C>G	ENST00000392589.1	-	7	1311	c.475G>C	c.(475-477)Gat>Cat	p.D159H	WASF1_ENST00000392586.1_Missense_Mutation_p.D159H|WASF1_ENST00000392587.2_Missense_Mutation_p.D159H|WASF1_ENST00000359451.2_Missense_Mutation_p.D159H|WASF1_ENST00000392588.1_Missense_Mutation_p.D159H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	159					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TTCCATAGATCAAAGAAATAC	0.303000													46	12					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722865	30722865	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:30722865C>T	ENST00000215790.7	-	1	170	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TBC1D10A_ENST00000403477.3_Silent_p.A2A|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	2						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGTTGCTCTTCGCCATCCCAG	0.781000													3	0					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24836595	24836595	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:24836595C>G	ENST00000504487.1	-	8	801	c.795G>C	c.(793-795)ctG>ctC	p.L265L	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.L265L|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	265										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GGACTCCTGTCAGAGCACTGC	0.498000													34	62					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2845881	2845881	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:2845881G>A	ENST00000380445.3	+	21	2164	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	VPS16_ENST00000380443.3_Missense_Mutation_p.D384N|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.D554N	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	698					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						GTCTCTACATGACACAGTTAC	0.607000													9	46					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149290706	149290706	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:149290706G>A	ENST00000465804.1	-	4	769	c.513C>T	c.(511-513)gcC>gcT	p.A171A	WWTR1_ENST00000360632.3_Silent_p.A171A|WWTR1_ENST00000467467.1_Silent_p.A171A	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	171					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGAACTGACGGCAGGGTGGA	0.413000			T	CAMTA1	epitheliod hemangioendothelioma								17	46					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990413	205990413	+	Silent	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:205990413A>C	ENST00000406610.2	+	10	1593	c.1386A>C	c.(1384-1386)gcA>gcC	p.A462A	PARD3B_ENST00000351153.1_Silent_p.A462A|PARD3B_ENST00000349953.3_Silent_p.A462A|PARD3B_ENST00000462231.1_Silent_p.A462A|PARD3B_ENST00000358768.2_Silent_p.A462A	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	462	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAGACAGCATCGCTGGTCA	0.488000													35	28					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688475	48688475	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:48688475C>G	ENST00000236495.5	+	1	117	c.67C>G	c.(67-69)Cca>Gca	p.P23A	SLC5A9_ENST00000533824.1_Missense_Mutation_p.P23A|SLC5A9_ENST00000420136.2_Missense_Mutation_p.P16A|SLC5A9_ENST00000438567.2_Missense_Mutation_p.P23A	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	23						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TGAGACAGCTCCACACATAGC	0.557000													3	25					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297069	18297069	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:18297069G>A	ENST00000377671.3	+	7	2130	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	ZNF133_ENST00000396026.3_Missense_Mutation_p.R528Q|ZNF133_ENST00000401790.1_Missense_Mutation_p.R525Q|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000535822.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000402618.2_Missense_Mutation_p.R462Q|ZNF133_ENST00000316358.4_Missense_Mutation_p.R525Q	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	525						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TATGTGTGCCGAGAGTGCGGG	0.622000													18	39					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619632	619632	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:619632G>C	ENST00000255622.6	+	1	260	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	PDE6B_ENST00000496514.1_Missense_Mutation_p.E73Q	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	73	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CATCAACATGGAGCGCGTGGT	0.677000													3	3					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678981	38678981	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:38678981C>G	ENST00000267377.2	+	3	1004	c.387C>G	c.(385-387)ctC>ctG	p.L129L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	129					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGCGCTGCTCTGCCGCCTCG	0.602000													18	87					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460772	106460772	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:106460772G>A	ENST00000261402.2	-	7	3173	c.1794C>T	c.(1792-1794)atC>atT	p.I598I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	598							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGCAGCTGCGGATGCGCTGGC	0.617000													7	24					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067058	52067058	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:52067058C>T	ENST00000361781.2	-	11	2045	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	SGMS1_ENST00000429490.1_Missense_Mutation_p.M193I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	368					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGGAGGTTCATCTGGGAAG	0.423000													13	33					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014691	53014691	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:53014691A>T	ENST00000421239.2	+	6	1301	c.1057A>T	c.(1057-1059)Agt>Tgt	p.S353C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAGTCCTTCAGTTACAAGTC	0.403000													16	101					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6829822	6829822	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:6829822C>G	ENST00000304076.2	+	14	1385	c.1291C>G	c.(1291-1293)Cta>Gta	p.L431V	VAV1_ENST00000596764.1_Missense_Mutation_p.L399V|VAV1_ENST00000539284.1_Missense_Mutation_p.L334V|VAV1_ENST00000599806.1_Missense_Mutation_p.L376V|VAV1_ENST00000602142.1_Missense_Mutation_p.L431V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	431	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGACAAAGCTCTACTCATCTG	0.532000													24	36					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996461	20996461	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:20996461T>A	ENST00000261383.3	-	48	7602	c.7603A>T	c.(7603-7605)Agg>Tgg	p.R2535W	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2535	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTTGGGTCCTGGCTGCAGTC	0.478000													7	35					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147883	82147883	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:82147883C>G	ENST00000550584.2	-	2	413	c.118G>C	c.(118-120)Gat>Cat	p.D40H	PPFIA2_ENST00000549325.1_Missense_Mutation_p.D40H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D40H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D40H|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D40H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D40H	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	299										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCCTTTCATCTAGCATATTC	0.522000													3	14					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62589584	62589584	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:62589584G>A	ENST00000262435.9	-	4	495	c.308C>T	c.(307-309)gCc>gTc	p.A103V	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	103					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GCGGTTGATGGCATTGGAAAG	0.388000													44	64					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276946	95276946	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:95276946G>A	ENST00000371485.3	+	6	1238	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	312					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GGAAGAGAATGATATTGCTAG	0.388000													17	56					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98533269	98533269	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:98533269C>G	ENST00000359863.4	+	28	4291	c.4082C>G	c.(4081-4083)tCa>tGa	p.S1361*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.S1360*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.S1361*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1361					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTTCCGTCACTCGTACCT	0.383000													12	86					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99416117	99416117	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:99416117C>T	ENST00000370631.3	+	3	769	c.712C>T	c.(712-714)Cta>Tta	p.L238L	PI4K2A_ENST00000370649.3_Silent_p.L208L|PI4K2A_ENST00000555577.1_Silent_p.L208L	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	238	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GCGGCTTGCACTAGAGAAAGT	0.483000													20	36					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13096282	13096282	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:13096282C>T	ENST00000506447.1	+	36	6613	c.6533C>T	c.(6532-6534)cCg>cTg	p.P2178L	CEP192_ENST00000325971.8_Missense_Mutation_p.P1582L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.P1703L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1773										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACAGTCACGCCGCAGCATGGA	0.483000													34	29					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085944	53085944	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:53085944G>C	ENST00000540331.1	+	5	1055	c.830G>C	c.(829-831)aGa>aCa	p.R277T	ZNF701_ENST00000391785.3_Missense_Mutation_p.R211T|ZNF701_ENST00000301093.2_Missense_Mutation_p.R277T|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTACACACAAGAGAAAAATCT	0.348000													18	52					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150068781	150068781	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:150068781G>A	ENST00000397281.2	+	4	940	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.E151K|REPIN1_ENST00000540729.1_Missense_Mutation_p.E151K|REPIN1_ENST00000425389.2_Missense_Mutation_p.E151K|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.E208K	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	151					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.E151K(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCCCAAATGCGAGAGACGCTT	0.662000													4	8					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53386038	53386038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:53386038C>T	ENST00000395631.2	-	3	410	c.194G>A	c.(193-195)tGg>tAg	p.W65*	FERMT2_ENST00000343279.4_Nonsense_Mutation_p.W65*|FERMT2_ENST00000399304.3_Nonsense_Mutation_p.W65*|FERMT2_ENST00000341590.3_Nonsense_Mutation_p.W65*|FERMT2_ENST00000553373.1_Nonsense_Mutation_p.W65*			Q96AC1	FERM2_HUMAN	fermitin family member 2	65					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTTCTTTTCCCACCAGAGAGC	0.363000													16	77					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648198	11648198	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:11648198G>A	ENST00000262442.4	+	31	6264	c.6196G>A	c.(6196-6198)Gag>Aag	p.E2066K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2066K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGACCGGCCTGAGGACCAGGT	0.587000													12	3					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059226	119059226	+	Missense_Mutation	SNP	C	C	T	rs139829965		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:119059226C>T	ENST00000371410.3	-	9	1371	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	402	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AACCATTTCTCGAAAACTGGC	0.393000													17	47					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250615	140250615	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140250615C>T	ENST00000398640.2	+	1	1927	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCGCCGCGCCACCGACT	0.682000													20	41					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121768387	121768387	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:121768387G>A	ENST00000261819.3	-	9	1242	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	ANAPC5_ENST00000344395.4_Splice_Site_p.P275L|ANAPC5_ENST00000441917.2_Splice_Site_p.P275L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Intron|ANAPC5_ENST00000535482.1_Splice_Site_p.P40L|ANAPC5_ENST00000541887.1_Splice_Site_p.P374L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	374					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGCCTTACCGGTAACCCAAA	0.453000													5	36					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	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)			30	7					0	0	1	0	0
TOMM20	9804	broad.mit.edu	37	1	235275406	235275406	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:235275406C>G	ENST00000366607.4	-	5	631	c.411G>C	c.(409-411)caG>caC	p.Q137H	TOMM20_ENST00000467767.1_5'UTR	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	137					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CAGCCAAGCTCTGAGCACTTA	0.284000													4	21					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344258	52344258	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:52344258G>A	ENST00000354831.7	-	1	219	c.30C>T	c.(28-30)gtC>gtT	p.V10V	NRD1_ENST00000352171.7_Silent_p.V10V|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	10					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GGGTGGCACAGACTGCAGCAA	0.647000													8	2					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763812	5763812	+	Missense_Mutation	SNP	G	G	A	rs148688426		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:5763812G>A	ENST00000414202.2	+	19	2976	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	KIAA1432_ENST00000381532.2_Missense_Mutation_p.E850K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E813K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E850K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E929K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	929						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTGTTTGAGGAGTGTTTGAT	0.433000													38	93					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10631321	10631321	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:10631321C>A	ENST00000547195.1	-	10	1752	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.D194Y|MRVI1_ENST00000531107.1_Missense_Mutation_p.D501Y|MRVI1_ENST00000423302.2_Missense_Mutation_p.D509Y|MRVI1_ENST00000552103.1_Missense_Mutation_p.D418Y|MRVI1_ENST00000545852.1_Missense_Mutation_p.D194Y|MRVI1_ENST00000424001.1_Missense_Mutation_p.D194Y|MRVI1_ENST00000527509.2_Missense_Mutation_p.D418Y|MRVI1_ENST00000436272.1_Missense_Mutation_p.D482Y|MRVI1_ENST00000558540.1_Missense_Mutation_p.D194Y|MRVI1_ENST00000541483.1_Missense_Mutation_p.D303Y|MRVI1_ENST00000421747.1_Missense_Mutation_p.D500Y	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	482					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGCAGCACATCAGAAATATTA	0.488000													6	15					0.0215528	0.0218895	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77816638	77816638	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:77816638C>T	ENST00000334306.2	-	1	2364	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	789																	CTATACTCTTCTCTTTCCCTT	0.488000													33	34					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934211	113934211	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:113934211C>T	ENST00000335953.4	+	2	569	c.189C>T	c.(187-189)ttC>ttT	p.F63F	ZBTB16_ENST00000392996.2_Silent_p.F63F	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	63	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGATCCTCTTCCACCGCAATA	0.552000													24	3					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198495896	198495896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:198495896G>T	ENST00000295049.4	-	5	1303	c.767C>A	c.(766-768)tCa>tAa	p.S256*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CCAGGAGGTTGAATCATCATC	0.378000													6	23					0.0215528	0.0218895	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30358396	30358396	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:30358396G>T	ENST00000327564.7	+	5	2037		c.e5-1		LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Splice_Site|LRRC37B_ENST00000543378.2_Splice_Site			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTTTTTGTAGAAATCTGGGC	0.343000													40	44					6.1244e-12	6.73635e-12	1	1	0
DCC	1630	broad.mit.edu	37	18	50731614	50731614	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:50731614G>A	ENST00000442544.2	+	10	2218	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	DCC_ENST00000581580.1_Silent_p.L189L|DCC_ENST00000412726.1_Silent_p.L382L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	534	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGAAAACCTGCAAGCTGTAT	0.408000													23	45					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251043	19251043	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:19251043C>G	ENST00000527884.1	-	10	2083	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.K617N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	617					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTTAAATTTCTTTTTGGAAC	0.483000													25	71					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707272	96707272	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:96707272G>C	ENST00000542454.2	+	3	3614	c.526G>C	c.(526-528)Gat>Cat	p.D176H	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.D176H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.D203H|BDKRB2_ENST00000306005.3_Missense_Mutation_p.D203H			P30411	BKRB2_HUMAN	bradykinin receptor B2	203					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAGTACAGCGATGAGGGCCA	0.592000													8	15					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441595	85441595	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:85441595G>C	ENST00000521268.1	+	2	1144	c.39G>C	c.(37-39)aaG>aaC	p.K13N	RALYL_ENST00000518566.1_Missense_Mutation_p.K13N|RALYL_ENST00000521695.1_Missense_Mutation_p.K13N|RALYL_ENST00000522455.1_Missense_Mutation_p.K13N|RALYL_ENST00000517638.1_Missense_Mutation_p.K26N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	13							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCACCAATAAGAATGACCCCA	0.373000													10	10					0	0	1	0	0
NMB	4828	broad.mit.edu	37	15	85200431	85200431	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:85200431G>A	ENST00000394588.3	-	2	716	c.306C>T	c.(304-306)ctC>ctT	p.L102L	NMB_ENST00000360476.3_Silent_p.L102L	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	102					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		CGGGGCGGCTGAGGCTCACGC	0.647000													3	9					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302610	123302610	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:123302610G>A	ENST00000458573.2	+	2	1127	c.970G>A	c.(970-972)Gag>Aag	p.E324K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	324						cytoskeleton	actin binding|tropomyosin binding										GCTGCTGAAGGAGAACACGAC	0.507000													16	55					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55602663	55602663	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:55602663G>A	ENST00000288135.5	+	18	2581		c.e18-1			NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog						male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTATTACAGGCTCGACTAC	0.403000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				21	197					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396774	45396774	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:45396774G>A	ENST00000303230.4	-	4	1107	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	350						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						TCATAGCTTTGAAGAGTGCGT	0.458000													29	38					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100962603	100962603	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:100962603C>G	ENST00000375066.5	-	12	2569	c.2478G>C	c.(2476-2478)ttG>ttC	p.L826F	TBC1D2_ENST00000375064.1_Missense_Mutation_p.L837F|TBC1D2_ENST00000375063.1_Missense_Mutation_p.L377F|TBC1D2_ENST00000342112.5_Missense_Mutation_p.L619F	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	837						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCTGTAGCCTCAAGATCTCCT	0.587000													6	25					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521564	125521564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:125521564G>A	ENST00000431078.1	+	16	2734	c.2370G>A	c.(2368-2370)tgG>tgA	p.W790*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	790	Fibrinogen C-terminal.				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)		GACGCTTCTGGAACGCCGTCT	0.428000													21	36					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600181	58600181	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:58600181C>A	ENST00000240727.6	-	3	826	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G143C|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G199C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G8C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	143					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGGATGAGCCCGCAGGGGAG	0.602000													3	33					0.115264	0.116372	1	1	0
WDR41	55255	broad.mit.edu	37	5	76785289	76785289	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:76785289C>A	ENST00000296679.4	-	2	535	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Intron	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	54										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TACCTGTAGTCATCTAACTGT	0.348000													21	21					1.87028e-06	1.97902e-06	1	1	0
ACTBL2	345651	broad.mit.edu	37	5	56777788	56777788	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:56777788G>A	ENST00000423391.1	-	1	848	c.747C>T	c.(745-747)atC>atT	p.I249I	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	249						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TCCCAATGGTGATCACCTGCC	0.542000													4	15					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123230170	123230170	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:123230170G>C	ENST00000349780.4	-	18	2253	c.2074C>G	c.(2074-2076)Cca>Gca	p.P692A	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P692A|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P692A|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P692A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	692					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGTCTATCTGGAAACCCATTT	0.418000													87	19					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585391	51585391	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:51585391G>A	ENST00000389243.4	-	10	1487	c.548C>T	c.(547-549)tCa>tTa	p.S183L	POU6F1_ENST00000550824.1_Missense_Mutation_p.S183L|POU6F1_ENST00000333640.10_Missense_Mutation_p.S183L			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	183	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCAGATGGCTGACTGGCTGTA	0.612000													22	20					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70679432	70679432	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:70679432G>C	ENST00000449580.1	+	37	5245	c.5194G>C	c.(5194-5196)Gat>Cat	p.D1732H	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1698H|TAF1_ENST00000276072.3_Missense_Mutation_p.D1719H|TAF1_ENST00000423759.1_Missense_Mutation_p.D1721H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1698	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGATCTTGCAGATGAAGAGGA	0.483000													4	21					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578808	44578808	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:44578808G>T	ENST00000289547.4	-	2	1243	c.1188C>A	c.(1186-1188)ttC>ttA	p.F396L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.F396L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.F396L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F396L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	396					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGGTCATGGAAAGCTTTCT	0.607000													17	106					3.32936e-07	3.54768e-07	1	1	0
RSU1	6251	broad.mit.edu	37	10	16635397	16635397	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:16635397C>G	ENST00000377921.3	-	8	1131	c.830G>C	c.(829-831)aGa>aCa	p.R277T	RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.R224T|RSU1_ENST00000345264.5_Missense_Mutation_p.R277T			Q15404	RSU1_HUMAN	Ras suppressor protein 1	277					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		CCTTCCTTATCTGTTCTTGGC	0.507000													24	11					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692736	48692736	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:48692736C>G	ENST00000352832.5	+	25	5044	c.4672C>G	c.(4672-4674)Cct>Gct	p.P1558A	CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1592A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1551A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1599A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1581A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1547A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1558A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1574A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1558A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1558A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1535A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1581A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1592A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1574A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1547A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1569A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1581A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1592A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1569A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1592A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1581A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1540A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1558A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1574A|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1592A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1592					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGTGCAAACCTTACTACTC	0.637000													3	21					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017410	93017410	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:93017410G>A	ENST00000523629.1	-	6	1128	c.674C>T	c.(673-675)tCa>tTa	p.S225L	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S188L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S198L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S198L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S188L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S188L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S236L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S188L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S225L	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)	225					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)			GTCAACAGGTGAGGTGGTGCT	0.582000													9	60					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83259125	83259125	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:83259125C>G	ENST00000296591.5	-	10	1610	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	EDIL3_ENST00000380138.3_Missense_Mutation_p.D388H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	398	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGACCAAAATCTTTAGCTCCT	0.383000													30	31					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863443	144863443	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:144863443C>T	ENST00000369359.4	-	40	6407		c.e40-1		PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGCTGCAGTCTGACCAGGGA	0.527000			T	PDGFRB	MPD								21	187					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18429630	18429630	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:18429630G>C	ENST00000357236.4	-	8	944	c.285C>G	c.(283-285)ctC>ctG	p.L95L	DZANK1_ENST00000329494.5_Silent_p.L211L|DZANK1_ENST00000358866.6_Silent_p.L209L|DZANK1_ENST00000262547.5_Silent_p.L209L|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	36						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATACTTACTTGAGAAAGTCTG	0.383000													16	42					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676192	183676192	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:183676192G>T	ENST00000511685.1	+	22	4795	c.4672G>T	c.(4672-4674)Gac>Tac	p.D1558Y	TENM3_ENST00000406950.2_Missense_Mutation_p.D1558Y|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGCTGTGACAGACAGCAATGG	0.413000													9	5					0.307466	0.30837	1	1	0
ZC2HC1C	79696	broad.mit.edu	37	14	75538559	75538559	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:75538559C>A	ENST00000524913.1	+	2	1772	c.1283C>A	c.(1282-1284)gCt>gAt	p.A428D	ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	0																	AGGGCCCGGGCTAAGGGCACA	0.537000													6	17					0.0293803	0.0297951	1	1	0
CLEC7A	64581	broad.mit.edu	37	12	10277986	10277986	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:10277986G>A	ENST00000353231.5	-	3	422	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CLEC7A_ENST00000298523.5_Silent_p.F88F|CLEC7A_ENST00000533022.1_Silent_p.F134F|CLEC7A_ENST00000304084.8_Silent_p.F134F|CLEC7A_ENST00000396484.2_Silent_p.F55F	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	134					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GTGACATGCTGAATAGATAAC	0.393000													25	6					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391196	139391196	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:139391196G>A	ENST00000277541.6	-	34	7070	c.6995C>T	c.(6994-6996)cCa>cTa	p.P2332L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2332					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGGGGCCTGGTGCCACACT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			15	27					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75115131	75115131	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:75115131A>T	ENST00000290573.2	+	16	2921	c.2321A>T	c.(2320-2322)gAg>gTg	p.E774V	HK2_ENST00000409174.1_Missense_Mutation_p.E746V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	774	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGCATCTCAGAGCGGCTCAAG	0.498000													17	92					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38951691	38951691	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:38951691A>T	ENST00000450244.1	-	8	1165	c.967T>A	c.(967-969)Tcc>Acc	p.S323T	SCN11A_ENST00000456224.3_Missense_Mutation_p.S323T|SCN11A_ENST00000444237.2_Missense_Mutation_p.S323T|SCN11A_ENST00000302328.3_Missense_Mutation_p.S323T			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	323					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTGTATGGAACAGGCACTA	0.393000													32	437					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059539	59059539	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:59059539C>T	ENST00000361488.3	+	5	1630	c.750C>T	c.(748-750)gtC>gtT	p.V250V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	250						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CTTGTGGAGTCAGCCGAAGAC	0.597000													16	44					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47900569	47900569	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:47900569G>C	ENST00000503935.2	+	12	1960	c.924G>C	c.(922-924)aaG>aaC	p.K308N	KAT7_ENST00000259021.4_Missense_Mutation_p.K464N|KAT7_ENST00000424009.2_Missense_Mutation_p.K434N|KAT7_ENST00000510819.1_Missense_Mutation_p.K295N|KAT7_ENST00000454930.2_Missense_Mutation_p.K325N|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000509773.1_Missense_Mutation_p.K354N|KAT7_ENST00000435742.2_Missense_Mutation_p.K278N			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	464					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TTTAGGAAAAGAATTCATTCC	0.398000													12	63					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154197215	154197215	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:154197215C>A	ENST00000338700.5	+	3	451	c.386C>A	c.(385-387)tCc>tAc	p.S129Y	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.S102Y	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	102						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GAGGAGTCTTCCATCCTGGAG	0.577000													16	28					2.94398e-08	3.17671e-08	1	1	0
HES3	390992	broad.mit.edu	37	1	6304674	6304674	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:6304674C>A	ENST00000377898.3	+	3	213	c.148C>A	c.(148-150)Cag>Aag	p.Q50K		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	50	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GAGAAGCCTTCAGAACTCCTT	0.552000													3	4					0.00909568	0.00926538	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741329	135741329	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:135741329C>T	ENST00000370629.2	+	5	597	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160W	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CTGTTCCAATCGGGAAGCTTC	0.463000									Immune Deficiency with Hyper-IgM				175	20					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54482987	54482987	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:54482987C>T	ENST00000375135.3	-	9	2383	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	550	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGTGGCGATCAGCTCCAGAG	0.547000													3	11					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828355	52828355	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:52828355C>T	ENST00000371586.2	-	3	271	c.133G>A	c.(133-135)Gat>Aat	p.D45N	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.D45N	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	45										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGGTCCTCATCATCTTCAGCC	0.572000													23	50					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936114	178936114	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:178936114G>C	ENST00000263967.3	+	10	1813	c.1656G>C	c.(1654-1656)tgG>tgC	p.W552C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	552	PI3K helical.				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.W552*(1)|p.W552C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATTTTCTATGGAGTCACAGGT	0.358000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	24					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10292471	10292471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:10292471C>T	ENST00000377086.1	+	2	287	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	KIF1B_ENST00000377081.1_Nonsense_Mutation_p.Q29*|KIF1B_ENST00000263934.6_Nonsense_Mutation_p.Q29*|KIF1B_ENST00000377083.1_Nonsense_Mutation_p.Q29*|KIF1B_ENST00000377093.4_Nonsense_Mutation_p.Q29*			O60333	KIF1B_HUMAN	kinesin family member 1B	29	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATGCATCATTCAGATGCAAGG	0.463000													3	10					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101023084	101023084	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:101023084G>A	ENST00000264249.3	-	3	439	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CHST10_ENST00000409701.1_Silent_p.F18F|CHST10_ENST00000542617.1_Silent_p.F66F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	18					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TAGCCACCATGAACATGAAAA	0.478000													71	343					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958178	41958178	+	Missense_Mutation	SNP	C	C	T	rs141122901		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:41958178C>T	ENST00000269095.4	-	10	1335	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	MPP2_ENST00000520305.1_Missense_Mutation_p.R205H|MPP2_ENST00000461854.1_Missense_Mutation_p.R368H|MPP2_ENST00000536246.1_Missense_Mutation_p.R333H|MPP2_ENST00000377184.3_Missense_Mutation_p.R361H|MPP2_ENST00000523501.1_Missense_Mutation_p.R333H|MPP2_ENST00000518766.1_Missense_Mutation_p.R389H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	368					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGGGGGCATGCGGGCCACCTC	0.622000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	23					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124221774	124221774	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:124221774G>C	ENST00000546351.1	+	5	1786	c.884G>C	c.(883-885)tGa>tCa	p.*295S	FAM83A_ENST00000276699.6_3'UTR|FAM83A_ENST00000518448.1_3'UTR|FAM83A_ENST00000522648.1_Nonstop_Mutation_p.*295S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	0										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTGACGGCTGAGATGAGGTT	0.433000													14	44					0	0	1	0	0
CLDN5	7122	broad.mit.edu	37	22	19511530	19511530	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:19511530G>A	ENST00000406028.1	-	2	1564	c.504C>T	c.(502-504)ctC>ctT	p.L168L	CLDN5_ENST00000413119.2_Silent_p.L168L|CLDN5_ENST00000403084.1_Silent_p.L168L			O00501	CLD5_HUMAN	claudin 5	83					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CGCTCACGGTGAGCGCCCGCG	0.706000													6	6					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109215315	109215315	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:109215315G>A	ENST00000220849.5	-	12	1258	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	EIF3E_ENST00000519030.1_Missense_Mutation_p.S306L	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	399	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CTGATAGGGTGAGACTGCATT	0.383000													25	75					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16535315	16535315	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:16535315G>C	ENST00000334133.4	-	2	334	c.62C>G	c.(61-63)tCa>tGa	p.S21*		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	21						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTTCAAAGTTGAATAAATATT	0.488000													29	185					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66923665	66923665	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:66923665T>C	ENST00000359742.4	-	5	688	c.448A>G	c.(448-450)Aca>Gca	p.T150A	GRIP1_ENST00000398016.3_Missense_Mutation_p.T150A|GRIP1_ENST00000286445.7_Missense_Mutation_p.T150A			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	150	PDZ 2.				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)		ACCTCCACTGTTCGGAAAATA	0.323000													13	26					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19449624	19449624	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:19449624C>T	ENST00000338883.4	-	7	1097	c.1098G>A	c.(1096-1098)agG>agA	p.R366R	MAP3K15_ENST00000469203.2_Silent_p.R198R|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	366							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCTTGTAGATCCTCCCACACA	0.552000													19	3					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134853654	134853654	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:134853654C>T	ENST00000393114.3	-	2	202	c.21G>A	c.(19-21)gaG>gaA	p.E7E	C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000483029.2_Intron|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	7						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCGTTTTAGTCTCGGATTGTA	0.483000											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	35					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22935925	22935925	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:22935925G>A	ENST00000313077.7	+	9	986	c.861G>A	c.(859-861)aaG>aaA	p.K287K	CYFIP1_ENST00000560848.1_Silent_p.K287K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	287					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGATGCCAAGAAAAGAATAA	0.368000													12	43					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126222869	126222869	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:126222869C>G	ENST00000290868.2	-	9	924	c.871G>C	c.(871-873)Gac>Cac	p.D291H	UROC1_ENST00000383579.3_Missense_Mutation_p.D291H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	291					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCCAAGCTGTCAGTCACTTCC	0.612000													10	41					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109260902	109260902	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:109260902G>T	ENST00000220849.5	-	1	92	c.30C>A	c.(28-30)atC>atA	p.I10I	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	10	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	p.I10I(2)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAAGTGCGCGATGCGAGTAG	0.512000													29	24					3.80469e-20	4.27089e-20	1	1	0
UBR4	23352	broad.mit.edu	37	1	19491806	19491806	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:19491806C>G	ENST00000375267.2	-	31	4252	c.4249G>C	c.(4249-4251)Gag>Cag	p.E1417Q	UBR4_ENST00000375254.3_Missense_Mutation_p.E1417Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E1417Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E1417Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1417					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGAGGTTCTCATTGGCTGTT	0.413000													29	70					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27464072	27464072	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:27464072G>T	ENST00000264705.4	+	37	5947	c.5785G>T	c.(5785-5787)Gtc>Ttc	p.V1929F	CAD_ENST00000403525.1_Missense_Mutation_p.V1866F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1929	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TATCCTGTCCGTCCAGCAGTT	0.592000													34	220					1.62565e-12	1.79241e-12	1	1	0
CAAP1	79886	broad.mit.edu	37	9	26842412	26842412	+	Missense_Mutation	SNP	G	G	C	rs150480255		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:26842412G>C	ENST00000333916.5	-	6	1061	c.973C>G	c.(973-975)Cca>Gca	p.P325A	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.P180A	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	325																	TCTTCTGGTGGAGGAACAGCC	0.473000													35	38					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130075783	130075783	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:130075783C>T	ENST00000373387.4	+	4	735	c.383C>T	c.(382-384)tCt>tTt	p.S128F	GARNL3_ENST00000314904.5_Missense_Mutation_p.S128F|GARNL3_ENST00000435213.2_Missense_Mutation_p.S106F	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	128					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTGACCCTTTCTGACCAAAAC	0.408000													35	57					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12215813	12215813	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:12215813C>T	ENST00000491614.1	-	6	685		c.e6-1		NUDT5_ENST00000378927.3_Splice_Site|NUDT5_ENST00000378937.3_Splice_Site|NUDT5_ENST00000378952.3_Splice_Site|NUDT5_ENST00000378940.3_Splice_Site|NUDT5_ENST00000537776.1_Splice_Site			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TCTATGAGACCTGCAAGTCCA	0.488000													26	173					0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375898	85375898	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:85375898G>C	ENST00000527447.1	-	1	248	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	8					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCTGCCAGCAGCTTGGTCAGG	0.716000													5	15					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4045836	4045836	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:4045836C>G	ENST00000381638.2	-	1	478	c.354G>C	c.(352-354)gaG>gaC	p.E118D	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	118	EF-hand.						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						CGGCCCTGACCTCCTCGAACT	0.697000													7	5					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71021828	71021828	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:71021828C>A	ENST00000318789.4	-	18	2056		c.e18-1		FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000491238.1_Splice_Site	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCACTGCATTCTGCAGCAAGT	0.368000			T	PAX5	ALL								11	11					0.105934	0.10727	1	1	0
TAB1	10454	broad.mit.edu	37	22	39822733	39822733	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:39822733A>G	ENST00000216160.6	+	9	1009	c.947A>G	c.(946-948)gAg>gGg	p.E316G	TAB1_ENST00000331454.3_Missense_Mutation_p.E316G	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	316	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK 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	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATTGACACTGAGTTTGCCAAG	0.637000													15	40					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347367	46347367	+	Silent	SNP	C	C	G	rs149485173		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:46347367C>G	ENST00000245934.7	-	8	1012	c.768G>C	c.(766-768)gcG>gcC	p.A256A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	256					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGAGCCCAGCGCTGTGGTCA	0.567000													11	48					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20541135	20541135	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:20541135T>A	ENST00000504154.1	+	19	2156	c.1904T>A	c.(1903-1905)cTt>cAt	p.L635H	SLIT2_ENST00000503837.1_Missense_Mutation_p.L631H|SLIT2_ENST00000503823.1_Missense_Mutation_p.L627H|SLIT2_ENST00000273739.5_Missense_Mutation_p.L639H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	635					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGCGTTTGCTTTCTTTGTAT	0.383000													24	53					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840809	21840809	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:21840809G>A	ENST00000328843.6	+	63	10133	c.10102G>A	c.(10102-10104)Gag>Aag	p.E3368K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3361K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3368	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCAACAGCTGAGAAAGTCCG	0.383000									Kartagener syndrome				6	23					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948022	237948022	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:237948022C>G	ENST00000366574.2	+	90	13327	c.13010C>G	c.(13009-13011)cCc>cGc	p.P4337R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.P4321R|RYR2_ENST00000360064.6_Missense_Mutation_p.P4343R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4337					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P4335H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCAGACCCCACTCAGGAT	0.552000													10	14					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147636695	147636695	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:147636695G>C	ENST00000367481.3	+	15	1555	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	STXBP5_ENST00000179882.6_Missense_Mutation_p.E154Q|STXBP5_ENST00000321680.6_Missense_Mutation_p.E483Q|STXBP5_ENST00000367480.3_Missense_Mutation_p.E483Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	483					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAAAGTATTTGAAAAGTCAAG	0.313000													10	33					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989117	9989117	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:9989117C>T	ENST00000412055.1	-	4	1869	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	580						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTACACCATGCACCAGCGCCA	0.687000													19	49					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9584997	9584997	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:9584997G>A	ENST00000301480.4	-	4	248	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S12F(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGGTCACGGAGTACTAAAC	0.423000													17	45					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205053	71205053	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:71205053C>T	ENST00000554752.2	-	8	1752	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E585K|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E322K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E585K|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E327K	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	585					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTCCTCCTCCCCTTCCTCC	0.572000													13	37					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131731694	131731694	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:131731694C>T	ENST00000372577.2	+	10	834	c.813C>T	c.(811-813)ctC>ctT	p.L271L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	271					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCAGTGCCCTCATCCTGGTGG	0.438000													26	7					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744569	744569	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:744569C>T	ENST00000381944.3	-	3	887	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.A216T			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	216					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GAGAAGTGGGCGGGAAGGTAG	0.602000													3	14					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712279	140712279	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140712279C>A	ENST00000517417.1	+	1	2028	c.2028C>A	c.(2026-2028)ggC>ggA	p.G676G	PCDHGA1_ENST00000378105.3_Silent_p.G676G	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACCTGGGCAGCCTCGAGC	0.692000													7	48					3.09899e-07	3.30478e-07	1	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45716325	45716325	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:45716325C>G	ENST00000310806.4	-	2	623	c.165G>C	c.(163-165)ttG>ttC	p.L55F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	55					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TATGGTCATTCAATTTTAAGG	0.328000													9	43					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859251	14859251	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:14859251C>A	ENST00000380881.4	-	5	1376	c.561G>T	c.(559-561)caG>caT	p.Q187H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q187H|FREM1_ENST00000380880.3_Missense_Mutation_p.Q187H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	187					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGAGAACCATCTGGCCATGGG	0.507000													15	57					6.31663e-08	6.78379e-08	1	1	0
LIG1	3978	broad.mit.edu	37	19	48630536	48630536	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:48630536C>G	ENST00000263274.7	-	21	2421	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	LIG1_ENST00000536218.1_Missense_Mutation_p.E600Q|LIG1_ENST00000427526.2_Missense_Mutation_p.E637Q|CTC-453G23.5_ENST00000596563.1_RNA|CTC-453G23.5_ENST00000596839.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	668					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAACTCACCTCTCCATTGAGG	0.602000								Nucleotide excision repair (NER)					40	57					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972598	235972598	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:235972598G>A	ENST00000389794.3	-	5	1694	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	LYST_ENST00000536965.1_Missense_Mutation_p.S507F|LYST_ENST00000389793.2_Missense_Mutation_p.S507F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	507					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATAAAATGAGAATATTCACA	0.378000													29	33					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718600	73718600	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:73718600G>C	ENST00000264448.6	+	10	9622	c.9511G>C	c.(9511-9513)Gag>Cag	p.E3171Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3129Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3171					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCCAATCCAGAGGGGACCCC	0.408000													12	34					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42407597	42407597	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:42407597G>A	ENST00000379310.3	-	13	1564	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	VWA8_ENST00000281496.6_Missense_Mutation_p.S499L	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CACAAGGGGTGAGGACCGCCA	0.537000													5	5					0	0	1	0	0
C4orf36	132989	broad.mit.edu	37	4	87809000	87809000	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:87809000C>T	ENST00000473559.1	-	7	930	c.267G>A	c.(265-267)ctG>ctA	p.L89L	C4orf36_ENST00000295898.3_Silent_p.L89L			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	89										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		CTTGACACTTCAGTTTACAAA	0.388000													9	9					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942597	154942597	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:154942597G>A	ENST00000448116.2	-	1	626	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	SHC1_ENST00000368453.4_Missense_Mutation_p.R26C|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.R136C|SHC1_ENST00000368450.1_Missense_Mutation_p.R26C	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	136					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGTGGCGGGTCCACTCC	0.647000													5	95					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632261	111632261	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:111632261G>C	ENST00000431670.2	+	3	1842	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H	PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504H|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477H|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63H|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477H|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477H|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477H	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	477						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGATGTGCAGAAAATCAACA	0.522000													43	52					0	0	1	0	0
LYRM7	90624	broad.mit.edu	37	5	130522801	130522801	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:130522801G>C	ENST00000379380.4	+	4	454	c.243G>C	c.(241-243)ctG>ctC	p.L81L	LYRM7_ENST00000510516.1_Intron|LYRM7_ENST00000507584.1_Intron	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	81										upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAATACACTGAGTAAGTAAA	0.289000													8	13					0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627616	31627616	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:31627616C>G	ENST00000375911.1	-	1	933	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	37										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CCTGAATTCTCCGAGGAGCTG	0.617000													13	101					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:35060934G>A	ENST00000373913.3	+	3	1294	c.814G>A	c.(814-816)Gca>Aca	p.A272T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A272T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A272T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A272T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	272	Poly-Pro.				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)				ACCCCCGCCCGCACCCCCAGC	0.627000													6	8					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49758047	49758047	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49758047C>T	ENST00000327697.6	+	36	3748	c.3604C>T	c.(3604-3606)Ctg>Ttg	p.L1202L	AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Silent_p.L314L|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1202						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)		TGGCACTGCTCTGCCAGCCCC	0.622000													9	17					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868649	61868649	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:61868649C>T	ENST00000280772.2	-	27	3303	c.3112G>A	c.(3112-3114)Gaa>Aaa	p.E1038K	ANK3_ENST00000355288.2_Missense_Mutation_p.E172K|ANK3_ENST00000373827.2_Missense_Mutation_p.E1032K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1039K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		ZU5.			MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCTCTCCTTCCACCATGGGG	0.498000													25	18					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219647124	219647124	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:219647124C>T	ENST00000258415.4	+	1	646	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	73					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.F73L(1)|p.F73F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TTCAGCTGTTCGTTCAAGGCT	0.632000													5	20					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23893848	23893848	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:23893848C>G	ENST00000546136.1	-	4	657	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	SOX5_ENST00000537393.1_Missense_Mutation_p.E197Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E222Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E219Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E219Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E222Q|SOX5_ENST00000451604.2_Missense_Mutation_p.E232Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E219Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	232					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGCTGTTTCTCAATCTGAGAG	0.498000													17	35					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618403	89618403	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:89618403A>G	ENST00000294671.2	-	4	514	c.376T>C	c.(376-378)Ttt>Ctt	p.F126L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	126						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTGTAGACAAAGCTGCTGCTT	0.468000													8	30					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961628	26961628	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:26961628C>T	ENST00000528896.2	-	16	3051	c.2977G>A	c.(2977-2979)Gag>Aag	p.E993K	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E850K|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E850K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	993						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGATCAAGCTCTTGAACCTGT	0.522000													25	52					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985609	6985609	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:6985609G>C	ENST00000389658.3	-	38	5506	c.5413C>G	c.(5413-5415)Ctg>Gtg	p.L1805V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1805	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGAGGTCAGATTTTGTTCT	0.438000													12	84					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66723491	66723491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:66723491C>T	ENST00000423207.2	+	4	969	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PDE4B_ENST00000371049.3_Nonsense_Mutation_p.R177*|PDE4B_ENST00000329654.4_Nonsense_Mutation_p.R177*|PDE4B_ENST00000371048.3_3'UTR	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	177					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGCCAGCTTGCGAAGTGTGAG	0.393000													16	52					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144920870	144920870	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:144920870C>G	ENST00000442628.2	-	10	961	c.822G>C	c.(820-822)ctG>ctC	p.L274L	NRBP2_ENST00000327830.5_Silent_p.L31L	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	274	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGGTCACTCAGCGAGTGCC	0.642000													4	11					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881390	26881390	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:26881390C>G	ENST00000231021.4	-	12	2397	c.2225G>C	c.(2224-2226)gGg>gCg	p.G742A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGAATCATTCCCTTCATAGGC	0.418000													29	79					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850568	99850568	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:99850568C>G	ENST00000369239.5	-	11	1379	c.1175G>C	c.(1174-1176)gGa>gCa	p.G392A	PNISR_ENST00000438806.1_Missense_Mutation_p.G392A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	392						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTCCTGATCCATAACCACC	0.413000													20	105					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538741	56538741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:56538741G>A	ENST00000390649.3	+	7	1142	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	381	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGCAAAGACTGGGCTGAGAAG	0.547000													4	19					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743766	130743766	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:130743766T>C	ENST00000264992.3	-	3	826	c.385A>G	c.(385-387)Aag>Gag	p.K129E	ASTE1_ENST00000514044.1_Missense_Mutation_p.K129E	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	129					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACCCGCAGCTTGATCAAAACC	0.463000													8	30					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31856387	31856387	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:31856387C>G	ENST00000543095.2	-	8	1312	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N	HEATR5A_ENST00000389961.3_Missense_Mutation_p.K370N|HEATR5A_ENST00000404677.3_Missense_Mutation_p.K376N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.K370N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.K83N	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	370							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAAGCTGAGCCTTTTCTCCAA	0.443000													16	40					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45860736	45860736	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:45860736G>C	ENST00000391945.4	-	14	1450	c.1373C>G	c.(1372-1374)tCt>tGt	p.S458C	ERCC2_ENST00000391944.3_Missense_Mutation_p.S380C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	458	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTTACCCCAGATGTGATGAT	0.632000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	25					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38142836	38142836	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:38142836C>T	ENST00000481247.1	-	11	1915	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	BTBD9_ENST00000419706.2_Silent_p.L558L|BTBD9_ENST00000314100.6_Silent_p.L520L|BTBD9_ENST00000408958.1_Silent_p.L520L|BTBD9_ENST00000403056.1_Silent_p.L588L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	588					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TAGGCGCCCGCAGCGCATGGG	0.637000													23	49					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256871	47256871	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:47256871G>C	ENST00000256996.4	+	7	1126	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Missense_Mutation_p.E247Q|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	311					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCAGAAGAGCGAGATCCGAGT	0.602000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	53					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114317	57114317	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:57114317C>G	ENST00000454682.1	-	3	1278	c.997G>C	c.(997-999)Gac>Cac	p.D333H	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.D333H|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACTGTAGGGTCTGACAAAGCA	0.443000			T	BCL6	NHL								7	8					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96864415	96864415	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:96864415C>G	ENST00000267584.4	+	2	153	c.109C>G	c.(109-111)Cta>Gta	p.L37V	AK7_ENST00000555570.1_Missense_Mutation_p.L37V	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	37					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTGCAGTTTCTATCTAACTG	0.418000													16	26					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756481	49756481	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49756481G>T	ENST00000535833.1	-	10	3868	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L140M|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	140					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTATTGAACAGAAGCAGCTTC	0.632000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	18					1.06801e-11	1.17095e-11	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8750343	8750343	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:8750343C>T	ENST00000276282.6	-	1	812	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	76										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGTACCTCCTCCAGGCCGTTG	0.751000													5	2					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400727	151400727	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:151400727G>A	ENST00000271715.2	-	6	1045	c.731C>T	c.(730-732)tCc>tTc	p.S244F	POGZ_ENST00000409503.1_Missense_Mutation_p.S244F|POGZ_ENST00000531094.1_Missense_Mutation_p.S191F|POGZ_ENST00000361398.3_Missense_Mutation_p.S191F|POGZ_ENST00000368863.2_Missense_Mutation_p.S149F|POGZ_ENST00000491586.1_Missense_Mutation_p.S191F|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000392723.1_Missense_Mutation_p.S191F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	244					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGACTGGGACTGTGGGAC	0.607000													99	42					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915940	127915940	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:127915940G>A	ENST00000451402.1	-	7	872	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PPP6C_ENST00000373547.4_Missense_Mutation_p.R181W|PPP6C_ENST00000373546.3_Missense_Mutation_p.R34W|PPP6C_ENST00000415905.1_Missense_Mutation_p.R159W	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	181					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTGATTCCGTTCGATGGTT	0.423000													6	36					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851211	51851211	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:51851211C>G	ENST00000453097.2	+	6	868	c.651C>G	c.(649-651)ctC>ctG	p.L217L	SLC4A8_ENST00000514353.3_Silent_p.L164L|SLC4A8_ENST00000358657.3_Silent_p.L244L|SLC4A8_ENST00000535225.2_Silent_p.L164L|SLC4A8_ENST00000394856.1_Silent_p.L164L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	217					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGCCCTTCTCAAAAAGCATC	0.463000													5	30					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41131821	41131821	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:41131821C>G	ENST00000308370.7	+	31	4090	c.4090C>G	c.(4090-4092)Cgg>Ggg	p.R1364G	LTBP4_ENST00000396819.3_Missense_Mutation_p.R1297G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R732G|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1327G|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1365	TB 4.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCCACCCTCGGCTGGACCG	0.637000													4	6					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142627249	142627249	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:142627249T>C	ENST00000265310.1	-	3	601	c.253A>G	c.(253-255)Ata>Gta	p.I85V	TRPV5_ENST00000442623.1_Missense_Mutation_p.I85V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	85					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.I85V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGGCTGCTATGTGCAGCGCC	0.567000													22	31					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930642	144930642	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:144930642G>A	ENST00000529945.1	-	1	1506	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S356L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1941					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S356*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGCAGGTCTGAAAGCTCCAA	0.478000			T	PDGFRB	MPD								24	147					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103353179	103353179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:103353179C>A	ENST00000258436.5	-	1	134	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCTCCGCCTCGGTTCCTGTC	0.672000													39	18					1.66425e-11	1.82319e-11	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139391744	139391744	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:139391744G>C	ENST00000277541.6	-	34	6522	c.6447C>G	c.(6445-6447)ctC>ctG	p.L2149L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2149					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCCGGGCTTGAGGCTGCCCA	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	8					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060058	16060058	+	Missense_Mutation	SNP	C	C	G	rs146844766		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:16060058C>G	ENST00000322107.1	+	1	241	c.241C>G	c.(241-243)Cgc>Ggc	p.R81G		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATCACCCCTCGCATGCTGGC	0.507000													32	112					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154032967	154032967	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:154032967G>C	ENST00000496811.1	-	3	551	c.471C>G	c.(469-471)atC>atG	p.I157M	DHX36_ENST00000308361.6_Missense_Mutation_p.I157M|DHX36_ENST00000329463.5_Missense_Mutation_p.I157M|DHX36_ENST00000544526.1_Missense_Mutation_p.I157M	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	157						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATCTGTTCCTGATTCTAAACA	0.333000													5	45					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52668631	52668631	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:52668631C>T	ENST00000399231.3	-	19	2576	c.2333G>A	c.(2332-2334)cGa>cAa	p.R778Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.R778Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R778Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R778Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R778Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	778	IQ 1.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAGCCACCCTCGGATGGTCTT	0.542000													18	44					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108155033	108155033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:108155033C>T	ENST00000278616.4	+	26	4211	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q1276*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1276					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAATCAGATTCAAGAGGACTG	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			29	61					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5231330	5231330	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5231330C>T	ENST00000372412.4	-	14	2382	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N	PTPRS_ENST00000262963.6_Missense_Mutation_p.D712N|PTPRS_ENST00000587303.1_Missense_Mutation_p.D716N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D703N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D703N|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.D716N|PTPRS_ENST00000353284.2_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	716					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCATCCTCGTCGGTGCGGACG	0.692000													8	23					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833481	97833481	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:97833481C>T	ENST00000297293.5	+	13	4759	c.4466C>T	c.(4465-4467)tCg>tTg	p.S1489L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1489				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGACCGACTCGGACATCGAG	0.662000													22	57					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084966	17084966	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:17084966C>T	ENST00000455405.2	-	0	222																											CTCACCGATTCCGCAAGCTGA	0.617000													3	19					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50241826	50241826	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:50241826T>A	ENST00000338821.5	-	18	2185	c.1921A>T	c.(1921-1923)Atg>Ttg	p.M641L	ATP9A_ENST00000402822.1_Missense_Mutation_p.M520L|ATP9A_ENST00000311637.5_Missense_Mutation_p.M505L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	641					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCATCTCCATCTCCAGGCTC	0.632000													13	22					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047954	86047954	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:86047954G>A	ENST00000451137.2	+	3	845	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	207					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		GCAGCTCACTGAAGCGGCTCC	0.498000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	47					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631103	56631103	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:56631103C>T	ENST00000266980.4	+	10	1751	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	SLC39A5_ENST00000454355.2_Silent_p.L486L|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	486					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGTCTTCCTCTATGTGGCCC	0.647000													13	9					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43360290	43360290	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:43360290C>T	ENST00000395891.2	+	5	1014	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	HECW1_ENST00000453890.1_Missense_Mutation_p.H137Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAATGGTTCTCATCGGGGCCA	0.458000													45	32					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749089	33749089	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:33749089A>T	ENST00000403687.3	+	8	1400	c.660A>T	c.(658-660)gaA>gaT	p.E220D	RASGRP3_ENST00000402538.3_Missense_Mutation_p.E220D|RASGRP3_ENST00000407811.1_Missense_Mutation_p.E220D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	220	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAAGGGCAGAAGTCATCACAA	0.403000													27	159					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873153	55873153	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:55873153T>C	ENST00000313503.1	+	1	635	c.635T>C	c.(634-636)tTc>tCc	p.F212S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTGTCCCTTTTCACAATATCT	0.408000										HNSCC(53;0.14)			30	122					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234296988	234296988	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:234296988C>T	ENST00000264057.2	+	2	254	c.242C>T	c.(241-243)aCg>aTg	p.T81M	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000489613.1_3'UTR|DGKD_ENST00000409813.3_Missense_Mutation_p.T37M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	81	PH.				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)	CGAGGGCGAACGCTTTACTAT	0.512000													9	34					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122359365	122359365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:122359365G>T	ENST00000288912.4	+	2	1008	c.154G>T	c.(154-156)Gag>Tag	p.E52*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E52*|RP11-87C12.2_ENST00000546333.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	52	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGTCTCaggaggaggagag	0.453000													7	46					8.12818e-05	8.40528e-05	1	1	0
PHF20	51230	broad.mit.edu	37	20	34505449	34505449	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:34505449G>C	ENST00000374012.3	+	13	1998	c.1869G>C	c.(1867-1869)tgG>tgC	p.W623C	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTTTCTCTGGAGTGATGATG	0.438000													5	14					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9002789	9002789	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:9002789C>T	ENST00000299698.7	+	18	2333	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S227L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	562						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTGAGTCATCAACTCCTTTA	0.448000													18	61					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052159	17052159	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:17052159C>G	ENST00000418129.2	+	2	1408	c.943C>G	c.(943-945)Cat>Gat	p.H315D	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.H315D|PLCL2_ENST00000396755.2_Missense_Mutation_p.H315D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	441					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAACTCATCTCATAATACATA	0.388000													33	112					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77438534	77438534	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:77438534T>G	ENST00000322886.7	-	6	1106	c.871A>C	c.(871-873)Agc>Cgc	p.S291R	E2F7_ENST00000416496.2_Missense_Mutation_p.S291R	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	291					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AACTTCTGGCTCATAATTCTC	0.393000													19	47					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161173249	161173249	+	Missense_Mutation	SNP	G	G	C	rs71639051		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:161173249G>C	ENST00000392179.4	+	2	357	c.118G>C	c.(118-120)Gat>Cat	p.D40H	NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000367993.3_Missense_Mutation_p.D40H	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	40					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GTGGCAGCCAGATGTGGAATG	0.532000													7	29					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222249	131222249	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:131222249G>T	ENST00000337057.3	-	7	1182	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	EPB41L2_ENST00000527659.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000530481.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000525271.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A334D|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A334D|EPB41L2_ENST00000392427.3_Missense_Mutation_p.A334D|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A334D|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A334D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	334	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCCAGGAGAGCATGAGTCAC	0.547000													16	67					6.31663e-08	6.78379e-08	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955474	18955474	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:18955474G>C	ENST00000302797.3	-	1	1082	c.858C>G	c.(856-858)aaC>aaG	p.N286K		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	286					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAGCTTCAGGTTCTGCCTAT	0.522000													41	61					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219359	56219359	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:56219359C>G	ENST00000381226.3	-	13	1279	c.1264G>C	c.(1264-1266)Gat>Cat	p.D422H	MIER3_ENST00000381199.3_Missense_Mutation_p.D417H|MIER3_ENST00000381213.3_Missense_Mutation_p.D416H|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.D354H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AAGCTATCATCCAAACAATTC	0.458000													9	19					0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101170033	101170033	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:101170033G>C	ENST00000332783.7	+	5	1388	c.603G>C	c.(601-603)caG>caC	p.Q201H	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.Q201H	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	201					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGTTCCTTCAGAGAGGGGCAG	0.473000													7	18					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122433155	122433155	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:122433155G>C	ENST00000474629.2	+	12	4145	c.3879G>C	c.(3877-3879)ttG>ttC	p.L1293F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1293	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTGGATTTTTGAGGTGCAAGA	0.363000													6	19					0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12814653	12814653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:12814653G>A	ENST00000540510.1	-	2	922	c.730C>T	c.(730-732)Caa>Taa	p.Q244*	GPR19_ENST00000332427.2_Nonsense_Mutation_p.Q244*			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	244						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ATGACCTTTTGGTAAAATAAA	0.423000													11	19					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3644145	3644145	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:3644145G>A	ENST00000335312.3	-	12	1538	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R484W|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R484W|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R484W	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	484					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTCCTCCCGCTCGCTAGGG	0.697000													27	11					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158719	26158719	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:26158719G>A	ENST00000289316.2	+	1	346	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.A108T	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	108					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GGGGGAGCTGGCCAAGCACGC	0.607000													17	205					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131311793	131311793	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:131311793C>G	ENST00000261653.6	-	2	216	c.50G>C	c.(49-51)gGa>gCa	p.G17A	STX2_ENST00000392373.2_Missense_Mutation_p.G17A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	17					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	p.G17A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTGTGTCTCCATCATCATT	0.353000													19	46					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332352	70332352	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:70332352G>T	ENST00000373644.4	+	2	466	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	86					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTTGGATAGGACTGAGGTT	0.478000													13	49					4.3838e-07	4.66398e-07	1	1	0
APEX2	27301	broad.mit.edu	37	X	55033586	55033586	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:55033586G>A	ENST00000374987.3	+	6	1341	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	425					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGACCCCGAAGACTCCAGAAG	0.552000								Other BER factors					20	1					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12178148	12178148	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:12178148C>A	ENST00000379020.4	+	3	181	c.120C>A	c.(118-120)ttC>ttA	p.F40L	SEC61A2_ENST00000379017.3_Missense_Mutation_p.F40L|SEC61A2_ENST00000379051.1_Missense_Mutation_p.F40L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.F40L|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000304267.8_Missense_Mutation_p.F40L			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	40						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TAACGCTCTTCATTTTCTTAG	0.313000													15	67					4.7546e-09	5.15491e-09	1	1	0
FLVCR2	55640	broad.mit.edu	37	14	76107349	76107349	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:76107349C>G	ENST00000238667.4	+	7	1643	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.L144L|FLVCR2_ENST00000539311.1_Silent_p.L224L|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	429					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGTGGAGCTCACGTACCCAG	0.498000													13	42					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41267787	41267787	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:41267787C>A	ENST00000357654.3	-	3	208	c.90G>T	c.(88-90)ttG>ttT	p.L30F	BRCA1_ENST00000354071.3_Missense_Mutation_p.L30F|BRCA1_ENST00000309486.4_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.L30F|BRCA1_ENST00000493795.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.L30F|BRCA1_ENST00000352993.3_Missense_Mutation_p.L30F|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.L30F|BRCA1_ENST00000468300.1_Missense_Mutation_p.L30F|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.L30F	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	30			L -> F (in a breast cancer sample; somatic mutation).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.L30F(2)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTTGATCAACTCCAGAC	0.343000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			13	13					1.36491e-13	1.50981e-13	1	1	0
IGLV3-22	28795	broad.mit.edu	37	22	23047190	23047190	+	RNA	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:23047190C>A	ENST00000390307.2	+	0	292																											ACCCTGGAATCCCTGAACGAT	0.547000													21	22					3.62473e-10	3.95504e-10	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804440	22804440	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:22804440C>T	ENST00000361524.3	-	4	3590	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E928K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E1148K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1148					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTTCAGACTCAAACTTAACG	0.517000			T	PAX5	ALL								31	6					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96244713	96244713	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:96244713C>G	ENST00000437043.3	+	14	2772	c.2061C>G	c.(2059-2061)ctC>ctG	p.L687L	ERAP2_ENST00000379904.4_Silent_p.L642L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	687					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTTACTACCTCCAACATGAAA	0.398000													10	43					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524978	9524978	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:9524978G>A	ENST00000592904.1	-	5	2699	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ZNF266_ENST00000361451.2_Missense_Mutation_p.S208L|ZNF266_ENST00000588221.1_Missense_Mutation_p.S208L|ZNF266_ENST00000592292.1_Missense_Mutation_p.S208L|ZNF266_ENST00000590306.1_Missense_Mutation_p.S208L|ZNF266_ENST00000361151.1_Missense_Mutation_p.S208L|ZNF266_ENST00000588933.1_Missense_Mutation_p.S208L			Q14584	ZN266_HUMAN	zinc finger protein 266	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GGGTTTTTCTGACCTGTGAGT	0.413000													30	28					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66969356	66969356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:66969356C>T	ENST00000317091.4	+	1	994	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	CES2_ENST00000417689.1_Nonsense_Mutation_p.Q4*	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0				Missing (in Ref. 2; AA sequence).	catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TATGACTGCTCAGTCCCGCTC	0.647000													14	37					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381781	68381781	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:68381781C>G	ENST00000361478.1	-	2	1678	c.1301G>C	c.(1300-1302)gGc>gCc	p.G434A	PJA1_ENST00000374571.4_Missense_Mutation_p.G379A|PJA1_ENST00000374584.3_Missense_Mutation_p.G246A|PJA1_ENST00000374583.1_Missense_Mutation_p.G434A	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	434							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GCCATTGCTGCCAGCACTGGC	0.602000													14	18					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77346558	77346558	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:77346558C>T	ENST00000267970.4	-	4	667	c.394G>A	c.(394-396)Gat>Aat	p.D132N	TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000559494.1_Missense_Mutation_p.D43N|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.D107N|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000424443.3_Missense_Mutation_p.D68N	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	132						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		CTAGCAGCATCAGGGTTGGTT	0.418000													20	19					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935485	56935485	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:56935485T>C	ENST00000333201.9	+	5	1668	c.1458T>C	c.(1456-1458)caT>caC	p.H486H	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Silent_p.H486H	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAGAATTCATACTGGAGAGA	0.383000													15	66					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62357989	62357989	+	Silent	SNP	G	G	C	rs148384115		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:62357989G>C	ENST00000283268.3	-	2	849	c.555C>G	c.(553-555)ctC>ctG	p.L185L	FEZF2_ENST00000475839.1_Silent_p.L185L|FEZF2_ENST00000486811.1_Silent_p.L185L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	185					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCCGCTGAGGAGCTCAGACG	0.662000													6	0					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881385	18881385	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:18881385C>G	ENST00000388995.6	-	5	1817	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	FAM83G_ENST00000345041.4_Missense_Mutation_p.E532Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E532Q|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	532										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGAGCTTCCTCTTTGGGGAGC	0.637000													11	46					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5684914	5684914	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5684914C>G	ENST00000581521.1	+	4	546	c.71C>G	c.(70-72)cCa>cGa	p.P24R	HSD11B1L_ENST00000577917.1_Missense_Mutation_p.P24R|HSD11B1L_ENST00000577701.1_Intron|HSD11B1L_ENST00000583928.1_Intron|HSD11B1L_ENST00000339423.2_Missense_Mutation_p.P24R|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.P24R|HSD11B1L_ENST00000411793.2_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.P24R|HSD11B1L_ENST00000342970.2_Intron|HSD11B1L_ENST00000422535.2_Missense_Mutation_p.P24R|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Intron|HSD11B1L_ENST00000423665.2_Missense_Mutation_p.P24R			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	24						extracellular region	binding|oxidoreductase activity										AACTTCGACCCAGGTGAGCAC	0.637000													16	10					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507765	1507765	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:1507765C>G	ENST00000345913.4	+	14	2523	c.2432C>G	c.(2431-2433)tCt>tGt	p.S811C	TPO_ENST00000349624.3_Missense_Mutation_p.S638C|TPO_ENST00000329066.4_Missense_Mutation_p.S811C|TPO_ENST00000382201.3_Missense_Mutation_p.S754C|TPO_ENST00000382198.1_Missense_Mutation_p.S638C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.S811C|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	811	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCACGCCTCTGCGAGGTGC	0.627000													4	44					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424083	89424083	+	RNA	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:89424083C>A	ENST00000532352.1	+	0	1546							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.H245Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCCACTGTATCACAGTGTCTA	0.358000													21	11					6.38683e-12	7.01934e-12	1	1	0
SIRT2	22933	broad.mit.edu	37	19	39379741	39379741	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:39379741G>A	ENST00000249396.7	-	8	788	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	SIRT2_ENST00000358931.5_Missense_Mutation_p.R163C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R126C	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	163	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GTGTAGCAGCGCAGGAGTAGC	0.627000													10	47					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122701308	122701308	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:122701308C>T	ENST00000464942.2	-	3	1658	c.265G>A	c.(265-267)Gag>Aag	p.E89K	DIABLO_ENST00000267169.6_Missense_Mutation_p.E89K|DIABLO_ENST00000413918.1_Missense_Mutation_p.E98K|DIABLO_ENST00000353548.6_Missense_Mutation_p.E98K|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.E142K	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	142				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTGCTTACCTCAGCTCTGGCT	0.378000													10	69					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627716	65627716	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:65627716G>C	ENST00000327987.4	-	4	849	c.598C>G	c.(598-600)Cga>Gga	p.R200G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	200	Ig-like C2-type 2.							p.R200*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTCAGCTCGAAGTCCTGTG	0.582000													26	13					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023170	140023170	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140023170C>T	ENST00000394671.3	+	8	929	c.828C>T	c.(826-828)ctC>ctT	p.L276L	TMCO6_ENST00000252100.6_Silent_p.L282L|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.L36L	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	276					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCTGCTCATTGGCCATG	0.547000													63	90					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435583	18435583	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:18435583G>A	ENST00000433979.1	+	2	684	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E190K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E190K|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E190K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	190					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CATGCCGAAAGAAGAGAATAA	0.378000													20	47					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154130121	154130121	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:154130121C>T	ENST00000368533.3	-	8	793	c.741G>A	c.(739-741)gaG>gaA	p.E247E	TPM3_ENST00000271850.7_Silent_p.E284E|TPM3_ENST00000330188.9_Silent_p.E247E|TPM3_ENST00000341372.3_Silent_p.E222E|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000341485.5_Silent_p.E231E|TPM3_ENST00000302206.5_Silent_p.E157E|TPM3_ENST00000328159.4_3'UTR	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	283					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CGTTCTACATCTCATTCAGGT	0.552000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								35	99					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147585	220147585	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:220147585C>G	ENST00000336576.5	+	6	667	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	DNAJB2_ENST00000392086.4_Missense_Mutation_p.Q127E|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	127					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGAGCTTCAGAACCGGGG	0.537000													10	28					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742684	98742684	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:98742684G>A	ENST00000286067.2	+	1	1644	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	513										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAACTTTCGGATTCTTCCTC	0.398000													17	59					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114216	56114216	+	Missense_Mutation	SNP	G	G	A	rs148906625		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:56114216G>A	ENST00000279783.2	+	1	796	c.702G>A	c.(700-702)atG>atA	p.M234I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTCTCAGAATGAACTCAAGGA	0.383000										HNSCC(65;0.19)			5	43					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851636	61851636	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:61851636G>A	ENST00000577390.1	-	7	1978	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	CDH8_ENST00000299345.6_Splice_Site_p.P342S|CDH8_ENST00000577730.1_Splice_Site_p.P342S|CDH8_ENST00000584337.1_Splice_Site_p.P342S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	342	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAGTCCAGAGGCTGTTAAGAA	0.418000													22	19					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9547829	9547829	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:9547829T>G	ENST00000400556.3	-	20	2884	c.2811A>C	c.(2809-2811)aaA>aaC	p.K937N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K920N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	937					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CTTCGGAGATTTTGGTACTGG	0.532000													16	106					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85622437	85622437	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:85622437G>C	ENST00000280245.4	+	8	1298	c.786G>C	c.(784-786)aaG>aaC	p.K262N	CCDC83_ENST00000342404.3_Missense_Mutation_p.K262N|CCDC83_ENST00000376067.1_Missense_Mutation_p.K163N|CCDC83_ENST00000529676.2_3'UTR	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	262										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGGATCTCAAGATACCCAGGT	0.289000													8	133					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665800	19665800	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:19665800C>G	ENST00000328041.6	+	12	1316	c.1119C>G	c.(1117-1119)atC>atG	p.I373M		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	373						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGTGGCCATCAAAATCCCAA	0.547000													16	34					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829776	100829776	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:100829776C>A	ENST00000358544.2	+	45	8292	c.8181C>A	c.(8179-8181)atC>atA	p.I2727I	VPS13B_ENST00000357162.2_Silent_p.I2702I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2727					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATTATCATCTGTGGAAGAC	0.348000													15	150					7.05477e-17	7.89324e-17	1	1	0
LRMP	4033	broad.mit.edu	37	12	25222348	25222348	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:25222348G>A	ENST00000354454.3	+	5	836	c.7G>A	c.(7-9)Gat>Aat	p.D3N	LRMP_ENST00000548766.1_Missense_Mutation_p.D3N|LRMP_ENST00000547044.1_Missense_Mutation_p.D3N	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	59					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CAGGATGAATGATGACCCAAG	0.463000													21	11					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71960475	71960475	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:71960475G>A	ENST00000266674.5	+	10	1304	c.993G>A	c.(991-993)gaG>gaA	p.E331E	LGR5_ENST00000540815.2_Silent_p.E307E|LGR5_ENST00000536515.1_Silent_p.E259E			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	331						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAAACCTGGAGAGTCTGTAAG	0.393000													15	38					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48619005	48619005	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:48619005C>T	ENST00000268933.3	+	9	2114	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.S540L	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	512						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AACCTTGACTCGTTGGTCAAG	0.592000													4	50					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31948245	31948245	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:31948245G>C	ENST00000375331.2	+	6	987	c.821G>C	c.(820-822)gGa>gCa	p.G274A	STK19_ENST00000375333.2_Missense_Mutation_p.G278A	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	278						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GTGAATGCTGGAGTCCTCACC	0.532000													6	34					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51875223	51875223	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:51875223G>A	ENST00000371733.3	-	14	1355	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	EPS15_ENST00000371730.2_Missense_Mutation_p.A420V|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.A97V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	420					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGCCTCCTCAGCACATTTCTT	0.473000			T	MLL	ALL								7	39					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41726098	41726098	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:41726098G>C	ENST00000352645.4	+	6	773	c.516G>C	c.(514-516)aaG>aaC	p.K172N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K172N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	172					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGGCGTATAAGAGGCCCCAGG	0.637000													4	12					0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175213658	175213658	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:175213658G>C	ENST00000342016.3	-	10	1012	c.920C>G	c.(919-921)tCt>tGt	p.S307C	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	307	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTTCTCTTCAGAATCACTGTT	0.368000													32	85					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11411726	11411726	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:11411726G>T	ENST00000304623.8	-	5	550	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L30I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L30I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L121I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	121					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						ACCAGCTCGAGACCTGTTGTA	0.378000													7	52					0.27861	0.279635	1	1	0
FAT1	2195	broad.mit.edu	37	4	187538246	187538246	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:187538246G>A	ENST00000441802.2	-	11	9197	c.8988C>T	c.(8986-8988)atC>atT	p.I2996I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2996	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTTGCCGTGATAGTAAGAA	0.403000										HNSCC(5;0.00058)			9	14					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083534	32083534	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:32083534G>C	ENST00000375201.4	-	18	2130	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	ATF6B_ENST00000375203.3_Silent_p.L698L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	698					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GATTGAGGTAGAGGGGCTGGT	0.617000													9	21					0	0	1	0	0
FAM174A	345757	broad.mit.edu	37	5	99871245	99871245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:99871245C>A	ENST00000312637.4	+	1	237	c.11C>A	c.(10-12)tCg>tAg	p.S4*		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	4						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATGAAGGCCTCGCAGTGCTGC	0.667000													26	17					2.65835e-16	2.96943e-16	1	1	0
NKAPL	222698	broad.mit.edu	37	6	28228298	28228298	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:28228298G>C	ENST00000343684.3	+	1	1201	c.1149G>C	c.(1147-1149)aaG>aaC	p.K383N		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	383										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGAAAGTAAGATTTTAGCCA	0.408000													17	79					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815496	95815496	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:95815496G>A	ENST00000295208.2	-	5	1196	c.734C>T	c.(733-735)tCa>tTa	p.S245L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S245L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S245L(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AATAAGGGATGAAATATGACC	0.458000													38	229					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909261	29909261	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:29909261C>T	ENST00000308713.5	-	2	651	c.124G>A	c.(124-126)Gag>Aag	p.E42K	SEZ6L2_ENST00000537485.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E42K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E42K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	42	O-glycosylated at one site.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGGGGTCTCACTTCCAGGC	0.627000													9	28					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110454292	110454292	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:110454292C>G	ENST00000260283.4	-	14	1869	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E72Q|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E503Q|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E493Q|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E503Q|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E493Q|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E506Q	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	529	Rho-GAP.				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)		AATTCGTTTTCTAGTTCTGGG	0.403000													4	25					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96374449	96374449	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:96374449C>T	ENST00000261208.3	-	17	1772	c.1404G>A	c.(1402-1404)gaG>gaA	p.E468E	HAL_ENST00000541929.1_Silent_p.E260E|HAL_ENST00000538703.1_Silent_p.E468E	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	468					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CGATTCTTCTCTCACTGATTG	0.517000													32	34					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37924782	37924782	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:37924782A>C	ENST00000199447.4	+	14	1547	c.1175A>C	c.(1174-1176)aAt>aCt	p.N392T	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.N392T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	392	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTGAGAGACAATGGCTTGCAA	0.378000													3	63					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28922244	28922244	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:28922244C>A	ENST00000358201.4	-	7	1642	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	RABEP2_ENST00000544477.1_Missense_Mutation_p.V281L|RABEP2_ENST00000357573.6_Missense_Mutation_p.V320L	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	352					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GCCTGGCTCACGGTCCCTTGC	0.657000													6	25					0.217242	0.218362	1	1	0
NUP205	23165	broad.mit.edu	37	7	135303259	135303259	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:135303259G>A	ENST00000285968.6	+	28	3897	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1291					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E1291*(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCAACTAGTAGAAATTATACT	0.428000													38	39					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665958	44665958	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:44665958C>T	ENST00000243964.3	+	6	644	c.546C>T	c.(544-546)ctC>ctT	p.L182L	SLC12A5_ENST00000372315.1_Silent_p.L182L|SLC12A5_ENST00000454036.2_Silent_p.L205L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	205					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGTGGGCCTCTGCTTCTACC	0.587000													12	26					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938691	132938691	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:132938691G>A	ENST00000275191.2	-	1	626	c.519C>T	c.(517-519)ttC>ttT	p.F173F	TAAR2_ENST00000537809.1_Silent_p.F173F|TAAR2_ENST00000367931.1_Silent_p.F218F	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	218						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAGGAGTGAAGAAACCTGCCA	0.433000													16	70					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	218994	218994	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:218994C>T	ENST00000403657.1	-	12	2696	c.501G>A	c.(499-501)ttG>ttA	p.L167L	SH3YL1_ENST00000403658.1_Silent_p.L167L|SH3YL1_ENST00000415006.2_Silent_p.L186L|SH3YL1_ENST00000356150.5_Silent_p.L282L|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403712.2_Silent_p.L263L|SH3YL1_ENST00000405430.1_Silent_p.L282L			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	282										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)		TGGGTTGATTCAAATTGCCTG	0.378000													8	37					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38856494	38856494	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:38856494C>T	ENST00000264651.2	-	4	1053	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	333	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AACCGCTCCTCAGCCTCTCGG	0.552000													119	75					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694670	111694670	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:111694670C>G	ENST00000435970.1	-	15	5470	c.4654G>C	c.(4654-4656)Gaa>Caa	p.E1552Q	REV3L_ENST00000368805.1_Missense_Mutation_p.E1630Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E1630Q|REV3L_ENST00000368802.3_Missense_Mutation_p.E1630Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1630					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACAACTTTCAAAGCCTGGA	0.323000								DNA polymerases (catalytic subunits)					45	31					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906641	30906641	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:30906641C>G	ENST00000251071.5	-	1	807	c.57G>C	c.(55-57)aaG>aaC	p.K19N	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K19N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.K19N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K19N|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	19					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCTTAAACTCTTTTCCACAG	0.438000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	25					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867306	7867306	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:7867306G>C	ENST00000264669.5	-	2	1027	c.891C>G	c.(889-891)agC>agG	p.S297R	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	297					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGCATTTGGCTAATCAATT	0.373000													16	84					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231988454	231988454	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:231988454C>T	ENST00000258400.3	-	2	537	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	9					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTTGAAGTTCAGACACTCTG	0.428000													12	24					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23299747	23299747	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:23299747C>T	ENST00000258733.4	+	5	985	c.690C>T	c.(688-690)taC>taT	p.Y230Y	GPNMB_ENST00000453162.2_Silent_p.Y172Y|GPNMB_ENST00000381990.2_Silent_p.Y230Y|GPNMB_ENST00000539136.1_Silent_p.Y131Y			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	230					negative regulation of cell proliferation	melanosome		p.Y230Y(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAGATGTGTACGTGGTAACAG	0.478000													10	68					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165475	51165475	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:51165475G>A	ENST00000293441.1	-	23	6251	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	SHANK1_ENST00000359082.3_Missense_Mutation_p.P2069L|SHANK1_ENST00000391814.1_Missense_Mutation_p.P2086L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1465L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2078					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGGCGGGTCGGTGAGAGGGA	0.682000													8	27					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567554	33567554	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:33567554G>A	ENST00000262873.7	+	5	507	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	97	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCACCTGAACGAGGCCTCTGT	0.637000													7	39					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24921678	24921678	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:24921678C>G	ENST00000347898.3	+	15	2324	c.1702C>G	c.(1702-1704)Caa>Gaa	p.Q568E	SLC5A11_ENST00000565769.1_Missense_Mutation_p.Q504E|SLC5A11_ENST00000568579.1_Missense_Mutation_p.Q498E|SLC5A11_ENST00000449109.2_Missense_Mutation_p.Q412E|SLC5A11_ENST00000545376.1_Missense_Mutation_p.Q498E|SLC5A11_ENST00000424767.2_Missense_Mutation_p.Q533E|SLC5A11_ENST00000539472.1_Missense_Mutation_p.Q504E|SLC5A11_ENST00000567758.1_Missense_Mutation_p.Q533E|SLC5A11_ENST00000569071.1_Missense_Mutation_p.Q412E	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	568					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)		CCAGAAGGAACAAGCACCACC	0.572000													9	52					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65219613	65219613	+	RNA	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:65219613G>C	ENST00000442266.1	+	0	282																											AATCATTGGAGAGCTGCTGAA	0.418000													96	54					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45561759	45561759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:45561759C>T	ENST00000415258.1	+	18	2404	c.2263C>T	c.(2263-2265)Cag>Tag	p.Q755*	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Nonsense_Mutation_p.Q712*|LARS2_ENST00000265537.3_Nonsense_Mutation_p.Q755*			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	755					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCAATTTCTCAGCTGATGGG	0.468000													7	94					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229230	39229230	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:39229230T>C	ENST00000340369.3	-	2	1935	c.1707A>G	c.(1705-1707)gaA>gaG	p.E569E	XIRP1_ENST00000396251.1_Silent_p.E569E|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	569	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTTCTGTCGTTCCTGCTGCT	0.607000													8	160					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810877	106810877	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:106810877C>G	ENST00000526355.2	-	4	983	c.515G>C	c.(514-516)aGa>aCa	p.R172T	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R172T|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R172T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCACCAAATCTTTTTTGAAT	0.338000													9	67					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57080545	57080545	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:57080545G>A	ENST00000436936.1	+	22	3555	c.3330G>A	c.(3328-3330)agG>agA	p.R1110R	NLRC5_ENST00000262510.6_Silent_p.R1110R|NLRC5_ENST00000308149.7_Silent_p.R1110R|NLRC5_ENST00000539144.1_Silent_p.R1110R			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1110					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCATCCCCAGGAGCCTCTGGT	0.582000													8	21					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30090752	30090752	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:30090752G>A	ENST00000338641.4	+	16	2190	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q	NF2_ENST00000413209.2_Silent_p.Q153Q|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000397789.3_3'UTR|NF2_ENST00000361676.4_3'UTR|NF2_ENST00000353887.4_3'UTR|NF2_ENST00000361166.4_3'UTR|NF2_ENST00000361452.4_3'UTR	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	583					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TCACCTTGCAGAGCGCCAAGT	0.592000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				4	15					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49484981	49484981	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:49484981G>T	ENST00000266991.2	-	2	801	c.495C>A	c.(493-495)ctC>ctA	p.L165L	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	165					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CTTCCACTGCGAGGCGCGCCA	0.597000													32	36					1.62565e-12	1.79241e-12	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36766540	36766540	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:36766540C>T	ENST00000354618.5	+	10	2581	c.2357C>T	c.(2356-2358)tCa>tTa	p.S786L	THRAP3_ENST00000469141.2_Missense_Mutation_p.S786L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	786					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCCCAGTCATCTCACTCC	0.493000			T	USP6	aneurysmal bone cysts								11	18					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091856	34091856	+	Missense_Mutation	SNP	G	G	A	rs147660483		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:34091856G>A	ENST00000397527.1	+	30	6379	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1831K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1887	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCCCTGGAGGAGGTGCTGGG	0.617000													12	13					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156751055	156751055	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:156751055G>C	ENST00000537611.2	-	10	1517	c.1471C>G	c.(1471-1473)Cca>Gca	p.P491A		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	491						integral to membrane|plasma membrane											TTCTGAGGTGGAGGAGTCCAC	0.333000													13	61					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62704011	62704011	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:62704011G>C	ENST00000371153.4	-	10	3304	c.2926C>G	c.(2926-2928)Cat>Gat	p.H976D	KANK4_ENST00000371150.1_Missense_Mutation_p.H332D|KANK4_ENST00000317477.4_Missense_Mutation_p.H114D|KANK4_ENST00000354381.3_Missense_Mutation_p.H348D	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	976										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATTTCCATATGGGTGGGTGAC	0.557000													8	29					0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1584575	1584575	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:1584575C>G	ENST00000590550.2	-	2	577	c.204G>C	c.(202-204)aaG>aaC	p.K68N	MBD3_ENST00000434436.3_Missense_Mutation_p.K124N|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.K124N|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Missense_Mutation_p.K92N			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	124	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	p.K124N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGTCGCTCTTGACCTTGT	0.652000													9	39					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36492815	36492815	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:36492815G>C	ENST00000373191.4	+	12	1856	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	AGO3_ENST00000246314.6_Missense_Mutation_p.E269Q	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AGACAGCGTAGAGCCCATGTT	0.512000													7	30					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202272447	202272447	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:202272447C>T	ENST00000367278.3	+	10	1059	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	LGR6_ENST00000255432.7_Missense_Mutation_p.L272F|LGR6_ENST00000439764.2_Missense_Mutation_p.L185F|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	324						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTTTCCAGATCTCAAAGGCAC	0.527000													11	25					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999111	8999111	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:8999111A>C	ENST00000344836.4	-	14	1704	c.1506T>G	c.(1504-1506)gaT>gaG	p.D502E	USP7_ENST00000535863.1_Missense_Mutation_p.D403E|USP7_ENST00000381886.4_Missense_Mutation_p.D486E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	502					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						ACAGGTCGTCATCGTGACCCC	0.428000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	63					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2155380	2155380	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2155380C>T	ENST00000262304.4	-	21	8167	c.7959G>A	c.(7957-7959)ctG>ctA	p.L2653L	PKD1_ENST00000423118.1_Silent_p.L2653L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2653	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTGGACCCTCAGGGACACCA	0.657000													33	57					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99924699	99924699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:99924699G>A	ENST00000331768.5	-	6	751	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	SETD3_ENST00000329331.3_Nonsense_Mutation_p.Q198*|SETD3_ENST00000436070.2_Nonsense_Mutation_p.Q198*|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	198	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TGTGTGGACTGAAGATACCGA	0.463000													60	10					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398747	90398747	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:90398747C>A	ENST00000337338.5	+	3	527	c.120C>A	c.(118-120)atC>atA	p.I40I	RP11-302M6.4_ENST00000370453.5_3'UTR|LRRC8D_ENST00000394593.3_Silent_p.I40I	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	40						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGGTAGCCATCTTTGCAGGAA	0.433000													34	44					1.99505e-19	2.23767e-19	1	1	0
MC1R	4157	broad.mit.edu	37	16	89986131	89986131	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:89986131C>T	ENST00000555427.1	+	3	2768	c.465C>T	c.(463-465)atC>atT	p.I155I	TUBB3_ENST00000556922.1_Silent_p.I155I|MC1R_ENST00000555147.1_Silent_p.I155I					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)									p.I155M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACCACAGCATCGTGACCCTGC	0.647000									Melanoma, Familial Clustering of				11	13					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4409655	4409655	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:4409655C>T	ENST00000254436.7	-	4	722	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TRIM21_ENST00000543625.1_Missense_Mutation_p.E204K	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	204					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGCTCCCTCTCATCCTTCTCC	0.532000													23	105					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436386	85436386	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:85436386G>C	ENST00000359152.5	-	1	2685	c.2686C>G	c.(2686-2688)Ctt>Gtt	p.L896V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L372V|SYTL2_ENST00000525423.1_Missense_Mutation_p.L372V|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGGGAACAAGATGAGCATCC	0.483000													10	117					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80976547	80976547	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:80976547C>T	ENST00000403729.2	-	5	978	c.453G>A	c.(451-453)ttG>ttA	p.L151L	ANTXR2_ENST00000307333.7_Silent_p.L151L|ANTXR2_ENST00000295465.4_Silent_p.L151L|ANTXR2_ENST00000404191.1_Silent_p.L74L|ANTXR2_ENST00000346652.6_Silent_p.L151L	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	151	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CCAGACCGTCCAACTTGCCAT	0.433000									Juvenile Hyaline Fibromatosis				12	13					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517910	85517910	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:85517910T>C	ENST00000393217.2	+	17	3681	c.3620T>C	c.(3619-3621)cTt>cCt	p.L1207P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1207										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)		TTGATGATACTTAGTACTGAA	0.348000													6	48					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47424488	47424488	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:47424488T>C	ENST00000377045.4	+	5	602	c.408T>C	c.(406-408)tgT>tgC	p.C136C	ARAF_ENST00000290277.6_Silent_p.C136C|ARAF_ENST00000377039.2_Silent_p.C136C	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	136					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.C136C(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACCAGCATTGTTCCTCCAAGG	0.572000													6	20					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537089	48537089	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:48537089G>C	ENST00000396577.3	+	11	1655	c.1440G>C	c.(1438-1440)atG>atC	p.M480I	SLC12A1_ENST00000558405.1_Missense_Mutation_p.M480I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.M480I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	480					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACGGGCTGATGAACAATTTCC	0.388000													4	23					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74561553	74561553	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:74561553A>G	ENST00000253159.8	+	2	319	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	ZNF236_ENST00000320610.9_Missense_Mutation_p.I43V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	41					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAAATGTGAAATCTGTCTACT	0.353000													13	18					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46404903	46404903	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:46404903C>T	ENST00000322217.5	-	2	215	c.129G>A	c.(127-129)caG>caA	p.Q43Q		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	43	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						CCCGACGGCTCTGCGCGCCGT	0.672000											OREG0032108	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	5	11					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14673366	14673366	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:14673366G>A	ENST00000436007.2	+	3	214	c.90G>A	c.(88-90)gaG>gaA	p.E30E	TECR_ENST00000596164.1_3'UTR|TECR_ENST00000215567.5_Silent_p.E15E|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	15					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						AGACAAGGGAGAAGCTGTGTT	0.582000													20	22					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113756833	113756833	+	Silent	SNP	G	G	C	rs149269837	by1000genomes	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:113756833G>C	ENST00000552014.1	-	9	1253	c.738C>G	c.(736-738)ctC>ctG	p.L246L	SLC8B1_ENST00000202831.3_Silent_p.L246L|SLC8B1_ENST00000546737.1_Silent_p.L190L|SLC8B1_ENST00000553238.1_5'UTR					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	246																	TCCAGGTGCAGAGAATCACAG	0.557000													14	39					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986506	89986506	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:89986506C>A	ENST00000555427.1	+	3	3143	c.840C>A	c.(838-840)ttC>ttA	p.F280L	TUBB3_ENST00000556922.1_Missense_Mutation_p.F280L|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Missense_Mutation_p.F280L					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCAAGAACTTCAACCTCTTTC	0.582000									Melanoma, Familial Clustering of				9	9					9.70103e-10	1.05597e-09	1	1	0
SPATA32	124783	broad.mit.edu	37	17	43333177	43333177	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:43333177G>C	ENST00000543122.1	-	6	1090	c.309C>G	c.(307-309)ttC>ttG	p.F103L	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.F124L|MAP3K14-AS1_ENST00000588698.1_RNA					spermatogenesis associated 32																		TCCACGGTCTGAAGGTCTGTG	0.557000													16	82					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165550885	165550885	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:165550885G>A	ENST00000375458.2	-	11	3238	c.3017C>T	c.(3016-3018)tCa>tTa	p.S1006L	COBLL1_ENST00000392717.2_Missense_Mutation_p.S1082L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S1111L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S1044L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S1044L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1082										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGCACTAGGTGACTCGGTGCG	0.488000													29	22					0	0	1	0	0
SMDT1	91689	broad.mit.edu	37	22	42475829	42475829	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:42475829C>T	ENST00000331479.3	+	1	131	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		CCGGGGCTCTCCGGAGCGGGC	0.701000													11	17					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862207	21862207	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:21862207G>T	ENST00000399982.2	-	31	5811	c.5747C>A	c.(5746-5748)cCt>cAt	p.P1916H	CHD8_ENST00000557364.1_Missense_Mutation_p.P1916H|CHD8_ENST00000430710.3_Missense_Mutation_p.P1637H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1916					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCAGGACCAGGAGGCTGACA	0.557000													17	20					1.45105e-14	1.61162e-14	1	1	0
OAS2	4939	broad.mit.edu	37	12	113416552	113416552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:113416552G>T	ENST00000392583.2	+	1	346	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	OAS2_ENST00000449768.2_Nonsense_Mutation_p.E47*|OAS2_ENST00000342315.4_Nonsense_Mutation_p.E47*|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	47	OAS domain 1.			LQE -> CRN (in Ref. 1; AAA60607/ AAA60606).	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTCCTGCAGGAACCCGAACA	0.572000													13	13					7.93312e-07	8.42046e-07	1	1	0
WDPCP	51057	broad.mit.edu	37	2	63401847	63401847	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:63401847C>T	ENST00000409120.1	-	9	5010	c.1460G>A	c.(1459-1461)aGa>aAa	p.R487K	WDPCP_ENST00000272321.7_Missense_Mutation_p.R679K|WDPCP_ENST00000398544.3_Missense_Mutation_p.R520K|WDPCP_ENST00000409199.1_Missense_Mutation_p.R487K			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	679					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TAAAATATGTCTGTGGGTTGG	0.393000													16	51					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252977	50252977	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:50252977C>T	ENST00000420502.1	+	0	528							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CTCCTGCAGGCATCCGTGCCT	0.622000													19	11					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33457303	33457303	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:33457303G>C	ENST00000305768.5	-	2	197	c.109C>G	c.(109-111)Cct>Gct	p.P37A	CEP89_ENST00000590597.2_Missense_Mutation_p.P37A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTGCGGGGAGGAGGTGTGCGT	0.557000													5	18					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718051	73718051	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:73718051C>G	ENST00000264448.6	+	10	9073	c.8962C>G	c.(8962-8964)Caa>Gaa	p.Q2988E	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q2946E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2988					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCCCTTCCTCAAGGTCAGGA	0.398000													35	101					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	968012	968012	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:968012C>G	ENST00000382276.3	+	5	1144	c.995C>G	c.(994-996)tCt>tGt	p.S332C	DMRT1_ENST00000569227.1_Missense_Mutation_p.S174C	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	332	Pro/Ser-rich.				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGTCAAGATTCTGGCTTGGTT	0.502000													36	7					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9771204	9771204	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:9771204G>A	ENST00000383832.3	+	21	1680	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	497	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTCCCATTCCGAGACTATGTT	0.587000													6	70					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860844	52860844	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:52860844C>G	ENST00000343457.3	-	4	2350	c.2344G>C	c.(2344-2346)Gac>Cac	p.D782H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	782						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGCCAGAGTCTGGAGCAGAA	0.473000													4	32					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063339	170063339	+	Missense_Mutation	SNP	C	C	A	rs143893803		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:170063339C>A	ENST00000263816.3	-	39	7176	c.6891G>T	c.(6889-6891)ttG>ttT	p.L2297F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2297					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGATCTTTTTCAAATTCCTAT	0.413000													10	46					2.17888e-05	2.27731e-05	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47560283	47560283	+	Silent	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:47560283T>A	ENST00000273859.3	+	12	2696	c.2427T>A	c.(2425-2427)gcT>gcA	p.A809A	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	809					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTCGGTGGCTTCCCCAGGTA	0.408000													10	133					0	0	1	0	0
CREM	1390	broad.mit.edu	37	10	35468252	35468252	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:35468252C>G	ENST00000374726.3	+	4	684	c.409C>G	c.(409-411)Ctc>Gtc	p.L137V	CREM_ENST00000374734.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000489321.1_Missense_Mutation_p.L137V|CREM_ENST00000463960.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000479070.1_Intron	NM_001881.3	NP_001872.3	Q03060	CREM_HUMAN	cAMP responsive element modulator	0	KID.				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TTTAAGTCTTCTCTAGTTATA	0.348000													31	32					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451912	29451912	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:29451912C>T	ENST00000389048.3	-	16	3559	c.2653G>A	c.(2653-2655)Gat>Aat	p.D885N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	885	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAAGTGTTATCATTCCAGCCA	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	12					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116392	44116392	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:44116392C>T	ENST00000262419.6	-	9	2863		c.e9+1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Intron	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										CCTGGCCCTACCTTCACTTCT	0.557000													44	28					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56603026	56603026	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:56603026G>T	ENST00000407595.2	+	5	2030	c.1528G>T	c.(1528-1530)Gcc>Tcc	p.A510S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	510										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGTGGACATGCCACACCTTC	0.468000													6	22					3.09899e-07	3.30478e-07	1	1	0
GCKR	2646	broad.mit.edu	37	2	27730127	27730127	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:27730127C>A	ENST00000264717.2	+	13	1155	c.1092C>A	c.(1090-1092)ctC>ctA	p.L364L	GCKR_ENST00000424318.2_Silent_p.L174L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	364	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTGGCTTTCTCATTGGTGATC	0.498000													82	207					3.56499e-28	4.01834e-28	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926130	67926130	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:67926130C>G	ENST00000304363.4	-	11	2036	c.1683G>C	c.(1681-1683)ttG>ttC	p.L561F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TATAGCCATTCAACGTATTTG	0.537000													30	84					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39813725	39813725	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:39813725C>G	ENST00000216160.6	+	5	483	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	TAB1_ENST00000331454.3_Missense_Mutation_p.Q141E	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	141	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK 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	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGGAGTCCCTCAGCACCAGCT	0.517000													12	37					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340409	104340409	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:104340409C>G	ENST00000299767.5	+	15	2223	c.2041C>G	c.(2041-2043)Cag>Gag	p.Q681E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	681					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTATGCGAGTCAGAAGAAAAC	0.338000													10	55					0	0	1	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033030	100033030	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:100033030C>T	ENST00000292330.2	-	4	905	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	239																	AAGGTGTCCTCTGAAGGGCGG	0.532000													21	22					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903002	129903002	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129903002C>G	ENST00000368654.3	-	13	7477	c.7102G>C	c.(7102-7104)Gac>Cac	p.D2368H	MKI67_ENST00000368653.3_Missense_Mutation_p.D2008H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2368	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)				TCCTCTACGTCTGCTTTCCTG	0.463000													73	207					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168067398	168067398	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:168067398C>G	ENST00000409195.1	+	4	805	c.716C>G	c.(715-717)tCt>tGt	p.S239C	XIRP2_ENST00000409273.1_Missense_Mutation_p.S17C|XIRP2_ENST00000409605.1_Missense_Mutation_p.S17C|XIRP2_ENST00000420519.1_Missense_Mutation_p.S272C|XIRP2_ENST00000409728.1_Missense_Mutation_p.S272C|XIRP2_ENST00000409756.2_Missense_Mutation_p.S239C|XIRP2_ENST00000295237.9_Missense_Mutation_p.S239C|XIRP2_ENST00000409043.1_Missense_Mutation_p.S239C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	64					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGCAGCTTCTCTGCTAATGTA	0.517000													7	30					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32975402	32975402	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:32975402G>C	ENST00000399302.2	+	5	4125		c.e5-1		QSER1_ENST00000527788.1_Splice_Site	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTGTTTCAGAAGCCCTACA	0.373000													13	93					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670229	6670229	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:6670229C>T	ENST00000541778.1	-	12	1691	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	NOP2_ENST00000382421.3_Silent_p.L438L|NOP2_ENST00000322166.5_Silent_p.L405L|NOP2_ENST00000399466.2_Silent_p.L401L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Silent_p.L405L|NOP2_ENST00000545200.1_Silent_p.L401L			P46087	NOP2_HUMAN	NOP2 nucleolar protein	405					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TGTTCTTCATCAGCTGGGCTA	0.537000													5	13					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816954	77816954	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:77816954C>T	ENST00000334306.2	-	1	2048	c.2049G>A	c.(2047-2049)caG>caA	p.Q683Q		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	683																	TGATGACCCCCTGGTGGCCGT	0.517000													91	100					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58361437	58361437	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:58361437C>G	ENST00000339656.5	+	1	213	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	ZNF587_ENST00000423137.1_Missense_Mutation_p.Q11E|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF814_ENST00000597652.1_5'UTR|ZNF587B_ENST00000316462.4_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GCGCCCAACTCAGGTAATTGT	0.667000													8	36					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043383	117043383	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:117043383G>T	ENST00000371876.1	-	4	3515	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	KLHL13_ENST00000541812.1_Missense_Mutation_p.P400H|KLHL13_ENST00000539496.1_Missense_Mutation_p.P419H|KLHL13_ENST00000540167.1_Missense_Mutation_p.P400H|KLHL13_ENST00000545703.1_Missense_Mutation_p.P374H|KLHL13_ENST00000262820.3_Missense_Mutation_p.P416H|KLHL13_ENST00000469946.1_Missense_Mutation_p.P365H|KLHL13_ENST00000371882.1_Missense_Mutation_p.P365H|KLHL13_ENST00000371878.1_Missense_Mutation_p.P365H			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	416					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATTGTATCGAGGATCAAATCT	0.423000													19	11					1.40151e-16	1.5668e-16	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105845073	105845073	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:105845073G>A	ENST00000393127.2	+	16	2892	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	GRIA4_ENST00000530497.1_Missense_Mutation_p.G816S|GRIA4_ENST00000525187.1_Missense_Mutation_p.G816S|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Missense_Mutation_p.G816S	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	816					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CAATGTAGCAGGCGTCTTCTA	0.483000													10	78					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13074192	13074192	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:13074192C>G	ENST00000399002.2	+	6	1068	c.794C>G	c.(793-795)tCa>tGa	p.S265*	SPTLC3_ENST00000378194.4_Nonsense_Mutation_p.S265*	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	265					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCCCGACTCTCAGGTGCAACC	0.403000													9	38					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568945	102568945	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:102568945G>C	ENST00000370296.2	+	8	1490	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	PAX2_ENST00000355243.3_Missense_Mutation_p.E291Q|PAX2_ENST00000428433.1_Missense_Mutation_p.E314Q|PAX2_ENST00000556085.1_Missense_Mutation_p.E290Q|PAX2_ENST00000361791.3_Missense_Mutation_p.E291Q			Q02962	PAX2_HUMAN	paired box 2	314					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CACCAACCCTGAGCTGGGCAG	0.592000													11	37					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794399	109794399	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:109794399T>C	ENST00000271332.3	+	1	1759	c.1698T>C	c.(1696-1698)gcT>gcC	p.A566A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	566	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGTGGCTGCTGAACTGGACC	0.572000													8	34					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457825	3457825	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:3457825C>T	ENST00000472042.1	+	2	1630	c.646C>T	c.(646-648)Cct>Tct	p.P216S	TGIF1_ENST00000548489.2_Missense_Mutation_p.P250S|TGIF1_ENST00000407501.2_Missense_Mutation_p.P236S|TGIF1_ENST00000400167.2_Missense_Mutation_p.P216S|TGIF1_ENST00000405385.3_Missense_Mutation_p.P216S|TGIF1_ENST00000330513.5_Missense_Mutation_p.P365S|TGIF1_ENST00000345133.5_Missense_Mutation_p.P216S|TGIF1_ENST00000343820.5_Missense_Mutation_p.P236S|TGIF1_ENST00000401449.1_Missense_Mutation_p.P216S|TGIF1_ENST00000551541.1_Missense_Mutation_p.P216S			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	365					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TTTCAACACTCCTCCCCCTAC	0.498000													11	75					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814064	55814064	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:55814064G>C	ENST00000309383.1	+	10	1134		c.e10-1		BRSK1_ENST00000326848.7_Splice_Site|BRSK1_ENST00000585418.1_Splice_Site|BRSK1_ENST00000590333.1_Splice_Site	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1						establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CACTTCCCCAGAGGCGGGAAA	0.607000													30	77					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395122	139395122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:139395122G>C	ENST00000277541.6	-	31	5891	c.5816C>G	c.(5815-5817)tCa>tGa	p.S1939*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1939					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATCAGAGCGTGAGTAGCGGGC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	84					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	40					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011296	61011296	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:61011296G>C	ENST00000435852.2	-	13	1720	c.1673C>G	c.(1672-1674)cCt>cGt	p.P558R	FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000373868.2_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAATTCTCTAGGAAGTATTAG	0.353000													23	59					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1529000	1529000	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:1529000G>T	ENST00000389470.4	-	19	2681	c.2682C>A	c.(2680-2682)ctC>ctA	p.L894L	INTS1_ENST00000404767.3_Silent_p.L766L			Q8N201	INT1_HUMAN	integrator complex subunit 1	766					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCATCTCCATGAGCATCTTCA	0.687000													5	10					1	1	1	1	0
C6orf89	221477	broad.mit.edu	37	6	36882384	36882384	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:36882384G>C	ENST00000480824.2	+	6	904	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	C6orf89_ENST00000355190.3_Missense_Mutation_p.E211Q|C6orf89_ENST00000373685.1_Missense_Mutation_p.E204Q|C6orf89_ENST00000510325.2_Missense_Mutation_p.E98Q|C6orf89_ENST00000359359.2_Missense_Mutation_p.E98Q			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	204						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCAGTACCCTGAGGCGACAGA	0.498000													25	80					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076677	87076677	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:87076677G>T	ENST00000276616.2	-	2	443	c.369C>A	c.(367-369)ctC>ctA	p.L123L	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	123	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGATCTCCATGAGCTGGACAA	0.507000													11	62					3.07112e-06	3.23213e-06	1	1	0
SLAIN1	122060	broad.mit.edu	37	13	78320913	78320913	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:78320913C>T	ENST00000466548.1	+	5	1141	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	SLAIN1_ENST00000351546.3_Missense_Mutation_p.S109L|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S153L|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S109L|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S153L|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S230L	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	372										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TATTTTCCTTCAAATAATTAC	0.448000													9	13					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290038	129290038	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:129290038C>T	ENST00000393239.1	-	18	3623	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1149K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1149	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACAGCCACCTCGTCTGCGTAG	0.647000													49	17					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5095983	5095983	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:5095983C>T	ENST00000379160.3	-	7	974	c.732G>A	c.(730-732)atG>atA	p.M244I	PCNA_ENST00000379143.5_Missense_Mutation_p.M244I	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	244					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TTAAGTGTCCCATATCCGCAA	0.348000								DNA polymerases (catalytic subunits)					14	57					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601563	86601563	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:86601563G>A	ENST00000320354.4	+	1	707	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	208					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAAGGAGGCCGAGAAGAAGGT	0.731000									Late-onset Hereditary Lymphedema				3	6					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814304	2814304	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2814304G>C	ENST00000301740.8	+	11	4324	c.3775G>C	c.(3775-3777)Gaa>Caa	p.E1259Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1259	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTTGTCTTCAGAACTTAAAGA	0.438000													18	217					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967152	23967152	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:23967152C>T	ENST00000335694.4	-	2	301	c.97G>A	c.(97-99)Gat>Aat	p.D33N	GGTLC1_ENST00000278765.4_Missense_Mutation_p.D33N|GGTLC1_ENST00000286890.4_Missense_Mutation_p.D33N	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	33							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCCCCGTCATCCGGCATGTAG	0.622000													7	40					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603419	10603419	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:10603419G>A	ENST00000334534.5	+	8	799	c.619G>A	c.(619-621)Gat>Aat	p.D207N		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GAGGAGGAATGATGGTCAGGC	0.493000													24	18					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140800	58140800	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:58140800G>C	ENST00000547992.1	+	3	324		c.e3-1		TSPAN31_ENST00000547472.1_Splice_Site|TSPAN31_ENST00000553221.1_Splice_Site|TSPAN31_ENST00000257910.3_Splice_Site			Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTTATCCTCAGATCTGCAAGA	0.438000													20	19					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107836314	107836314	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:107836314C>T	ENST00000379028.3	-	15	1824	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	NRCAM_ENST00000351718.4_Missense_Mutation_p.E446K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E433K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E433K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E452K|NRCAM_ENST00000425651.2_Missense_Mutation_p.E452K			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	452					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGTGGTGGCTCAGCTACAAAT	0.368000													5	13					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160209130	160209130	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:160209130C>A	ENST00000321394.7	-	2	390	c.110G>T	c.(109-111)gGt>gTt	p.G37V	TCP1_ENST00000420894.2_Missense_Mutation_p.G37V|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	37					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCCAACTGGACCAAGAGAACT	0.343000													11	58					2.68362e-12	2.95653e-12	1	1	0
IMPDH2	3615	broad.mit.edu	37	3	49063771	49063771	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:49063771C>G	ENST00000326739.4	-	9	1031	c.992G>C	c.(991-993)tGc>tCc	p.C331S		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	331	IMP binding.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CTGCGTAATGCAGATGGAGCC	0.527000													4	4					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156751110	156751110	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:156751110G>C	ENST00000537611.2	-	10	1462	c.1416C>G	c.(1414-1416)taC>taG	p.Y472*		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	472						integral to membrane|plasma membrane											TGCATATCCAGTAGAAATTGG	0.388000													15	48					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345445	224345445	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:224345445G>C	ENST00000366862.5	+	5	1147	c.1104G>C	c.(1102-1104)aaG>aaC	p.K368N	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	368										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGAATAGAAAGTAAATTGGAA	0.458000													6	26					0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646052	228646052	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:228646052C>T	ENST00000369160.2	+	1	245	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	74					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				TCGAGCGCATCGCCAGCGAGG	0.632000													13	54					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53409502	53409502	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:53409502G>A	ENST00000322213.4	-	21	3337	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1070					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACAAGCATTGAAGCGGTCAA	0.512000													8	10					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879599	27879599	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:27879599G>A	ENST00000303324.2	-	1	575	c.499C>T	c.(499-501)Cca>Tca	p.P167S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCACACAGTGGCATCTTAAGT	0.463000													15	183					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745891	17745891	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:17745891C>G	ENST00000380060.3	+	6	3940	c.3602C>G	c.(3601-3603)aCt>aGt	p.T1201S	NHS_ENST00000398097.3_Missense_Mutation_p.T1045S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1201						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAAAACTCTACTTTTGATGTG	0.403000													22	74					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116953542	116953542	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:116953542C>G	ENST00000229554.5	+	6	2226	c.2089C>G	c.(2089-2091)Cta>Gta	p.L697V	RSPH4A_ENST00000368581.4_3'UTR|RSPH4A_ENST00000368580.4_Missense_Mutation_p.L450V	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	697					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGCAGTTCTACTCGCAGC	0.413000									Kartagener syndrome				5	18					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104758397	104758397	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:104758397G>A	ENST00000357311.3	-	15	2126	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L	SRPK2_ENST00000393651.3_Missense_Mutation_p.P663L|SRPK2_ENST00000489828.1_Missense_Mutation_p.P652L	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	652	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATCTTCATGGGGCCAGCCATA	0.498000													7	26					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463769	130463769	+	Silent	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:130463769T>A	ENST00000356763.3	-	2	851	c.294A>T	c.(292-294)gcA>gcT	p.A98A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	98	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGAGCATAGCTGCTTTCTCAG	0.428000													10	62					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002569	176002569	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:176002569C>G	ENST00000510636.1	+	10	1105	c.831C>G	c.(829-831)atC>atG	p.I277M	CDHR2_ENST00000506348.1_Missense_Mutation_p.I277M|CDHR2_ENST00000261944.5_Missense_Mutation_p.I277M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	277	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCCTGTGATCTACAGCATCT	0.647000													6	22					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234102460	234102460	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:234102460G>A	ENST00000359570.5	+	25	2413	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	INPP5D_ENST00000455936.2_Missense_Mutation_p.E569K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E569K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	817					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCTGCAGGCGAGGGCTGCAT	0.572000													13	27					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089240	1089240	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:1089240G>A	ENST00000264930.5	-	4	389	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	116					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCATGCGCGGAGCCTGCGAC	0.682000													22	24					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123789149	123789149	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:123789149G>C	ENST00000420886.2	-	28	3747	c.3748C>G	c.(3748-3750)Cta>Gta	p.L1250V	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1249V|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1250V|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1249V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1250							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCTTTTTTAGATCAGCATAA	0.318000													25	38					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32971371	32971371	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:32971371G>C	ENST00000342179.5	+	18	2112	c.1897G>C	c.(1897-1899)Gac>Cac	p.D633H	DPY19L3_ENST00000586987.1_Missense_Mutation_p.D633H|DPY19L3_ENST00000392250.2_Missense_Mutation_p.D633H	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	633						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTTCGGCACTGACTACGTAAT	0.537000													14	15					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599261	151599261	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:151599261G>C	ENST00000362032.5	+	3	1035	c.930G>C	c.(928-930)ctG>ctC	p.L310L	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGAATCAACTGAGACACAACT	0.428000													11	77					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77245226	77245226	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:77245226T>G	ENST00000376896.3	+	2	648	c.36T>G	c.(34-36)atT>atG	p.I12M	RORB_ENST00000396204.2_Missense_Mutation_p.I23M	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CATGCAAAATTTGTGGCGATA	0.438000													7	33					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	95947796	95947796	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:95947796C>G	ENST00000297954.4	+	1	585	c.585C>G	c.(583-585)ctC>ctG	p.L195L	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.L195L|WNK2_ENST00000395475.2_Silent_p.L181L|WNK2_ENST00000349097.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	195	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCGCTTCCTCAAGTTCGACA	0.667000													11	2					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087585	2087585	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2087585C>T	ENST00000424542.2	+	6	977	c.839C>T	c.(838-840)tCc>tTc	p.S280F	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.S169F|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.S174F|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.S280F	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	280					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						CTGCCTGGTTCCGACAAGGAC	0.582000													9	8					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956465	99956465	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:99956465C>T	ENST00000610247.1	+	16	2713	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.R73W|PILRB_ENST00000452089.1_Missense_Mutation_p.R73W|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.R73W			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta		Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCTGGAGACGGGGCCACTT	0.542000													14	66					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124671169	124671169	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:124671169C>G	ENST00000368894.1	+	2	140	c.19C>G	c.(19-21)Ctc>Gtc	p.L7V		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	7						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		GATGTTTGATCTCAGGACGAA	0.498000													85	71					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329259	23329259	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:23329259G>C	ENST00000597761.2	+	4	1612	c.1413G>C	c.(1411-1413)aaG>aaC	p.K471N		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CTACACATAAGATAATTCATT	0.373000													13	22					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20508167	20508167	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:20508167C>G	ENST00000361078.2	-	5	719	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	PUM2_ENST00000403432.1_Missense_Mutation_p.E233Q|PUM2_ENST00000338086.5_Missense_Mutation_p.E233Q|PUM2_ENST00000319801.5_Missense_Mutation_p.E233Q|PUM2_ENST00000536417.1_Missense_Mutation_p.E177Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	233	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAAGGATTCCAGACCAACT	0.433000													22	139					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204869	69204869	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:69204869G>A	ENST00000377938.2	+	3	272	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	70	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AATAACAACGGATGGGACTCC	0.373000													39	36					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40522377	40522377	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:40522377G>A	ENST00000324817.1	-	26	3602	c.3484C>T	c.(3484-3486)Cgt>Tgt	p.R1162C		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1162	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTAGTTTACGAGGTGGAGGC	0.453000													16	2					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352787	168352787	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:168352787G>A	ENST00000366806.2	+	30	4874	c.4732G>A	c.(4732-4734)Gaa>Aaa	p.E1578K	MLLT4_ENST00000351017.4_Missense_Mutation_p.E1585K|MLLT4_ENST00000447894.2_Missense_Mutation_p.E1578K|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1578K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1578K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1577K|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1561K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1578	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		gcagaaggacgaagatgacga	0.602000			T	MLL	AL								5	30					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981496	40981496	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:40981496G>C	ENST00000313164.9	+	18	2712	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	785	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTTTCCAGCTGAGAGCAGCAA	0.478000													6	10					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333544	70333544	+	Silent	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:70333544A>T	ENST00000373644.4	+	2	1658	c.1449A>T	c.(1447-1449)tcA>tcT	p.S483S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	483					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATCAAACTCAGAGAAAAATT	0.448000													15	27					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123805437	123805437	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:123805437G>C	ENST00000223642.1	-	3	295	c.266C>G	c.(265-267)cCa>cGa	p.P89R		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	89					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAATTGTTTTGGTTGTATCTG	0.289000													6	32					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792827	143792827	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:143792827G>A	ENST00000408949.2	+	1	687	c.627G>A	c.(625-627)ccG>ccA	p.P209P		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TAGTGGGGCCGCTCTGCCTGG	0.552000													39	73					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242234	18242234	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:18242234C>T	ENST00000377369.2	+	2	302	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S10F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S10F|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTCTCAGTATCCTGGGTGCCA	0.512000													8	57					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901642	159901642	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:159901642G>C	ENST00000368094.1	-	11	1519	c.1322C>G	c.(1321-1323)tCc>tGc	p.S441C	IGSF9_ENST00000361509.3_Missense_Mutation_p.S425C|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	441	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTTGGGCGGAGCAGGGGAT	0.607000													6	68					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234102591	234102591	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:234102591G>C	ENST00000359570.5	+	25	2544	c.2544G>C	c.(2542-2544)acG>acC	p.T848T	INPP5D_ENST00000455936.2_Silent_p.T612T|INPP5D_ENST00000450745.1_Silent_p.T612T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	860					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGGCAAGACGAGGGAGAAGC	0.597000													6	9					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183906098	183906098	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:183906098G>A	ENST00000429586.2	+	7	924	c.739G>A	c.(739-741)Gac>Aac	p.D247N	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.D241N	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	247	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGAGATGACACTCCTGC	0.592000													13	53					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103395196	103395196	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:103395196G>A	ENST00000299155.5	+	5	430	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	133					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGGACGCCGAGCGCGTGCC	0.692000													5	12					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	415485	415485	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:415485C>T	ENST00000280886.6	-	18	2167	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	DIP2C_ENST00000540204.1_Missense_Mutation_p.E15K|DIP2C_ENST00000381496.3_Missense_Mutation_p.E587K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	694						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)		GACAGCTTCTCTTCCGAGTCC	0.572000													13	59					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643604	91643604	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:91643604C>G	ENST00000359028.2	+	11	3835	c.3610C>G	c.(3610-3612)Caa>Gaa	p.Q1204E	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1192E|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1204E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1204					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGAAAACTTCAAAAGGCAGT	0.333000			T	BRAF	papillary thyroid								7	30					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27964264	27964264	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:27964264G>A	ENST00000256398.8	+	4	670	c.293G>A	c.(292-294)aGa>aAa	p.R98K	ELP3_ENST00000521015.1_Missense_Mutation_p.R84K|ELP3_ENST00000380353.4_Missense_Mutation_p.R6K|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_De_novo_Start_InFrame|ELP3_ENST00000524103.1_Missense_Mutation_p.R26K|ELP3_ENST00000542181.1_De_novo_Start_InFrame	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACCCCACAGATGTCCACAC	0.323000													21	71					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55912272	55912272	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:55912272C>T	ENST00000388975.3	-	4	431	c.315G>A	c.(313-315)ttG>ttA	p.L105L	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	105					cell cycle|cell division	septin complex	GTP binding|protein binding	p.L105F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTCAATTTCAACTGAACAT	0.313000													19	172					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888154	183888154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:183888154G>T	ENST00000313143.3	+	15	2010	c.1762G>T	c.(1762-1764)Gag>Tag	p.E588*	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Nonsense_Mutation_p.E571*	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	588					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCGGAGGAAGGAGAAGGACCC	0.726000													3	11					6.4e-05	6.63472e-05	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31092967	31092967	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:31092967C>T	ENST00000394979.2	+	1	5745	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	ZNF646_ENST00000300850.5_Silent_p.I1774I			O15015	ZN646_HUMAN	zinc finger protein 646	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCGCCGAATCAGCTTCGTGC	0.697000													17	20					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298072	107298072	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:107298072C>G	ENST00000374781.2	-	1	1065	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	341					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTTTTTTGTTCAGCAAATATT	0.368000													22	43					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614600	36614600	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:36614600C>T	ENST00000311485.3	-	2	1280	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	373					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GAGTGGAATCCCCTGGATCTT	0.363000									Familial Hemophagocytic Lymphohistiocytosis				15	115					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27462064	27462064	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:27462064C>G	ENST00000264705.4	+	32	5379	c.5217C>G	c.(5215-5217)atC>atG	p.I1739M	CAD_ENST00000403525.1_Missense_Mutation_p.I1676M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1739	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCGGCGCATCTTTCACCTGC	0.622000													3	48					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842566	150842566	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:150842566G>C	ENST00000370357.4	+	15	2328	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	695						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGGCAAGAGTTGTCTGA	0.517000													42	5					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8151210	8151210	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:8151210C>G	ENST00000600128.1	-	55	7169		c.e55-1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCATTGTCATCTGAGATGGGA	0.647000													41	27					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868513	97868513	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:97868513C>G	ENST00000437310.1	+	1	344	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATATCTCTCTCTGAATGCAAG	0.393000													46	137					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98349602	98349602	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:98349602G>T	ENST00000264972.5	+	6	932	c.717G>T	c.(715-717)ctG>ctT	p.L239L	ZAP70_ENST00000442208.1_Silent_p.L113L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	239	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGGAGTATCTGAAGCTGAAGG	0.657000													7	21					3.09899e-07	3.30478e-07	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84215205	84215205	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:84215205C>T	ENST00000567759.1	-	9	1281	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	TAF1C_ENST00000570117.1_Missense_Mutation_p.E35K|TAF1C_ENST00000566732.1_Missense_Mutation_p.E341K|TAF1C_ENST00000378541.4_Missense_Mutation_p.E367K|TAF1C_ENST00000341690.6_Missense_Mutation_p.E274K|TAF1C_ENST00000541676.1_Missense_Mutation_p.E274K	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	367					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TACCCATCCTCAGGGCTCCAC	0.642000													5	6					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44120512	44120512	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:44120512G>T	ENST00000420999.1	-	4	498	c.415C>A	c.(415-417)Ccg>Acg	p.P139T		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	139	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TCAGGAGGCGGAAGAGTAATC	0.413000													5	22					0.00116845	0.00119739	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179701663	179701663	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:179701663A>G	ENST00000420890.2	-	23	4400	c.4283T>C	c.(4282-4284)tTg>tCg	p.L1428S	CCDC141_ENST00000295723.5_Missense_Mutation_p.L853S|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	853							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCAACTTCCAAAGTCACTGG	0.443000													17	54					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810177	38810177	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:38810177C>G	ENST00000420274.1	+	8	891	c.657C>G	c.(655-657)ttC>ttG	p.F219L	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Missense_Mutation_p.F219L	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	219	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)			AACGTCGCTTCTTTGCACTTG	0.463000													9	23					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54511386	54511386	+	Silent	SNP	G	G	A	rs146983820		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:54511386G>A	ENST00000234831.5	-	3	618	c.369C>T	c.(367-369)ttC>ttT	p.F123F	TMEM59_ENST00000371337.3_Silent_p.F123F|TMEM59_ENST00000371348.1_5'UTR|TMEM59_ENST00000371341.1_5'UTR	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	123						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCAGTTCAGCGAATGGCAGCT	0.408000													16	67					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855891	89855891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:89855891G>T	ENST00000275072.4	+	1	123	c.28G>T	c.(28-30)Gaa>Taa	p.E10*		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	10							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GCGGCCCGTGGAAGGGGGCGC	0.756000													3	11					0.115264	0.116372	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46388149	46388149	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:46388149C>T	ENST00000540012.1	-	3	192	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	GABRA2_ENST00000356504.1_Silent_p.T43T|GABRA2_ENST00000507460.1_Silent_p.T43T|GABRA2_ENST00000381620.4_Silent_p.T43T|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000514090.1_Silent_p.T43T|GABRA2_ENST00000507069.1_Silent_p.T43T|GABRA2_ENST00000510861.1_Silent_p.T43T|GABRA2_ENST00000515082.1_Silent_p.T43T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	66				MQ -> IE (in Ref. 1; AAB27278).	gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAGAATTCTCGTAAAGATGG	0.348000													9	61					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803428	803428	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:803428G>A	ENST00000347755.5	-	3	596	c.455C>T	c.(454-456)gCg>gTg	p.A152V	PIDD_ENST00000411829.2_Missense_Mutation_p.A152V|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	152					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGCAAGAGCGCACCCAGACC	0.647000													12	44					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74057971	74057971	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:74057971G>C	ENST00000394070.2	+	2	491		c.e2-1		STAMBP_ENST00000394073.1_Splice_Site|STAMBP_ENST00000536064.1_Splice_Site|STAMBP_ENST00000339566.3_Splice_Site|STAMBP_ENST00000409707.1_Splice_Site	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein						JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TTCTGTCTCAGAACTTGGTCC	0.493000													12	26					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30944101	30944101	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:30944101C>G	ENST00000597505.1	-	22	3081	c.3082G>C	c.(3082-3084)Gaa>Caa	p.E1028Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E107Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGTCTGATTCTAGGTTCCTC	0.358000													26	37					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120940675	120940675	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:120940675G>C	ENST00000286234.5	+	2	288	c.158G>C	c.(157-159)aGa>aCa	p.R53T	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	53	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATTAAAGATAGACGTCATCAT	0.393000													13	80					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043751	71043751	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:71043751G>C	ENST00000272367.2	-	4	838	c.762C>G	c.(760-762)atC>atG	p.I254M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.I254M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	254					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						TCAAAACATAGATCTCAGCAT	0.428000													44	136					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100568	37100568	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:37100568G>C	ENST00000566621.1	+	11	1010	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	C15orf41_ENST00000437989.2_Missense_Mutation_p.E254Q|C15orf41_ENST00000569302.1_Missense_Mutation_p.E260Q|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000563167.1_Missense_Mutation_p.G16A|C15orf41_ENST00000338183.4_Missense_Mutation_p.E156Q|C15orf41_ENST00000562489.1_Missense_Mutation_p.E78Q|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000567389.1_Missense_Mutation_p.E156Q|C15orf41_ENST00000562877.1_Missense_Mutation_p.E156Q	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	254							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATTTATCCAGGAGCTGGACTG	0.463000													4	32					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007157	56007157	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:56007157G>T	ENST00000429591.2	+	4	789	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGAGTGTGGGAAGGCCTT	0.423000													5	55					0.184627	0.185716	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208269445	208269445	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:208269445C>G	ENST00000367033.3	-	8	2668	c.1911G>C	c.(1909-1911)ctG>ctC	p.L637L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	637					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTTGGACCTCAGCTGTAGCT	0.468000													63	53					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30472202	30472202	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:30472202G>C	ENST00000355904.4	-	4	571	c.289C>G	c.(289-291)Cta>Gta	p.L97V		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	97					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTAAGGTTAGAGGATGCGTA	0.343000													14	37					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675598	64675598	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:64675598G>C	ENST00000357395.3	+	102	18623	c.7479G>C	c.(7477-7479)caG>caC	p.Q2493H	SYNE2_ENST00000344113.4_Missense_Mutation_p.Q6108H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q2742H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2493H|SYNE2_ENST00000555022.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q6108H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q6070H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6108					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATCCAGCAGACCACCAGGA	0.557000													3	27					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44527645	44527645	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:44527645C>T	ENST00000542937.1	-	15	2011	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PLTP_ENST00000372420.1_Missense_Mutation_p.E385K|PLTP_ENST00000372431.3_Missense_Mutation_p.E473K|PLTP_ENST00000477313.1_Missense_Mutation_p.E473K|PLTP_ENST00000354050.4_Missense_Mutation_p.E421K|PLTP_ENST00000420868.2_Missense_Mutation_p.E378K			P55058	PLTP_HUMAN	phospholipid transfer protein	473					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGGTTCTTCTCAATCACCTCT	0.567000													10	32					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532106	84532106	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:84532106C>T	ENST00000527857.1	+	0	2128					NR_026851.1																						GAAAGAGGCTCATCCAGCGCA	0.488000													4	17					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124140747	124140747	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:124140747G>C	ENST00000287380.1	+	14	2201	c.2111G>C	c.(2110-2112)aGa>aCa	p.R704T	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R599T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R599T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R704T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R704T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R581T|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GATTACTTAAGAGAGAGGTAA	0.303000													14	32					0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424539	31424539	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:31424539G>A	ENST00000375571.5	+	4	506	c.367G>A	c.(367-369)Gac>Aac	p.D123N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	123					cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TGATGGAAAAGACTATGACCC	0.418000													32	35					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2447048	2447048	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:2447048G>C	ENST00000378466.3	-	10	1339	c.1327C>G	c.(1327-1329)Ctg>Gtg	p.L443V	PANK4_ENST00000435556.3_Missense_Mutation_p.L404V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	443					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTCGGGCCAGAGCGTCATCG	0.657000													3	32					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35862236	35862236	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:35862236C>G	ENST00000314607.6	+	19	3075	c.2995C>G	c.(2995-2997)Caa>Gaa	p.Q999E	ZMYM4_ENST00000373297.2_Missense_Mutation_p.Q910E	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	999					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTTTATACTCAATATGCTCC	0.393000													13	28					0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23433294	23433294	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:23433294G>A	ENST00000377009.3	-	1	188	c.155C>T	c.(154-156)aCc>aTc	p.T52I	CST11_ENST00000377007.3_Missense_Mutation_p.T52I	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	52					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATACTGGTCGGTGATCCACTG	0.498000													18	95					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848183	7848183	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:7848183G>A	ENST00000329913.3	-	1	189	c.142C>T	c.(142-144)Cct>Tct	p.P48S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	48					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGATATAAGGCACAGGTTGG	0.507000													7	29					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75556743	75556743	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:75556743C>A	ENST00000604729.1	+	16	3542	c.3245C>A	c.(3244-3246)aCt>aAt	p.T1082N	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T1077N|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T1044N|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T1077N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T1082N					zinc finger, SWIM-type containing 8																		CCAGGCCCCACTGAGGGCTTC	0.657000													7	22					8.12818e-05	8.40528e-05	1	1	0
PARD3	56288	broad.mit.edu	37	10	34558700	34558700	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:34558700C>T	ENST00000374789.3	-	22	3638	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K	PARD3_ENST00000346874.4_Missense_Mutation_p.E1068K|PARD3_ENST00000350537.4_Missense_Mutation_p.E1059K|PARD3_ENST00000374790.3_Missense_Mutation_p.E1045K|PARD3_ENST00000374794.3_Missense_Mutation_p.E993K|PARD3_ENST00000545693.1_Missense_Mutation_p.E1089K|PARD3_ENST00000545260.1_Missense_Mutation_p.E1015K|PARD3_ENST00000374788.3_Missense_Mutation_p.E1102K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1105					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATGGAACCTTCATAAGAAGAA	0.473000													24	45					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28337541	28337541	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:28337541C>G	ENST00000373871.3	-	10	1066	c.826G>C	c.(826-828)Gat>Cat	p.D276H	EYA3_ENST00000540618.1_Missense_Mutation_p.D230H|EYA3_ENST00000436342.2_Missense_Mutation_p.D150H|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.D223H|EYA3_ENST00000373863.3_Missense_Mutation_p.D230H|EYA3_ENST00000373864.1_Missense_Mutation_p.D119H	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	276					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGACTGATCATCAGTATCT	0.433000													27	27					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38825497	38825497	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:38825497G>C	ENST00000359357.3	+	40	5540	c.5286G>C	c.(5284-5286)caG>caC	p.Q1762H	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1979H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1762H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTGCATCAGAGAGATATTT	0.308000													16	13					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2227639	2227639	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:2227639C>G	ENST00000301364.5	-	15	3345	c.2266G>C	c.(2266-2268)Gat>Cat	p.D756H	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)						ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCTTCCCATCAAAGCTGCAT	0.403000													49	10					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69703975	69703975	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:69703975C>G	ENST00000349945.1	+	9	2735	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	NFAT5_ENST00000566899.1_Missense_Mutation_p.L395V|NFAT5_ENST00000567239.1_Missense_Mutation_p.L489V|NFAT5_ENST00000354436.2_Missense_Mutation_p.L471V|NFAT5_ENST00000432919.1_Missense_Mutation_p.L489V|NFAT5_ENST00000393742.2_Missense_Mutation_p.L395V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	471	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAAGAACTTTCTGAAAGGAAC	0.358000													21	29					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800633	185800633	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:185800633G>A	ENST00000302277.6	+	4	1104	c.510G>A	c.(508-510)ttG>ttA	p.L170L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	170						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATATACTTTGATTCATAGTG	0.338000													11	48					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59361172	59361172	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:59361172G>A	ENST00000263847.1	-	9	2062	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	528					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCATGGTGCGCAGCAGCAGG	0.453000													7	45					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108276153	108276153	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:108276153C>G	ENST00000295746.8	-	17	2198	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E549Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	708						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGAGATGCTCAATATCACTC	0.383000													14	34					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363620	49363620	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:49363620C>T	ENST00000263265.6	-	6	1018	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.E155K	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	155						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGTCCCCCTCCGCACGGGAG	0.667000													12	52					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173915918	173915918	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:173915918G>C	ENST00000367696.2	-	16	3145	c.2794C>G	c.(2794-2796)Caa>Gaa	p.Q932E	RC3H1_ENST00000258349.4_Missense_Mutation_p.Q932E|RC3H1_ENST00000367694.2_Missense_Mutation_p.Q932E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	932					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGTATGTTTTGATGAGGTGAA	0.363000													10	16					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44833957	44833957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:44833957G>A	ENST00000377967.4	+	4	422	c.381G>A	c.(379-381)tgG>tgA	p.W127*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W127*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W127*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W127*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	127					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(14)|p.0?(6)|p.?(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						CTGACTACTGGAAGGTTAGTG	0.318000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								15	49					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100467244	100467244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:100467244C>T	ENST00000240851.4	+	8	1412	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	TFG_ENST00000490574.1_Nonsense_Mutation_p.Q358*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q354*|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q354*|TFG_ENST00000481203.1_3'UTR	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	358					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGGGCCTATCAACCAAGACC	0.522000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								28	44					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57066493	57066493	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:57066493C>G	ENST00000301318.3	+	8	2410	c.2339C>G	c.(2338-2340)tCt>tGt	p.S780C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	780				Missing (in Ref. 4).	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)		AGAATCCATTCTGGAAAGAAA	0.388000													19	50					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342214	122342214	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:122342214G>A	ENST00000434824.1	-	1	807	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	197						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGGCAGCCAGGAAGGTAAATA	0.448000													13	80					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110756605	110756605	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:110756605C>T	ENST00000317735.4	+	3	415	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	127					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ACCTGACCATCTGCCTTCCTG	0.383000													43	7					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848579	79848579	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:79848579C>G	ENST00000331204.4	-	2	381	c.355G>C	c.(355-357)Gac>Cac	p.D119H	ALYREF_ENST00000505490.2_Missense_Mutation_p.D126H|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	119	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										ATATCGGCGTCTGAGACTCCA	0.587000													8	54					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136528229	136528229	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:136528229G>C	ENST00000272638.9	+	8	1057	c.746G>C	c.(745-747)aGa>aCa	p.R249T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	249					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTAACAAAAAGAATGCTGGAG	0.338000													5	16					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10684455	10684455	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:10684455G>C	ENST00000356607.4	+	7	626	c.546G>C	c.(544-546)caG>caC	p.Q182H	PEX14_ENST00000538836.1_Missense_Mutation_p.Q118H	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	182					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGCAGCAGAAGATCCAGG	0.617000													15	34					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220140	13220140	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:13220140G>A	ENST00000197268.8	+	7	1172	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	351						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCCAAAATCGAGACAGCTCA	0.458000													11	41					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55196373	55196373	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:55196373C>G	ENST00000337714.3	+	10	2838	c.2605C>G	c.(2605-2607)Ctg>Gtg	p.L869V	AKAP1_ENST00000572557.1_Missense_Mutation_p.L869V|AKAP1_ENST00000539273.1_Missense_Mutation_p.L869V|AKAP1_ENST00000571629.1_Missense_Mutation_p.L869V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	869					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGTCTTCCTCTGATTCAGCT	0.453000													71	140					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282701	37282701	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:37282701T>A	ENST00000373091.3	-	13	2067	c.2051A>T	c.(2050-2052)tAt>tTt	p.Y684F	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y684F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	684					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)	GACAGCCCCATACTCGATTTT	0.562000													7	27					0	0	1	0	0
CTAGE15	441294	broad.mit.edu	37	7	143270160	143270160	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:143270160C>G	ENST00000420911.2	+	1	1267	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C		NM_001008747.1	NP_001008747.1			CTAGE family, member 15																		GAGAAGCTTTCTAGAGTGGAA	0.373000													16	105					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415626	7415626	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:7415626G>A	ENST00000322644.6	+	26	4854	c.4455G>A	c.(4453-4455)gaG>gaA	p.E1485E		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1485					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGCATGGAGATCCCCACCA	0.642000													15	18					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156527465	156527465	+	RNA	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:156527465C>G	ENST00000472943.1	-	0	148					NR_038387.1																						GCCTTTAGCTCTGCATCCTGG	0.512000													11	45					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903606	129903606	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129903606C>T	ENST00000368654.3	-	13	6873	c.6498G>A	c.(6496-6498)caG>caA	p.Q2166Q	MKI67_ENST00000368653.3_Silent_p.Q1806Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2166	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)				GGTCCAGTTTCTGTTTTGCAG	0.507000													61	64					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	428430	428430	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:428430G>A	ENST00000432829.2	+	35	4519	c.4203G>A	c.(4201-4203)ctG>ctA	p.L1401L	DOCK8_ENST00000382329.1_Silent_p.L936L|DOCK8_ENST00000453981.1_Silent_p.L1469L|DOCK8_ENST00000469391.1_Silent_p.L1369L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1469	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAATTCTCTGAACTGTGATC	0.502000													43	11					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40911175	40911175	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:40911175C>G	ENST00000346991.5	+	10	809	c.419C>G	c.(418-420)tCt>tGt	p.S140C	CASC5_ENST00000527044.1_Intron|CASC5_ENST00000399668.2_Missense_Mutation_p.S114C			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	140	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACATTGCTTTCTGCTCCCATT	0.333000													34	53					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26686859	26686859	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:26686859G>C	ENST00000272371.2	-	40	5202	c.5076C>G	c.(5074-5076)ctC>ctG	p.L1692L	OTOF_ENST00000339598.3_Silent_p.L925L|OTOF_ENST00000402415.3_Silent_p.L1002L|OTOF_ENST00000403946.3_Silent_p.L1692L|OTOF_ENST00000338581.6_Silent_p.L925L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1692					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCGGGGTTGAGCAGCGGCC	0.637000													20	116					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063409	48063409	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:48063409G>A	ENST00000316364.5	+	19	3088	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.L864L|SEMA6D_ENST00000558014.1_Silent_p.L821L|SEMA6D_ENST00000354744.4_Silent_p.L827L|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.L883L|SEMA6D_ENST00000389428.3_Silent_p.L808L|SEMA6D_ENST00000389432.2_Silent_p.L840L|SEMA6D_ENST00000358066.4_Silent_p.L821L|SEMA6D_ENST00000537942.1_Silent_p.L821L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	883					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATCTCCTGAAGCATCTGA	0.453000													31	14					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807509	28807509	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:28807509C>G	ENST00000378993.1	+	2	722	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q17E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	17					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACTTTTACTCAGAGTTTGAA	0.368000													29	2					0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61018643	61018643	+	Missense_Mutation	SNP	G	G	C	rs148333894	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:61018643G>C	ENST00000312403.5	+	9	1242	c.1057G>C	c.(1057-1059)Gtc>Ctc	p.V353L	PGA5_ENST00000451616.2_Missense_Mutation_p.V199L|PGA4_ENST00000422676.2_Missense_Mutation_p.V353L|PGA5_ENST00000541528.1_Missense_Mutation_p.V93L	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	353			L -> V (in dbSNP:rs17595).		digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GGGCATGAACGTCCCCACCGA	0.577000													24	77					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374652	23374652	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:23374652C>G	ENST00000359890.3	-	7	661	c.466G>C	c.(466-468)Gat>Cat	p.D156H	RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.D140H|RBM23_ENST00000346528.5_Missense_Mutation_p.D122H|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	156					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CTCAGATTATCAACTGGCTCC	0.483000													17	40					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19582149	19582149	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:19582149G>A	ENST00000350657.5	-	18	1767	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.F553F	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	553						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTGGAGTCCTGAAGAAGTCCA	0.582000													12	1					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63085603	63085603	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:63085603G>C	ENST00000251157.5	-	13	1520	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S496C|DOCK7_ENST00000404627.2_Missense_Mutation_p.S496C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	496					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TAAGACAGAAGATGGCCTTCT	0.328000													21	37					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558567	140558567	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140558567G>T	ENST00000239444.2	+	1	1197	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		318	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTATGAAGTCAATATCGA	0.403000													34	143					6.00712e-18	6.73212e-18	1	1	0
GIT1	28964	broad.mit.edu	37	17	27905371	27905371	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:27905371C>T	ENST00000225394.3	-	9	1077	c.829G>A	c.(829-831)Gag>Aag	p.E277K	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.E277K|GIT1_ENST00000581348.1_Missense_Mutation_p.E286K|GIT1_ENST00000394869.3_Missense_Mutation_p.E286K	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	277	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCGAGTTCCTCAAAAAGCCGG	0.592000													25	63					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168143	64168143	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:64168143G>C	ENST00000395391.1	+	4	2836	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N	ZNF107_ENST00000344930.3_Missense_Mutation_p.K487N|ZNF107_ENST00000423627.1_Missense_Mutation_p.K487N			Q9UII5	ZN107_HUMAN	zinc finger protein 107	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTAAACATAAGAGAATTCATA	0.333000													21	79					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139536	90139536	+	RNA	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:90139536G>A	ENST00000492446.1	+	0	334																											CCTGCAGCCTGAAGATTTTGC	0.493000													12	190					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94538029	94538029	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:94538029G>C	ENST00000375708.3	-	2	367	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	57	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCTTTCAGAGTTGGAATC	0.552000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	7					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477548	74477548	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:74477548G>C	ENST00000394019.2	-	17	1972	c.1575C>G	c.(1573-1575)atC>atG	p.I525M	SLC4A5_ENST00000358683.4_Missense_Mutation_p.I461M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.I525M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.I525M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.I525M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.I461M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.I525M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.I525M|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	525						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGATGAATAGGATGGCAGAGA	0.542000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	93					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584327	37584327	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:37584327C>G	ENST00000399151.3	+	7	921	c.836C>G	c.(835-837)tCa>tGa	p.S279*	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	279					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGCATTCTCTCAGCCGCCACC	0.478000													22	20					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5733907C>A	ENST00000381624.3	+	5	378	c.317C>A	c.(316-318)tCg>tAg	p.S106*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	106						integral to membrane											TTTGCTGGTTCGTTATTGCTG	0.313000													33	18					9.65021e-13	1.0666e-12	1	1	0
ERCC5	2073	broad.mit.edu	37	13	103498693	103498693	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:103498693T>A	ENST00000355739.4	+	1	1500	c.77T>A	c.(76-78)aTc>aAc	p.I26N	BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_Missense_Mutation_p.I26N	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGGGAAGATCCTGGCTGTT	0.662000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482504	228482504	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:228482504G>T	ENST00000570156.2	+	48	12780	c.12706G>T	c.(12706-12708)Gat>Tat	p.D4236Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D926Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2654Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D926Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3807Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3807Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3279	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATTCATAGAAGATGTGAAAAA	0.572000													21	68					1.55795e-14	1.72894e-14	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81579773	81579773	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:81579773A>T	ENST00000356860.3	-	39	3549	c.3211T>A	c.(3211-3213)Tat>Aat	p.Y1071N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y1083N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.Y283N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1083						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCAATGATATACCACAGGGAG	0.368000													4	19					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395448	115395448	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:115395448G>A	ENST00000393780.3	+	3	1195	c.727G>A	c.(727-729)Gag>Aag	p.E243K	GAP43_ENST00000305124.6_Missense_Mutation_p.E207K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	207					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCAAGCTGAAGAGAACATAGG	0.607000													5	10					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509050	26509050	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:26509050G>A	ENST00000244513.6	+	7	1295	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	410	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACTCCTCTCCGGACCCCTCTC	0.512000													119	40					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150941457	150941457	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:150941457G>A	ENST00000271688.6	-	2	496	c.110C>T	c.(109-111)tCa>tTa	p.S37L	CERS2_ENST00000561294.1_Missense_Mutation_p.S37L|CERS2_ENST00000345896.4_Intron|CERS2_ENST00000368954.5_Missense_Mutation_p.S37L	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	37						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ATAGAGATCTGAGGCTTTGGC	0.527000													16	74					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117090345	117090345	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:117090345G>T	ENST00000320934.3	-	10	1915	c.1285C>A	c.(1285-1287)Cgt>Agt	p.R429S	PCSK7_ENST00000540028.1_Missense_Mutation_p.R70S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	429	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGTCACGCCACGTGAGG	0.622000			T	IGH@	MLCLS								3	21					0.00024832	0.000255431	1	1	0
SMEK2	57223	broad.mit.edu	37	2	55825572	55825572	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:55825572C>G	ENST00000272313.5	-	4	1228	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	SMEK2_ENST00000345102.5_Missense_Mutation_p.E301Q|SMEK2_ENST00000407823.3_Missense_Mutation_p.E301Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	301						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGACTATCTCAACTTTGTTG	0.353000													27	46					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507004	98507004	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:98507004C>T	ENST00000265261.6	+	7	624	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186F	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	186					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GACAGTGATTCTCACTGCTTT	0.383000													11	60					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1363508	1363508	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:1363508C>T	ENST00000446702.2	+	8	1563	c.936C>T	c.(934-936)ctC>ctT	p.L312L	CNTN6_ENST00000350110.2_Silent_p.L312L|CNTN6_ENST00000539053.1_Silent_p.L240L			Q9UQ52	CNTN6_HUMAN	contactin 6	312					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGGTCAACTCATTTTTTATG	0.348000													12	15					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329387	152329387	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:152329387T>A	ENST00000388718.5	-	3	947	c.875A>T	c.(874-876)cAa>cTa	p.Q292L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	292	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAAGCATTTTGTGGCCTTCC	0.448000													34	345					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401809	140401809	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:140401809G>A	ENST00000286349.3	+	2	1038	c.847G>A	c.(847-849)Gag>Aag	p.E283K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	283						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACCAGCGCCGAGGAACAGGA	0.572000													13	7					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97342466	97342466	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:97342466A>G	ENST00000517309.1	+	11	1525	c.1199A>G	c.(1198-1200)tAc>tGc	p.Y400C	PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y254C|PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y197C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	400					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTCTGTCTGTACGGCATGATT	0.453000													14	35					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36368637	36368637	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:36368637G>T	ENST00000221891.4	+	12	1654	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	APLP1_ENST00000586861.1_Nonsense_Mutation_p.E482*|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Nonsense_Mutation_p.E449*	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	488					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCACTCTGAACACCTGGG	0.607000													5	18					0.000602214	0.000618527	1	1	0
TTN	7273	broad.mit.edu	37	2	179664373	179664373	+	Missense_Mutation	SNP	T	T	G	rs146238443		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:179664373T>G	ENST00000589042.1	-	6	979	c.755A>C	c.(754-756)aAa>aCa	p.K252T	TTN_ENST00000342175.6_Missense_Mutation_p.K252T|TTN_ENST00000360870.5_Missense_Mutation_p.K252T|TTN_ENST00000359218.5_Missense_Mutation_p.K252T|TTN_ENST00000460472.2_Missense_Mutation_p.K252T|TTN_ENST00000591111.1_Missense_Mutation_p.K252T|TTN_ENST00000342992.6_Missense_Mutation_p.K252T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	252							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)			GGGAGGTGTTTTATGTGGCAG	0.512000													16	32					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512852	68512852	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:68512852G>T	ENST00000370981.1	-	4	765	c.129C>A	c.(127-129)gtC>gtA	p.V43V	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.V43V|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	43					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGCGGTGCCGACTACCACGA	0.582000													9	47					1.76689e-08	1.90959e-08	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73718362	73718362	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:73718362G>A	ENST00000264448.6	+	10	9384	c.9273G>A	c.(9271-9273)tcG>tcA	p.S3091S	ALMS1_ENST00000409009.1_Silent_p.S3049S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3091					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGTATCTTCGAGATCACTGG	0.383000													24	62					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38152557	38152557	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:38152557C>G	ENST00000264639.4	+	10	1616	c.1442C>G	c.(1441-1443)tCc>tGc	p.S481C	PSMD3_ENST00000541736.1_Missense_Mutation_p.S343C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	481					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CAGCGCATCTCCTTCTGCCTA	0.562000													28	139					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160232786	160232786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:160232786G>A	ENST00000610273.1	+	11	1045	c.874G>A	c.(874-876)Gat>Aat	p.D292N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D303N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGTTCTCATTGATACCAAGAG	0.388000													7	60					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751859	53751859	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:53751859C>A	ENST00000302005.1	+	1	415	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	80					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGGTCCAGTTCCTCCCTGAAG	0.537000													12	32					7.03913e-09	7.61967e-09	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:50339780C>T	ENST00000376020.2	-	9	4422	c.4397G>A	c.(4396-4398)cGa>cAa	p.R1466Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1350Q|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1466Q	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1466	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGCTCTCGCTGTTCAAT	0.502000													7	11					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2930096	2930096	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:2930096C>T	ENST00000264758.7	+	15	2341	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P687L|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398129.1_Missense_Mutation_p.P687L|ADD1_ENST00000503455.2_3'UTR	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	687	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCAGCCCCGGTGGCTGAA	0.667000													27	19					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129854107	129854107	+	Missense_Mutation	SNP	C	C	T	rs140507856	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:129854107C>T	ENST00000373425.3	-	4	1741	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R73H	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	375	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAAGACTTTGCGGCCGGACCA	0.547000													4	197					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135290110	135290110	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:135290110A>T	ENST00000543669.1	+	4	1202	c.491A>T	c.(490-492)aAg>aTg	p.K164M	FHL1_ENST00000370690.3_Missense_Mutation_p.K164M|FHL1_ENST00000370683.1_Missense_Mutation_p.K180M|FHL1_ENST00000370676.3_Missense_Mutation_p.K180M|FHL1_ENST00000539015.1_Missense_Mutation_p.K193M|FHL1_ENST00000345434.3_Missense_Mutation_p.K164M|FHL1_ENST00000394153.2_Missense_Mutation_p.K164M|FHL1_ENST00000394155.2_Missense_Mutation_p.K164M|FHL1_ENST00000535737.1_Missense_Mutation_p.K164M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	164	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CATTGCGTGAAGTGCAACAAG	0.478000													21	24					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79423488	79423488	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:79423488C>T	ENST00000307745.7	+	20	4735	c.4735C>T	c.(4735-4737)Ctg>Ttg	p.L1579L																								CCGGGAGAAGCTGTCCCGAGC	0.682000													3	2					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43175134	43175134	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:43175134G>A	ENST00000509634.1	+	7	2125	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	ZNF131_ENST00000505606.2_Missense_Mutation_p.D557N|ZNF131_ENST00000306938.4_Missense_Mutation_p.D557N|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.D591N|ZNF131_ENST00000509156.1_Missense_Mutation_p.D591N			P52739	ZN131_HUMAN	zinc finger protein 131	591						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGCCAGGGAAGATCACGAAGA	0.483000													7	43					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	803530	803530	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:803530G>C	ENST00000297440.6	+	8	1722	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	HEATR2_ENST00000313147.5_Missense_Mutation_p.E568Q	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	568							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCCCTCCTGGAGCGGGTGAC	0.627000													9	87					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128246769	128246769	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:128246769C>G	ENST00000295321.4	-	12	2461	c.2202G>C	c.(2200-2202)ctG>ctC	p.L734L	AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	734					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCTCTCCTGTCAGCACCTTTT	0.358000													21	27					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866292	39866292	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:39866292C>T	ENST00000314471.6	+	7	1705	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	SAMD4B_ENST00000596368.1_Missense_Mutation_p.L224F|SAMD4B_ENST00000598913.1_Missense_Mutation_p.L224F	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	224							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGGCCAGGTCTCCCCTGCCA	0.602000													106	60					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573450	56573450	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:56573450C>G	ENST00000323456.5	-	16	2177	c.2053G>C	c.(2053-2055)Gac>Cac	p.D685H	MTMR4_ENST00000579925.1_Missense_Mutation_p.D628H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	685						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAGTAGTCTTTCTGGCTG	0.498000													34	172					0	0	1	0	0
ROCK1P1	727758	broad.mit.edu	37	18	117058	117058	+	RNA	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:117058G>A	ENST00000608049.1	+	0	484					NR_033770.1																						ATATGCAAATGAAGGTGAATG	0.318000													33	22					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41164272	41164272	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:41164272G>A	ENST00000379845.3	-	1	237	c.105C>T	c.(103-105)ctC>ctT	p.L35L	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GGAGGTGAGTGAGGACGGTTC	0.602000													5	9					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24194638	24194638	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:24194638G>A	ENST00000374479.3	-	1	146	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	47					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GGCAGCGGCCGAGAATCCAGG	0.697000													5	5					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97959850	97959850	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:97959850G>C	ENST00000224337.5	-	15	1217	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	BLNK_ENST00000427367.2_Missense_Mutation_p.A359G|BLNK_ENST00000371176.2_Missense_Mutation_p.A336G|BLNK_ENST00000413476.2_Missense_Mutation_p.A359G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	359	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTGTGCAATGCCTCTTCAGC	0.393000													3	20					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520681	58520681	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:58520681C>T	ENST00000302819.5	-	2	444	c.153G>A	c.(151-153)agG>agA	p.R51R	ACOX2_ENST00000459701.2_Silent_p.R51R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	51					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TACCAACTTTCCTGCGGAGTG	0.502000													68	17					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13789762	13789762	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:13789762C>T	ENST00000357447.2	-	9	890	c.522G>A	c.(520-522)ctG>ctA	p.L174L	FRMD4A_ENST00000378503.1_Silent_p.L174L|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000358621.4_Silent_p.L159L|FRMD4A_ENST00000342409.2_Silent_p.L190L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	174	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGTGCTCCTTCAGGGCTTGGG	0.567000													12	58					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279204	16279204	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:16279204C>G	ENST00000343518.6	-	4	1070	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	340										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCTTCCATATCTATCCAGTGC	0.318000													9	199					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43012596	43012596	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:43012596C>T	ENST00000535468.1	-	16	3404	c.3318G>A	c.(3316-3318)caG>caA	p.Q1106Q	CUL7_ENST00000265348.3_Silent_p.Q1022Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1022					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCAAAATTCTGCTCCTGGC	0.582000													24	43					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027999	37027999	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:37027999C>G	ENST00000358047.3	+	1	1568	c.1516C>G	c.(1516-1518)Cgc>Ggc	p.R506G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	506										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCAAGACACGCGTATCTCA	0.622000													23	52					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159890	154159890	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:154159890C>A	ENST00000360256.4	-	14	2375	c.2175G>T	c.(2173-2175)ctG>ctT	p.L725L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	725	F5/8 type A 2.|Plastocyanin-like 4.		L -> Q (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGAAACCTTCAGTAAGGCGG	0.423000													26	6					3.65163e-15	4.06232e-15	1	1	0
ZNF546	339327	broad.mit.edu	37	19	40519967	40519967	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:40519967C>T	ENST00000347077.4	+	7	1006	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	ZNF546_ENST00000600094.1_Missense_Mutation_p.H238Y|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGAGTACATCACACAATCCA	0.418000													14	79					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518436	106518436	+	RNA	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:106518436C>G	ENST00000390598.2	-	0	393																											CCTCGGCTCTCAGGCTGTTCA	0.527000													26	124					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382490	109382490	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:109382490C>T	ENST00000283195.6	+	20	5621	c.5495C>T	c.(5494-5496)tCt>tTt	p.S1832F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1832					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGCATGACTCTTCTGGAAGT	0.403000													11	87					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131084002	131084002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:131084002C>A	ENST00000352689.6	+	6	553	c.513C>A	c.(511-513)taC>taA	p.Y171*	MKLN1_ENST00000429546.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.Y79*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	171					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCTAGTAGTACCGTGAACAGG	0.373000													13	52					9.31168e-06	9.77726e-06	1	1	0
NOL11	25926	broad.mit.edu	37	17	65733703	65733703	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:65733703T>C	ENST00000253247.4	+	12	1413	c.1298T>C	c.(1297-1299)aTt>aCt	p.I433T	NOL11_ENST00000535137.1_Missense_Mutation_p.I251T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	433						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATACTGTCATTGGGGACACA	0.413000													49	123					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24040399	24040399	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:24040399G>T	ENST00000290691.5	+	10	2431	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Splice_Site_p.E285*|RGL4_ENST00000460167.1_3'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	421	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGTCTCTAGGAGGTCCGAGT	0.552000													4	13					1.23904e-05	1.298e-05	1	1	0
TRIM24	8805	broad.mit.edu	37	7	138200032	138200032	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:138200032T>A	ENST00000343526.4	+	3	774	c.559T>A	c.(559-561)Tgt>Agt	p.C187S	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.C187S			O15164	TIF1A_HUMAN	tripartite motif containing 24	187					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTGCAAGACGTGTATCAGAGC	0.423000													12	72					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3746369	3746369	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:3746369C>G	ENST00000378230.3	-	14	2353	c.2029G>C	c.(2029-2031)Gat>Cat	p.D677H		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	677						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCTCAGCATCTGTAGCTCTG	0.413000													15	65					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600590	31600590	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:31600590G>A	ENST00000376033.2	+	16	4374	c.4140G>A	c.(4138-4140)ttG>ttA	p.L1380L	PRRC2A_ENST00000376007.4_Silent_p.L1380L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1380	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAAGGATTTGAGTAAACGGA	0.627000													61	179					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275929	129275929	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:129275929C>T	ENST00000324093.4	-	34	5761	c.5583G>A	c.(5581-5583)tcG>tcA	p.S1861S	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Silent_p.S17S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1861					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACCGCACCCTCGACTCCTCGG	0.647000													13	35					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657167	35657167	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:35657167C>G	ENST00000342879.3	+	7	1204	c.426C>G	c.(424-426)ctC>ctG	p.L142L	FXYD5_ENST00000543307.1_Silent_p.L142L|FXYD5_ENST00000392219.2_Silent_p.L142L|FXYD5_ENST00000588699.1_Silent_p.L142L|FXYD5_ENST00000590686.1_Silent_p.L142L|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Silent_p.L142L|FXYD5_ENST00000541435.2_Silent_p.L142L|FXYD5_ENST00000392217.3_Silent_p.L71L			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	142					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AACACACCCTCCGGAAACGGG	0.532000													90	70					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272946	43272946	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:43272946C>T	ENST00000263246.3	-	9	1300	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PACSIN2_ENST00000402229.1_Missense_Mutation_p.E367K|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000403744.3_Missense_Mutation_p.E367K	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	367					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GTGTCGTCCTCATCCTCGAAG	0.572000													16	43					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267624	7267624	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:7267624G>C	ENST00000341500.5	-	2	423	c.384C>G	c.(382-384)ctC>ctG	p.L128L	INSR_ENST00000302850.5_Silent_p.L128L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	128					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAGTTCCTTGAGGTGAACCA	0.547000													8	34					0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129690851	129690851	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129690851G>C	ENST00000368671.3	-	1	360	c.198C>G	c.(196-198)caC>caG	p.H66Q		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	66						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CTGCAAGTCCGTGACTCAATT	0.368000													13	80					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40714960	40714960	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:40714960G>C	ENST00000298910.7	+	35	5198	c.5140G>C	c.(5140-5142)Gag>Cag	p.E1714Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1714					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCGATTACTTGAGATTTCACC	0.313000													9	17					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654678	19654678	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:19654678C>T	ENST00000586018.1	+	8	1444	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	CILP2_ENST00000291495.5_Missense_Mutation_p.R442C			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	442						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCTGTGCGCCGTCTGGAGAG	0.687000													8	8					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585876	82585876	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:82585876C>G	ENST00000333891.9	-	5	4730	c.4393G>C	c.(4393-4395)Gaa>Caa	p.E1465Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1465Q	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						ATCTCCTCTTCTGAAATAGTA	0.373000													29	35					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569964	30569964	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:30569964C>G	ENST00000376511.2	-	19	3014	c.2462G>C	c.(2461-2463)gGa>gCa	p.G821A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	821	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCCATTCCTCCGCCAGGGCC	0.672000													29	198					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60613588	60613588	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:60613588G>A	ENST00000326270.9	+	7	689	c.421G>A	c.(421-423)Gag>Aag	p.E141K	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.E109K|TLK2_ENST00000346027.5_Missense_Mutation_p.E141K|TLK2_ENST00000542523.1_Missense_Mutation_p.E109K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	141					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGAGGCAACGGAGGAGCAGTC	0.517000													8	29					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	479978	479978	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:479978C>T	ENST00000264938.3	-	10	1629	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L531L|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	540						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGCATCCTTCAGGTTCAGCT	0.622000													6	51					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112451288	112451288	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:112451288C>T	ENST00000261735.3	+	1	169	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	ERP29_ENST00000455836.1_Missense_Mutation_p.R7C	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	7					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CGCTGTGCCCCGCGCCGCATT	0.687000													11	22					0	0	1	0	0
C19orf53	28974	broad.mit.edu	37	19	13888905	13888905	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:13888905G>A	ENST00000588234.1	+	3	503	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	C19orf53_ENST00000593274.1_Missense_Mutation_p.V22M	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	65								p.V65M(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CGAACATGACGTGGTGATGAA	0.592000													29	33					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214320	123214320	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:123214320G>A	ENST00000432564.1	-	1	809	c.567C>T	c.(565-567)ctC>ctT	p.L189L	HCAR1_ENST00000436083.2_Silent_p.L189L|HCAR1_ENST00000356987.2_Silent_p.L189L	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	189					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AGATGATGCCGAGGGGCATAA	0.552000													26	33					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720209	160720209	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:160720209A>T	ENST00000368043.3	+	4	802	c.765A>T	c.(763-765)caA>caT	p.Q255H	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.Q148H|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.Q255H	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	255					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAGAGAGACAAGAAGGTAGAG	0.468000													26	217					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	466451	466451	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:466451G>C	ENST00000506646.1	-	2	201	c.43C>G	c.(43-45)Cca>Gca	p.P15A	ZNF721_ENST00000507078.1_5'UTR|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_5'UTR|ZNF721_ENST00000338977.5_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CACTCTTCTGGAGAGAATTCT	0.418000													31	38					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131342000	131342000	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:131342000G>C	ENST00000358161.5	+	10	1419	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D436H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D436H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	436					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTATGCCTCAGATGAAGTGAG	0.413000													22	6					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71658555	71658555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:71658555G>T	ENST00000409544.1	+	26	6379	c.5749G>T	c.(5749-5751)Gag>Tag	p.E1917*	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.E1917*|ZNF638_ENST00000409407.1_Nonsense_Mutation_p.E857*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1917					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGATGTCCCTGAGGGTAAAGT	0.463000													22	54					5.49717e-05	5.72796e-05	1	1	0
ZNF595	152687	broad.mit.edu	37	4	59410	59410	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:59410G>T	ENST00000509152.2	+	2	276	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D31Y					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTTGTATAGAGATGTGATGTT	0.423000													19	605					1.01871e-10	1.11422e-10	1	1	0
ERP29	10961	broad.mit.edu	37	12	112460024	112460024	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:112460024C>G	ENST00000261735.3	+	3	504	c.354C>G	c.(352-354)ttC>ttG	p.F118L	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.F17L	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	118					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						ACCCAGTCTTCTACCTCTTCC	0.517000													15	37					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086515	44086515	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:44086515C>G	ENST00000359947.4	+	32	5711	c.5371C>G	c.(5371-5373)Cag>Gag	p.Q1791E	PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1782E|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1150E|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1791E|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1782E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1791	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGGATGGGCAGTCAAGGAC	0.557000													6	22					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686816	53686816	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:53686816C>G	ENST00000262135.4	-	15	1876	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D595H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D595H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D595H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	595				D -> G (in Ref. 1; CAH18439).	negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGGTTTCATCAAATTCATCA	0.373000													10	30					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1334467	1334467	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:1334467C>G	ENST00000400809.3	-	1	225	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	CCNL2_ENST00000408918.4_Missense_Mutation_p.E74Q	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	74					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGGTCGGTCTCTGTGTCGGTG	0.692000													5	23					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243742	13243742	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:13243742G>A	ENST00000337630.6	-	2	87	c.20C>T	c.(19-21)tCg>tTg	p.S7L	GSG1_ENST00000351606.6_Missense_Mutation_p.S20L|GSG1_ENST00000432710.2_Missense_Mutation_p.S20L|GSG1_ENST00000396310.2_Missense_Mutation_p.S4L|GSG1_ENST00000396302.3_Missense_Mutation_p.S7L|GSG1_ENST00000324458.8_Missense_Mutation_p.S20L|GSG1_ENST00000457134.2_Missense_Mutation_p.S7L|GSG1_ENST00000537302.1_Missense_Mutation_p.S7L	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	7						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAGGCCTTCGAGAGCTCCAT	0.557000													20	12					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143099	18143099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:18143099C>T	ENST00000435364.3	+	6	1522	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S266F|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S393F	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TCAGTAGCTTCTGGGCCAGTG	0.532000													13	9					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270909	53270909	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:53270909A>G	ENST00000338230.3	-	3	367	c.100T>C	c.(100-102)Ttc>Ctc	p.F34L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATTTCCTGGAAGCAAAAATCT	0.378000													31	172					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947375	57947375	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:57947375C>T	ENST00000335397.3	+	3	775	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGCTGGTCTCATCAGTGCCT	0.532000													6	43					0	0	1	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639982	31639982	+	Missense_Mutation	SNP	C	C	T	rs142186859		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:31639982C>T	ENST00000375864.4	+	3	1313	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LY6G5B_ENST00000409525.1_Missense_Mutation_p.R122C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	177						extracellular region				lung(4)	4						TGAGCTGCGCCGCATGTACTT	0.542000													13	137					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721796	135721796	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:135721796A>G	ENST00000264977.3	+	2	2073	c.1456A>G	c.(1456-1458)Aaa>Gaa	p.K486E	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	486					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGACTGTAAATCAAAAGT	0.328000													12	45					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215855516	215855516	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:215855516G>A	ENST00000272895.7	-	24	3753	c.3534C>T	c.(3532-3534)atC>atT	p.I1178I	ABCA12_ENST00000389661.4_Silent_p.I860I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1178					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAGGCTTCCGATCAGAGCTG	0.398000													15	25					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704504	40704504	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:40704504A>C	ENST00000372771.4	+	8	4157	c.4130A>C	c.(4129-4131)aAa>aCa	p.K1377T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1377					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTGTGTTCCAAAGCTCTTGCT	0.378000													24	55					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218174	44218174	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:44218174G>A	ENST00000371554.1	+	6	1009	c.795G>A	c.(793-795)aaG>aaA	p.K265K	HSP90AB1_ENST00000371646.5_Silent_p.K265K|HSP90AB1_ENST00000353801.3_Silent_p.K265K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	265					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			gtaaggataagaagaagaaaa	0.398000													8	31					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100490871	100490871	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:100490871C>T	ENST00000395209.3	+	4	667	c.140C>T	c.(139-141)cCt>cTt	p.P47L	DRP2_ENST00000538510.1_Missense_Mutation_p.P47L|DRP2_ENST00000402866.1_Missense_Mutation_p.P47L|DRP2_ENST00000541709.1_5'UTR	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	47					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCACCAGCCCTGCACCTCCT	0.557000													47	9					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942026	75942026	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:75942026G>A	ENST00000308527.5	+	1	1780	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	195					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCTGGAGTGGAGGCCTTCAT	0.597000													16	63					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30640749	30640749	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:30640749G>A	ENST00000249075.3	-	2	348	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	LIF_ENST00000403987.3_Intron	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	65					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CTTACATAGAGAATAAAGAGG	0.527000													7	28					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926341	156926341	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:156926341G>A	ENST00000368194.3	-	19	2581	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ARHGEF11_ENST00000361409.2_Silent_p.F474F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	474					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TATTGAGGGCGAAGTCCATGG	0.527000													27	108					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37813329	37813329	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:37813329C>T	ENST00000336308.5	+	3	506	c.288C>T	c.(286-288)ttC>ttT	p.F96F	STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Silent_p.F96F|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000544210.2_Silent_p.F96F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	96	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCCTTCTTCGACATCTTTG	0.517000													23	23					0	0	1	0	0
OXT	5020	broad.mit.edu	37	20	3052354	3052354	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:3052354C>T	ENST00000217386.2	+	1	89	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	18					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	GCGCTGACCTCCGCCTGCTAC	0.726000													6	1					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52968878	52968878	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:52968878C>T	ENST00000394752.3	-	5	786	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R135Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R135Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R135Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	135					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CAGGGTCTGCCGCAGAAACTC	0.468000													4	20					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468864	86468864	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:86468864G>A	ENST00000361669.2	+	4	3133	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	GRM3_ENST00000536043.1_Silent_p.Q550Q|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.Q270Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	678					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGGCGCTCAGAGGCCAAAAT	0.547000													15	67					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725383	26725383	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:26725383C>G	ENST00000396005.3	-	5	946	c.637G>C	c.(637-639)Gta>Cta	p.V213L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V213L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	213					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCTCTAATACATTGTGGAAT	0.393000													32	260					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403763	179403763	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:179403763C>G	ENST00000589042.1	-	353	99123	c.98899G>C	c.(98899-98901)Gag>Cag	p.E32967Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24094Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24027Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23902Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31326Q|TTN_ENST00000342992.6_Missense_Mutation_p.E30399Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31326							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)			AACTGATACTCAGCATCGGGA	0.483000													27	14					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:30297275G>C	ENST00000376659.5	+	3	779	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	TRIM39_ENST00000540416.1_Missense_Mutation_p.E61Q|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61Q|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61Q|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61Q	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542000													29	118					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861986	57861986	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:57861986G>T	ENST00000228682.2	+	10	1378	c.1287G>T	c.(1285-1287)ctG>ctT	p.L429L	GLI1_ENST00000546141.1_Silent_p.L388L|GLI1_ENST00000543426.1_Silent_p.L301L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	429					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AAAGCAGACTGACTGTGCCAG	0.612000													4	11					0.00024832	0.000255431	1	1	0
ZNF385B	151126	broad.mit.edu	37	2	180308037	180308037	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:180308037C>G	ENST00000410066.1	-	10	1959	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	ZNF385B_ENST00000409692.1_Silent_p.L350L|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.L376L|ZNF385B_ENST00000336917.5_Silent_p.L350L	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	452						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCCCAGGCCTCAGAAGAGCTG	0.637000													7	11					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153715847	153715847	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:153715847C>T	ENST00000263512.4	-	2	1931	c.1433G>A	c.(1432-1434)tGa>tAa	p.*478*	SLC10A3_ENST00000393586.1_Silent_p.*533*|SLC10A3_ENST00000369649.4_Silent_p.*449*|SLC10A3_ENST00000393587.4_Silent_p.*478*	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	0					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGGCCTCAGGGAACTGG	0.552000													9	1					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60491135	60491135	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:60491135C>G	ENST00000371201.3	-	8	1172	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L	C1orf87_ENST00000450089.2_Silent_p.L126L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	355							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTCAGGGTCAGATATAATC	0.328000													69	38					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138256	48138256	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:48138256G>A	ENST00000311303.3	-	20	3042	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	899	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCGTGTCAAAGAAACTCATTG	0.493000													16	42					0	0	1	0	0
C9orf163	158055	broad.mit.edu	37	9	139379010	139379010	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:139379010G>A	ENST00000354376.1	+	1	1064	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	37							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGCCCGCCCGATGGCATCGC	0.726000													5	1					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39777017	39777017	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:39777017C>T	ENST00000540235.1	-	9	1551	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	KRT17_ENST00000311208.8_Missense_Mutation_p.E359K			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCTCCATCTCGCAGCGAAGC	0.622000													12	57					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657793	197657793	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:197657793C>T	ENST00000263956.3	-	3	387	c.298G>A	c.(298-300)Gag>Aag	p.E100K	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E100K	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	100	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						tcttcttcctcttcctcctcA	0.468000													12	28					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536747	30536747	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:30536747G>C	ENST00000380412.5	-	2	889	c.714C>G	c.(712-714)ctC>ctG	p.L238L	ZNF768_ENST00000562803.1_Silent_p.L207L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	238					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCTCCTGTGAGACCCAGGG	0.657000													15	64					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132553015	132553015	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:132553015G>A	ENST00000265342.7	-	13	1763	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	505						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGACTGCAGATACCCACTG	0.493000													11	21					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669121	122669121	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:122669121G>A	ENST00000339777.4	+	2	234	c.206G>A	c.(205-207)aGa>aAa	p.R69K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	69										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTTGTCCCCAGAGAGGAGGAT	0.607000													4	17					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93220321	93220321	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:93220321C>T	ENST00000446394.1	+	3	506	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	HECTD2_ENST00000298068.5_Splice_Site_p.Q136*|HECTD2_ENST00000371681.4_Splice_Site_p.Q136*	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	136					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAAGACTTTCAGTAAGTTTC	0.353000													18	75					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838029	176838029	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:176838029C>G	ENST00000367654.3	-	22	3833	c.3622G>C	c.(3622-3624)Gag>Cag	p.E1208Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.E1200Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.E1200Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1200Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAAAACTCTCATAGTGCTGG	0.478000													16	40					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	42					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10487671	10487671	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:10487671G>T	ENST00000355285.5	+	5	1535	c.1181G>T	c.(1180-1182)gGc>gTc	p.G394V		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGGGCCGAGGGCTCCTGGCAG	0.577000													12	47					6.40141e-05	6.63472e-05	1	1	0
AMTN	401138	broad.mit.edu	37	4	71384529	71384529	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:71384529G>A	ENST00000339336.4	+	2	165	c.35G>A	c.(34-36)gGa>gAa	p.G12E	AMTN_ENST00000504451.1_Missense_Mutation_p.G12E	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	12					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TGTCTTCTAGGATCAACTCGG	0.393000													13	13					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099103	169099103	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:169099103G>C	ENST00000494292.1	-	2	344	c.247C>G	c.(247-249)Cga>Gga	p.R83G	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	83							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTGACTCTCGAAGTTCAAAC	0.478000													13	79					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80976622	80976622	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:80976622C>T	ENST00000403729.2	-	5	904		c.e5-1		ANTXR2_ENST00000307333.7_Splice_Site|ANTXR2_ENST00000295465.4_Splice_Site|ANTXR2_ENST00000404191.1_Splice_Site|ANTXR2_ENST00000346652.6_Splice_Site	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2							endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GTTCATTCGCCTGAAAATGAA	0.363000									Juvenile Hyaline Fibromatosis				8	10					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112838974	112838974	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:112838974C>G	ENST00000283206.4	+	8	1086	c.717C>G	c.(715-717)gcC>gcG	p.A239A		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	239						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CGTGGTCTGCCTGTTATTGGA	0.338000													7	79					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30556314	30556314	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:30556314C>T	ENST00000562532.2	+	1	510	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCGCTGGTTCGTCTACGACT	0.637000													8	8					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137018461	137018461	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:137018461C>G	ENST00000359015.4	-	5	1231	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	291					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GCTGCCAATTCTTTACCAGTG	0.383000													71	38					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792114	55792114	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:55792114C>T	ENST00000272313.5	-	12	2071	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	SMEK2_ENST00000345102.5_Missense_Mutation_p.E667K|SMEK2_ENST00000407823.3_Missense_Mutation_p.E635K	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	667						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAACATATTCAATCGATTCA	0.289000													29	36					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60613651	60613651	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:60613651G>C	ENST00000582809.1	+	8	740	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	TLK2_ENST00000343388.7_Missense_Mutation_p.E130Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E162Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E162Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E130Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	162					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCTTGACACAGAGCAGCTGGC	0.507000													8	17					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583806	82583806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:82583806C>A	ENST00000333891.9	-	5	6800	c.6463G>T	c.(6463-6465)Gag>Tag	p.E2155*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E2155*	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						GCAATTATCTCTTGAATTTCT	0.403000													14	46					1.15088e-07	1.23502e-07	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599270	136599270	+	Missense_Mutation	SNP	G	G	A	rs148555353	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:136599270G>A	ENST00000531224.1	-	4	1001	c.749C>T	c.(748-750)aCa>aTa	p.T250I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.T248I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T250I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.T248I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.T248I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.T250I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	250					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAGTGAACTGTACTGAGCAT	0.443000													7	89					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88924932	88924932	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:88924932C>A	ENST00000277141.6	-	20	3670	c.1246G>T	c.(1246-1248)Gcc>Tcc	p.A416S	ZCCHC6_ENST00000375957.1_Splice_Site_p.A65S|ZCCHC6_ENST00000375960.2_Splice_Site_p.A891S|ZCCHC6_ENST00000375963.3_Splice_Site_p.A1127S|ZCCHC6_ENST00000375961.2_Splice_Site_p.A1127S			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1127					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTATGAAGGGCCTGTTAAAAG	0.348000													18	10					7.07596e-05	7.32829e-05	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76456023	76456023	+	Missense_Mutation	SNP	C	C	T	rs147019486	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:76456023C>T	ENST00000389840.5	-	60	9578	c.9454G>A	c.(9454-9456)Gcc>Acc	p.A3152T	DNAH17_ENST00000585328.1_Missense_Mutation_p.A3161T|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGACGGCGGCGGTGACGTTG	0.582000													6	49					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627926	37627926	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:37627926C>G	ENST00000447079.4	+	2	1874	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CDK12_ENST00000430627.2_Missense_Mutation_p.S614C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	614					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTCAAGTATCTGTAACAGCT	0.473000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			15	99					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21675621	21675621	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:21675621C>T	ENST00000328843.6	+	26	4679	c.4648C>T	c.(4648-4650)Cac>Tac	p.H1550Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H1545Y|DNAH11_ENST00000465593.1_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1550	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACTTGGTCTCACCTGGAAAG	0.388000									Kartagener syndrome				14	4					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41349006	41349006	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:41349006G>A	ENST00000422280.1	+	16	2368	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	NBR1_ENST00000590996.1_Missense_Mutation_p.E637K|NBR1_ENST00000589872.1_Missense_Mutation_p.E637K|NBR1_ENST00000542611.1_Missense_Mutation_p.E616K|NBR1_ENST00000389312.4_Missense_Mutation_p.E637K|NBR1_ENST00000341165.6_Missense_Mutation_p.E637K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	637					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGCTTCTGTGGAGGAAGCAGA	0.493000													7	39					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91366758	91366758	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:91366758C>G	ENST00000261172.3	-	4	433		c.e4-1			NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan						female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTTGGAAAGTCTAAAAGATAA	0.358000													5	44					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256728	140256728	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140256728C>T	ENST00000398631.2	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.D557D(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.701000													46	85					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569944	150569944	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:150569944G>C	ENST00000361131.4	+	4	603	c.486G>C	c.(484-486)aaG>aaC	p.K162N		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	162					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CTCCGCAGAAGAAGAGTGTAT	0.423000													4	35					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962537	26962537	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:26962537C>G	ENST00000528896.2	-	16	2142	c.2068G>C	c.(2068-2070)Gac>Cac	p.D690H	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D547H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D547H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	690						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTAGTAGGTCTCGGCACTGT	0.537000													16	29					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99924673	99924673	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:99924673G>C	ENST00000331768.5	-	6	777	c.618C>G	c.(616-618)gtC>gtG	p.V206V	SETD3_ENST00000329331.3_Silent_p.V206V|SETD3_ENST00000436070.2_Silent_p.V206V|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	206	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACTGGCTGAAGACATCATGTA	0.413000													51	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650829	179650829	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:179650829C>T	ENST00000589042.1	-	14	2340	c.2116G>A	c.(2116-2118)Gtt>Att	p.V706I	TTN_ENST00000342175.6_Missense_Mutation_p.V660I|TTN_ENST00000360870.5_Missense_Mutation_p.V706I|TTN_ENST00000359218.5_Missense_Mutation_p.V660I|TTN_ENST00000460472.2_Missense_Mutation_p.V660I|TTN_ENST00000591111.1_Missense_Mutation_p.V706I|TTN_ENST00000342992.6_Missense_Mutation_p.V706I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	706							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)			ACTGCAGCAACAACTGTTGCT	0.483000													17	9					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30821705	30821705	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:30821705C>G	ENST00000265299.6	+	3	373	c.296C>G	c.(295-297)tCa>tGa	p.S99*	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	99										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCACTCTCAGTTCCAAAG	0.398000													9	60					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903019	129903019	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129903019C>T	ENST00000368654.3	-	13	7460	c.7085G>A	c.(7084-7086)aGa>aAa	p.R2362K	MKI67_ENST00000368653.3_Missense_Mutation_p.R2002K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2362	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)				CCTGAGGTTTCTCTTGGGCCG	0.493000													65	228					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620245	144620245	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:144620245G>C	ENST00000262577.5	-	2	1323	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	431					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGTCTCCCCAGAGAGGGGCTT	0.642000													9	35					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963681	1963681	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:1963681G>T	ENST00000217305.2	-	3	275	c.50C>A	c.(49-51)tCc>tAc	p.S17Y	PDYN_ENST00000540134.1_Missense_Mutation_p.S17Y|PDYN_ENST00000539905.1_Missense_Mutation_p.S17Y|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	17					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTGTGGTGGAGGGGAACAT	0.562000													13	4					2.32078e-09	2.52018e-09	1	1	0
TALDO1	6888	broad.mit.edu	37	11	763933	763933	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:763933C>T	ENST00000319006.3	+	6	977	c.824C>T	c.(823-825)tCa>tTa	p.S275L	TALDO1_ENST00000528097.1_Missense_Mutation_p.S275L			P37837	TALDO_HUMAN	transaldolase 1	275					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CCTGTGCTCTCAGCCAAGGCG	0.662000													8	20					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11553317	11553317	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:11553317G>C	ENST00000252455.2	+	7	921	c.585G>C	c.(583-585)caG>caC	p.Q195H	PRKCSH_ENST00000592741.1_Missense_Mutation_p.Q195H|PRKCSH_ENST00000589838.1_Missense_Mutation_p.Q195H|PRKCSH_ENST00000412601.1_Missense_Mutation_p.Q195H|PRKCSH_ENST00000587327.1_Missense_Mutation_p.Q195H|PRKCSH_ENST00000591462.1_Missense_Mutation_p.Q195H	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	195					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AGCAGCACCAGAAGCTGTGGG	0.562000													5	5					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156899116	156899116	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:156899116G>A	ENST00000337428.7	+	10	1195	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	347										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCGTGAGAAGAGTCAGATGG	0.537000													12	6					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645742	51645742	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:51645742G>A	ENST00000317643.6	+	1	185	c.116G>A	c.(115-117)gGc>gAc	p.G39D	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G39D|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.G39D	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	39	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GTGCAAGAGGGCATGTGTGTC	0.577000													3	50					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315196	22315196	+	RNA	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:22315196C>G	ENST00000390434.3	+	0	359																											TGCAACTACTCATCTTCTTAT	0.537000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	8					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819898	110819898	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:110819898G>A	ENST00000282356.4	+	11	1554	c.1156G>A	c.(1156-1158)Gca>Aca	p.A386T	CAMK4_ENST00000512453.1_Missense_Mutation_p.A386T|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	386					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)		GGCCCAAGCCGCAGTTAAGGG	0.512000													12	17					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113135451	113135451	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:113135451G>A	ENST00000393845.2	-	6	660	c.594C>T	c.(592-594)ttC>ttT	p.F198F	WDR52_ENST00000295868.2_Silent_p.F198F|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	198										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAGCTACTGTGAAATAAGTTT	0.313000													8	12					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97278384	97278384	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:97278384G>C	ENST00000609116.1	+	12	1370	c.1288G>C	c.(1288-1290)Gat>Cat	p.D430H	PTBP2_ENST00000370198.1_Missense_Mutation_p.D435H|PTBP2_ENST00000370197.1_Missense_Mutation_p.D435H|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.D430H|PTBP2_ENST00000394184.3_Missense_Mutation_p.D446H			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GCTAACAAAAGATTTTGGTAA	0.383000													31	23					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55266634	55266634	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:55266634A>T	ENST00000340465.2	+	9	1254	c.1168A>T	c.(1168-1170)Ata>Tta	p.I390L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	390						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCGATCCAAATACCTGGAGA	0.353000													14	21					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055314	103055314	+	Silent	SNP	C	C	T	rs146360442	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:103055314C>T	ENST00000262457.2	+	14	2960	c.2775C>T	c.(2773-2775)cgC>cgT	p.R925R	INVS_ENST00000262456.2_Silent_p.R755R|INVS_ENST00000541287.1_Silent_p.R829R	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	925	IQ 2.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TCATCCAGCGCGCCTGGCGAA	0.498000													4	30					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347196	156347196	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:156347196G>T	ENST00000400992.2	+	3	453	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.A98S|RHBG_ENST00000451864.2_Missense_Mutation_p.A29S|RHBG_ENST00000255013.3_Missense_Mutation_p.A29S|RHBG_ENST00000368249.1_Missense_Mutation_p.A98S			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	98					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)					CCTCCTGGCCGCCTTTGCCCT	0.627000													21	147					7.41877e-09	8.02427e-09	1	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102551192	102551192	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:102551192C>A	ENST00000334701.7	-	6	1454	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K90N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K269N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	269					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	caccatccttcttttcttctt	0.383000													4	16					0.00909568	0.00926538	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240668	3240668	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:3240668C>T	ENST00000217939.6	-	5	3212	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1020						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATAGTAGAATCCTCAAATAAC	0.453000													20	55					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389928	158389928	+	Silent	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:158389928A>G	ENST00000314902.2	-	1	728	c.729T>C	c.(727-729)tcT>tcC	p.S243S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TAATGAGGTGAGATACACAGG	0.443000													12	89					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118539081	118539081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:118539081C>T	ENST00000311085.8	+	33	7893	c.7813C>T	c.(7813-7815)Cag>Tag	p.Q2605*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.Q2605*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2605										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAAGAAATTCAGGAAACCTT	0.338000													17	44					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353050	219353050	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:219353050C>G	ENST00000258399.3	-	15	1979	c.1567G>C	c.(1567-1569)Gat>Cat	p.D523H	USP37_ENST00000454775.1_Missense_Mutation_p.D523H|USP37_ENST00000415516.1_Missense_Mutation_p.D451H|USP37_ENST00000418019.1_Missense_Mutation_p.D523H	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	523					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)		TCAAGAGAATCTTGAATTGAA	0.318000													21	36					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433159	55433159	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:55433159G>T	ENST00000314259.3	+	1	546	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAATATCATAGATCACTTTAT	0.458000													23	151					3.10358e-05	3.23883e-05	1	1	0
NCAPH	23397	broad.mit.edu	37	2	97007492	97007492	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:97007492C>T	ENST00000455200.1	+	2	394	c.99C>T	c.(97-99)ctC>ctT	p.L33L	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Silent_p.L44L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	44					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGGCGCCTCTCAATATTCCTG	0.572000													25	92					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813717	49813717	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:49813717G>C	ENST00000454748.3	-	3	667	c.466C>G	c.(466-468)Ctt>Gtt	p.L156V	SLC6A16_ENST00000335875.4_Missense_Mutation_p.L156V			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	156						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGGAAGAGAAGAGGAACCCCG	0.532000													8	7					0	0	1	0	0
TRPT1	83707	broad.mit.edu	37	11	63991396	63991396	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63991396C>G	ENST00000394546.2	-	8	933	c.720G>C	c.(718-720)caG>caC	p.Q240H	TRPT1_ENST00000546133.1_Missense_Mutation_p.Q96H|TRPT1_ENST00000546089.1_Missense_Mutation_p.Q152H|TRPT1_ENST00000394547.3_Missense_Mutation_p.Q189H|TRPT1_ENST00000541278.1_Missense_Mutation_p.Q201H|TRPT1_ENST00000317459.6_Missense_Mutation_p.Q238H	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	238							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						TGGGGCTACTCTGACACTCTG	0.398000													5	27					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74563775	74563775	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:74563775C>G	ENST00000253159.8	+	3	435	c.237C>G	c.(235-237)ttC>ttG	p.F79L	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.F81L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	79					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGTTGAATTCAACCTGACAC	0.433000													8	22					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624387	31624387	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:31624387C>T	ENST00000375916.3	+	2	749	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	APOM_ENST00000375918.2_Missense_Mutation_p.R13C|APOM_ENST00000375920.4_Missense_Mutation_p.R13C	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	85					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GCTCCACCTTCGTGCTACCAT	0.552000													11	171					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33060745	33060745	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:33060745C>T	ENST00000286835.7	-	16	2300	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	SCAF4_ENST00000399804.1_Missense_Mutation_p.E640K|SCAF4_ENST00000434667.3_Missense_Mutation_p.E625K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	640						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGCAACTTCATTTTCAGGC	0.398000													16	55					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42809037	42809037	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:42809037G>A	ENST00000398600.2	+	9	1419	c.394G>A	c.(394-396)Gag>Aag	p.E132K	MX1_ENST00000455164.2_Missense_Mutation_p.E132K|MX1_ENST00000288383.6_Missense_Mutation_p.E109K|MX1_ENST00000398598.3_Missense_Mutation_p.E132K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	132					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTACGAGATTGAGATTTCGGA	0.478000													15	42					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120720270	120720270	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:120720270G>A	ENST00000263708.2	+	24	3130	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	PTPN4_ENST00000544261.1_Missense_Mutation_p.E420K	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	787	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCACTCTGAAGAAGGAAACAC	0.393000													20	48					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50051831	50051831	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:50051831G>A	ENST00000371564.3	-	8	2145	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	NFATC2_ENST00000610033.1_Silent_p.I423I|NFATC2_ENST00000609943.1_Silent_p.I622I|NFATC2_ENST00000396009.3_Silent_p.I642I|NFATC2_ENST00000609507.1_Silent_p.I423I|NFATC2_ENST00000414705.1_Silent_p.I622I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	642					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATATTCAGGGATCTCAACAA	0.453000													28	116					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037875	75037875	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:75037875C>T	ENST00000326665.5	-	14	3737	c.3519G>A	c.(3517-3519)ctG>ctA	p.L1173L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1173	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTTTCCTCAGAGCTGTTA	0.483000													41	60					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245999	73245999	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:73245999G>A	ENST00000435050.1	+	2	3148	c.468G>A	c.(466-468)caG>caA	p.Q156Q	CLDN4_ENST00000340958.2_Silent_p.Q156Q|CLDN4_ENST00000431918.1_Silent_p.Q156Q			O14493	CLD4_HUMAN	claudin 4	156					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CCTCCGGGCAGAAGCGGGAGA	0.647000													11	19					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33395079	33395079	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:33395079C>T	ENST00000539936.1	-	3	379	c.141G>A	c.(139-141)atG>atA	p.M47I	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	47					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACTCACCATCATGACATATG	0.567000													3	42					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:154956263C>G	ENST00000368433.1	+	1	436	c.93C>G	c.(91-93)ctC>ctG	p.L31L	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000292180.3_Silent_p.L31L			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	31					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.L31L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552000													9	130					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932807	153932807	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:153932807A>T	ENST00000368623.3	-	3	1501	c.742T>A	c.(742-744)Tgc>Agc	p.C248S	SLC39A1_ENST00000368621.1_Missense_Mutation_p.C248S|SLC39A1_ENST00000310483.6_Missense_Mutation_p.C248S|SLC39A1_ENST00000356205.4_Missense_Mutation_p.C248S|SLC39A1_ENST00000537590.1_Missense_Mutation_p.C146S			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	248						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GGTGTCATGCATGAGAAGAGG	0.637000													41	12					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:132052131C>A	ENST00000286355.5	-	1	2541	c.449G>T	c.(448-450)cGa>cTa	p.R150L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R150L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R150Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577000										HNSCC(32;0.087)			5	52					0.184627	0.185716	1	1	0
PTHLH	5744	broad.mit.edu	37	12	28116560	28116560	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:28116560G>C	ENST00000535992.1	-	3	591	c.245C>G	c.(244-246)tCc>tGc	p.S82C	PTHLH_ENST00000395868.3_Missense_Mutation_p.S82C|PTHLH_ENST00000539239.1_Missense_Mutation_p.S82C|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.S82C|PTHLH_ENST00000538310.1_Missense_Mutation_p.S82C|PTHLH_ENST00000395872.1_Missense_Mutation_p.S82C|PTHLH_ENST00000354417.3_Missense_Mutation_p.S82C|PTHLH_ENST00000545234.1_Missense_Mutation_p.S82C			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	82					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AGAGGGCTTGGAGTTAGGGGA	0.498000													26	39					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139229830	139229830	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:139229830G>C	ENST00000450536.2	-	18	2765	c.2191C>G	c.(2191-2193)Ctt>Gtt	p.L731V	REPS1_ENST00000415951.2_Missense_Mutation_p.L672V|REPS1_ENST00000409812.2_Missense_Mutation_p.L640V|REPS1_ENST00000367663.4_Missense_Mutation_p.L704V|REPS1_ENST00000258062.5_Missense_Mutation_p.L730V			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	731	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGTGATGCAAGAACAGCAGCT	0.378000													20	93					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29665042	29665042	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29665042G>T	ENST00000444181.2	+	2	87	c.83G>T	c.(82-84)aGa>aTa	p.R28I	NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000358273.4_Splice_Site			P21359	NF1_HUMAN	neurofibromin 1	2235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAATTGCAGATTTGCATTC	0.318000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			58	49					9.53978e-28	1.07441e-27	1	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30879020	30879020	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:30879020C>A	ENST00000251071.5	-	9	2535	c.1785G>T	c.(1783-1785)gtG>gtT	p.V595V	CAPRIN2_ENST00000417045.1_Silent_p.V595V|CAPRIN2_ENST00000395805.2_Silent_p.V595V|CAPRIN2_ENST00000298892.5_Silent_p.V595V|CAPRIN2_ENST00000308433.5_Silent_p.V262V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	595				V -> A (in Ref. 4; BAB13830).	negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGCTTAGGCACCTACAAGA	0.398000													15	33					3.27435e-08	3.52484e-08	1	1	0
CLCA4	22802	broad.mit.edu	37	1	87038347	87038347	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:87038347G>A	ENST00000370563.3	+	9	1453	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	CLCA4_ENST00000263723.5_Missense_Mutation_p.D184N|RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	471	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGGCCTCATTGATGCTTTTGG	0.383000													13	53					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222700	83222700	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:83222700G>T	ENST00000563800.1	-	6	2707	c.982C>A	c.(982-984)Ccc>Acc	p.P328T	CPEB1_ENST00000562019.1_Missense_Mutation_p.P301T|CPEB1_ENST00000398591.2_Missense_Mutation_p.P226T|CPEB1_ENST00000398592.2_Missense_Mutation_p.P75T|CPEB1_ENST00000261723.6_Missense_Mutation_p.P304T|CPEB1_ENST00000564522.1_Missense_Mutation_p.P226T|CPEB1_ENST00000568128.1_Missense_Mutation_p.P301T|CPEB1_ENST00000450751.2_Missense_Mutation_p.P226T|CPEB1_ENST00000423133.2_Missense_Mutation_p.P226T|RP11-152F13.10_ENST00000562833.1_Silent_p.L35L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.P226T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	301	RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGTTCCGGGGAGGAAGCTGG	0.478000													10	18					2.17888e-05	2.27731e-05	1	1	0
SVIL	6840	broad.mit.edu	37	10	29747416	29747416	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:29747416C>G	ENST00000375398.2	-	39	6954	c.6505G>C	c.(6505-6507)Gag>Cag	p.E2169Q	PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1743Q|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2169Q|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E1083Q			O95425	SVIL_HUMAN	supervillin	2169	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCGACCCCCTCCGGGAGTGGC	0.557000													16	15					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148604989	148604989	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:148604989G>A	ENST00000322396.6	-	1	392	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	50						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGCTGAGCACGAGGAGGTAGT	0.587000													39	18					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56739938	56739938	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:56739938G>C	ENST00000314128.4	-	22	2117	c.2094C>G	c.(2092-2094)gtC>gtG	p.V698V	STAT2_ENST00000557235.1_Silent_p.V694V|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	698					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTATTAGAGACCACAATGA	0.448000													23	19					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624274	32624274	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:32624274C>T	ENST00000286827.3	-	6	1666	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	TIAM1_ENST00000541036.1_Missense_Mutation_p.E399K|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	399					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCAGGCTCTCGCTGTTGGTG	0.692000													21	15					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50785037	50785037	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:50785037T>C	ENST00000433963.1	+	16	2874	c.2374T>C	c.(2374-2376)Ttg>Ctg	p.L792L	USP8_ENST00000307179.4_Silent_p.L792L|USP8_ENST00000396444.3_Silent_p.L792L|USP8_ENST00000425032.3_Silent_p.L686L			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	792					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAACTCAATATTGCAGTGCCT	0.378000													54	47					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224763	57224763	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:57224763C>T	ENST00000522671.1	-	3	1149	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SDR16C5_ENST00000396721.2_Intron|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E140K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	140					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCCATAAGCTCATCTGGACAG	0.348000													26	70					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086309	126086309	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:126086309G>C	ENST00000339582.2	-	10	3356	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E	GRM8_ENST00000358373.3_Missense_Mutation_p.Q850E|GRM8_ENST00000444921.2_Missense_Mutation_p.Q850E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	850					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTGCGTTTTTGAACATTCTGT	0.418000										HNSCC(24;0.065)			16	57					0	0	1	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065319	13065319	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:13065319G>A	ENST00000316939.1	-	2	395	c.372C>T	c.(370-372)tgC>tgT	p.C124C		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	124					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCTTGGCCATGCACTCTGCGA	0.627000													17	31					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814953	2814953	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2814953G>C	ENST00000301740.8	+	11	4973	c.4424G>C	c.(4423-4425)aGa>aCa	p.R1475T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1475	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACGCCATCTAGAGGGAGAAGC	0.537000													15	109					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30721175	30721175	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:30721175G>A	ENST00000262518.4	+	8	1245	c.860G>A	c.(859-861)gGg>gAg	p.G287E	SRCAP_ENST00000344771.4_Missense_Mutation_p.G287E|SRCAP_ENST00000395059.2_Missense_Mutation_p.G287E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	287					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTATAGATGGGGACTTTCAA	0.512000													4	10					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23191746	23191746	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:23191746G>C	ENST00000339077.5	+	7	1097	c.854G>C	c.(853-855)aGa>aCa	p.R285T	KLHL7_ENST00000542558.1_Missense_Mutation_p.R60T|KLHL7_ENST00000322231.7_Missense_Mutation_p.R263T|KLHL7_ENST00000545443.1_Missense_Mutation_p.R263T|KLHL7_ENST00000409689.1_Missense_Mutation_p.R237T|KLHL7_ENST00000539124.1_Missense_Mutation_p.R209T	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATGGCACAAGACCTAGAAGA	0.418000													12	59					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16942783	16942783	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:16942783G>C	ENST00000318063.5	+	6	775	c.733G>C	c.(733-735)Gac>Cac	p.D245H		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		CAACATGTTTGACACTGATGG	0.323000													10	37					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507267	74507267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:74507267G>A	ENST00000354431.4	-	7	1539	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.R450*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	450										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTCTTTCTCGAGCAACTTGT	0.318000													52	65					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113304929	113304929	+	Silent	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:113304929A>G	ENST00000297405.5	-	55	8869	c.8625T>C	c.(8623-8625)tgT>tgC	p.C2875C	CSMD3_ENST00000352409.3_Silent_p.C2805C|CSMD3_ENST00000343508.3_Silent_p.C2835C|CSMD3_ENST00000455883.2_Silent_p.C2706C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2875	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTGACCACAGCTAACAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	48					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876235	39876235	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:39876235G>A	ENST00000530275.1	+	0	85				MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754											central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATAATATTTGATGCACTAAA	0.443000													61	31					0	0	1	0	0
ADO	84890	broad.mit.edu	37	10	64564918	64564918	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:64564918C>G	ENST00000373783.1	+	1	403	c.99C>G	c.(97-99)cgC>cgG	p.R33R	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	33							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTTCCGATCGCGACGCGGCTT	0.701000													3	6					0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247217	38247217	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:38247217G>C	ENST00000009041.7	+	2	369	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	STARD3NL_ENST00000396013.1_Missense_Mutation_p.E38Q|STARD3NL_ENST00000434197.1_Missense_Mutation_p.E38Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.E31Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	38						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GGCCAGGATTGAGTCCTATGA	0.478000													40	82					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151502	158151502	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:158151502C>T	ENST00000368171.3	+	3	818	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	107					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAAATGCTACGCTTATCCTG	0.552000													15	55					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1326625	1326625	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:1326625C>G	ENST00000303400.4	+	6	800	c.737C>G	c.(736-738)cCg>cGg	p.P246R	MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Silent_p.P179P|MAEA_ENST00000505839.1_Missense_Mutation_p.P198R|MAEA_ENST00000510794.1_Missense_Mutation_p.P245R|MAEA_ENST00000264750.6_Missense_Mutation_p.P205R|MAEA_ENST00000505177.2_Missense_Mutation_p.P284R|MAEA_ENST00000452175.2_Missense_Mutation_p.P167R	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	246					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTGGCCTTCCCGCCCGACACG	0.602000													3	10					0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26684894	26684894	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:26684894G>C	ENST00000292114.3	+	1	291	c.201G>C	c.(199-201)ctG>ctC	p.L67L	TMEM199_ENST00000509083.1_Silent_p.L67L|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	67						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCAGCATCTGAGAGAAAGGG	0.587000													23	25					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6541240	6541240	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:6541240G>A	ENST00000254579.6	+	9	2257	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	DNHD1_ENST00000354685.3_Missense_Mutation_p.D565N|DNHD1_ENST00000527990.2_Missense_Mutation_p.D565N	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	565					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTCTTTGATGATCATGGTCA	0.473000													74	12					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29404523	29404523	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:29404523C>G	ENST00000320081.5	+	16	2137	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q628E|CLIP4_ENST00000401617.2_Missense_Mutation_p.Q521E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	628										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGAGGGGTCTCAGGTCCTGCT	0.582000													8	53					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37379221	37379221	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:37379221A>G	ENST00000361924.2	+	19	6766	c.6392A>G	c.(6391-6393)gAa>gGa	p.E2131G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2146G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2131					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGTTCAGAGAACAGGTACAG	0.343000													9	79					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:189918184C>T	ENST00000374866.3	-	38	2793	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	840					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGTTGGCCCATTTTCACC	0.343000													8	31					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172400	78172400	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:78172400T>A	ENST00000369947.2	-	1	1090	c.721A>T	c.(721-723)Aaa>Taa	p.K241*		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	241					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCGTCTGTTTCAAAATCCGG	0.607000													3	16					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133995636	133995636	+	Missense_Mutation	SNP	C	C	A	rs114087638	by1000genomes	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:133995636C>A	ENST00000220616.4	+	35	6281	c.6241C>A	c.(6241-6243)Ctg>Atg	p.L2081M	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.L451M|TG_ENST00000377869.1_Missense_Mutation_p.L2024M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2081					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTGGTTGTTCTGCCTTCCCT	0.423000													32	180					2.40579e-17	2.69393e-17	1	1	0
PRR22	163154	broad.mit.edu	37	19	5783359	5783359	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5783359G>C	ENST00000419421.2	-	3	1003	c.899C>G	c.(898-900)tCt>tGt	p.S300C		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	298										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CTCAGGCTCAGAGGCGCCTGG	0.662000													23	11					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732932	52732932	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:52732932C>G	ENST00000360540.5	-	7	1459	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	PCMTD1_ENST00000544451.1_Missense_Mutation_p.L275F|PCMTD1_ENST00000522514.1_Missense_Mutation_p.L351F|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	351						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TAAAATATGTCAAGTAAGCTT	0.348000													8	86					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078830	27078830	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:27078830G>C	ENST00000263182.3	+	4	670	c.302G>C	c.(301-303)aGa>aCa	p.R101T	BBOX1_ENST00000525090.1_Missense_Mutation_p.R101T|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Missense_Mutation_p.R101T|BBOX1_ENST00000529202.1_Missense_Mutation_p.R101T|RP11-1L12.3_ENST00000526061.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	101					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AAGCAGGCCAGAGCAAAGCTC	0.378000													123	60					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050816	84050816	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:84050816G>A	ENST00000299709.3	-	7	881	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	294					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCACAATGATGACCATATCAT	0.547000													13	13					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82783597	82783597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:82783597G>T	ENST00000248306.3	+	3	496	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		TTCATTAGGTGAAAATCAGAA	0.289000													5	81					0.184627	0.185716	1	1	0
UTP18	51096	broad.mit.edu	37	17	49371317	49371317	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:49371317G>A	ENST00000225298.7	+	12	1614	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	519					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTAAAAATAAGAATATTTCTC	0.373000													13	40					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339307	116339307	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:116339307C>G	ENST00000397752.3	+	2	369	c.169C>G	c.(169-171)Cta>Gta	p.L57V	MET_ENST00000436117.2_Missense_Mutation_p.L57V|MET_ENST00000318493.6_Missense_Mutation_p.L57V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	57	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAATGTCATTCTACATGAGCA	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				34	37					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27224562	27224562	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:27224562C>T	ENST00000394906.2	-	1	108	c.31G>A	c.(31-33)Gag>Aag	p.E11K	FLOT2_ENST00000585169.1_Missense_Mutation_p.E11K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.E11K			Q14254	FLOT2_HUMAN	flotillin 2	11					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCAGCGCCTCGTTGGGCCCC	0.721000													7	4					0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75199049	75199049	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:75199049G>A	ENST00000370867.3	+	1	210	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TYW3_ENST00000421739.2_Missense_Mutation_p.D41N|CRYZ_ENST00000417775.1_5'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.D41N|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	41					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAACATGCGAGATCAGTTTTT	0.567000													9	12					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748714	64748714	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:64748714C>T	ENST00000536360.1	-	5	1476	c.663G>A	c.(661-663)ctG>ctA	p.L221L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	221					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGTGTCATTCAGCCACCAAG	0.358000													7	5					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296372	20296372	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:20296372C>G	ENST00000315947.1	+	1	765	c.765C>G	c.(763-765)atC>atG	p.I255M	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACCTGGCATCTTCATCTACA	0.458000													19	139					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11180271	11180271	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:11180271G>C	ENST00000221086.3	+	10	2097	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	MTMR9_ENST00000526292.1_Missense_Mutation_p.E457Q|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	542						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACTGGAAACAGAGGACGGGAT	0.473000													17	17					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	899304	899304	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:899304G>C	ENST00000338591.3	+	9	1467	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	454	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCACAGTGCTGAACGCTACGA	0.657000													45	45					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43438026	43438026	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:43438026C>G	ENST00000282041.5	-	42	7268	c.7234G>C	c.(7234-7236)Gag>Cag	p.E2412Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2412					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCCTCTTCCTCCACGGAGCTA	0.473000													13	8					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129321	248129321	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:248129321C>G	ENST00000366480.3	+	1	787	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTAGCCATTCTGGCTTCCTA	0.473000													21	3					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1779282	1779282	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:1779282C>T	ENST00000381312.1	-	1	388	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	21					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTCTTGGACTTGCATTTGA	0.701000													6	45					0	0	1	0	0
AKIRIN1	79647	broad.mit.edu	37	1	39466745	39466745	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:39466745G>C	ENST00000432648.3	+	3	621	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	AKIRIN1_ENST00000372984.4_Missense_Mutation_p.E108Q|AKIRIN1_ENST00000446189.2_Intron	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	155						nucleus				lung(1)|prostate(1)|skin(1)	3						AATTCGGGAGGAGTATGAGCA	0.423000													21	56					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36766618	36766618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:36766618C>G	ENST00000354618.5	+	10	2659	c.2435C>G	c.(2434-2436)tCa>tGa	p.S812*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S812*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGACAAATCAAGACTGGGG	0.517000			T	USP6	aneurysmal bone cysts								6	19					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001260	11001260	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:11001260C>T	ENST00000324288.8	+	11	2044	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	637	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTCCACGCTCACGGGACTCT	0.692000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								4	22					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89759837	89759837	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:89759837C>A	ENST00000331006.8	+	7	2170	c.429C>A	c.(427-429)gtC>gtA	p.V143V	CDK10_ENST00000353379.7_Silent_p.V190V|CDK10_ENST00000505473.1_Silent_p.V119V			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	190	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCTATGGTGTCCCAGTAAAGC	0.617000													6	13					3.09899e-07	3.30478e-07	1	1	0
CDC16	8881	broad.mit.edu	37	13	115010387	115010387	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:115010387C>T	ENST00000360383.3	+	9	988	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	CDC16_ENST00000375308.1_Missense_Mutation_p.H170Y|CDC16_ENST00000252458.6_Missense_Mutation_p.H170Y|CDC16_ENST00000375310.1_Missense_Mutation_p.H170Y|CDC16_ENST00000375312.3_Missense_Mutation_p.H170Y|CDC16_ENST00000252457.5_Missense_Mutation_p.H263Y|CDC16_ENST00000356221.3_Missense_Mutation_p.H264Y	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGATCCTTTCCATGCAAGTTG	0.393000													30	38					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952135	14952135	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:14952135G>C	ENST00000248058.1	-	1	554	c.555C>G	c.(553-555)gtC>gtG	p.V185V		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCAAGGTGGACCACCTGAT	0.448000													7	39					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412266	43412266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:43412266G>A	ENST00000310826.5	-	3	2122	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.Q647*|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.Q647*	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTCTGTCCCTGAAAACCAGGC	0.448000													11	44					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156502824	156502824	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:156502824C>T	ENST00000361170.2	-	32	4061	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1351					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTAGTCCTTCAAACTTGTTG	0.582000													41	119					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116438	28116438	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:28116438C>T	ENST00000535992.1	-	3	713	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	PTHLH_ENST00000395868.3_Missense_Mutation_p.G123R|PTHLH_ENST00000539239.1_Missense_Mutation_p.G123R|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.G123R|PTHLH_ENST00000538310.1_Missense_Mutation_p.G123R|PTHLH_ENST00000395872.1_Missense_Mutation_p.G123R|PTHLH_ENST00000354417.3_Missense_Mutation_p.G123R|PTHLH_ENST00000545234.1_Missense_Mutation_p.G123R			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	123					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TTTTTCTTCCCAGGTGTCTTG	0.527000													16	47					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217868	26217868	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:26217868G>A	ENST00000405154.2	+	3	740	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RASSF8_ENST00000542865.1_Missense_Mutation_p.E181K|RASSF8_ENST00000381352.3_Missense_Mutation_p.E181K|RASSF8_ENST00000282884.9_Missense_Mutation_p.E181K|RASSF8_ENST00000541490.1_Missense_Mutation_p.E181K	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	181	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCAATCCATTGAGAAACAGCT	0.373000													11	20					0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841314	16841314	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:16841314G>A	ENST00000419304.2	-	2	259	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AGR2_ENST00000401412.1_Missense_Mutation_p.S36F|AGR2_ENST00000419572.2_Missense_Mutation_p.S56F	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	36					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TTTGGGTCGAGAGTCCTTTGT	0.498000													16	68					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74438391	74438391	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:74438391C>A	ENST00000394053.2	+	6	816	c.736C>A	c.(736-738)Ctt>Att	p.L246I	MTHFD2_ENST00000409601.1_Missense_Mutation_p.L205I|MTHFD2_ENST00000394050.3_Missense_Mutation_p.L82I|MTHFD2_ENST00000264090.4_Missense_Mutation_p.L144I|MTHFD2_ENST00000409804.1_Missense_Mutation_p.L118I	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	246					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACATACAATTCTTGCAGATAT	0.403000													42	94					1.00953e-15	1.12582e-15	1	1	0
CA5B	11238	broad.mit.edu	37	X	15768238	15768238	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:15768238C>T	ENST00000318636.3	+	2	228	c.92C>T	c.(91-93)gCg>gTg	p.A31V	CA5B_ENST00000454127.2_Missense_Mutation_p.A31V|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	31					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TTCATGCCAGCGAGGCCCTGC	0.498000													33	77					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64219816	64219816	+	Splice_Site	SNP	G	G	C	rs141252899		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:64219816G>C	ENST00000205948.6	-	4	452	c.415C>G	c.(415-417)Ccc>Gcc	p.P139A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	139	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACAGACTTACGAGCACAGACA	0.468000													11	67					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30914453	30914453	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:30914453T>A	ENST00000597505.1	-	34	4984	c.4985A>T	c.(4984-4986)aAg>aTg	p.K1662M	DCDC1_ENST00000406071.2_Missense_Mutation_p.K400M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTGGGCTGCTTATACAGGTT	0.418000													4	104					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651253	207651253	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:207651253G>T	ENST00000367057.3	+	16	3115	c.2926G>T	c.(2926-2928)Gat>Tat	p.D976Y	CR2_ENST00000367059.3_Missense_Mutation_p.D855Y|CR2_ENST00000367058.3_Missense_Mutation_p.D917Y|CR2_ENST00000458541.2_Missense_Mutation_p.D890Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	917					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTCACCAGCAGATATGGATGG	0.403000													6	12					0.0215528	0.0218895	1	1	0
CDHR3	222256	broad.mit.edu	37	7	105645021	105645021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:105645021G>T	ENST00000542731.1	+	8	1048	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	CDHR3_ENST00000343407.5_Nonsense_Mutation_p.E31*|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000317716.9_Nonsense_Mutation_p.E314*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.E226*			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	314	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CATTTCCCTGGAAGTTCTAGT	0.473000													4	14					1.23904e-05	1.298e-05	1	1	0
SPRR1A	6698	broad.mit.edu	37	1	152957769	152957769	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:152957769G>A	ENST00000307122.2	+	2	127	c.63G>A	c.(61-63)gtG>gtA	p.V21V	SPRR1A_ENST00000368762.1_Silent_p.V21V	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	21	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCAGCAGGTGAAACAACCTT	0.567000													124	47					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29167722	29167722	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29167722G>A	ENST00000321990.4	+	4	2542	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	722					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGGTGACTGAAGAAATAGC	0.338000													18	106					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767244	77767244	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:77767244C>G	ENST00000521891.2	+	10	8535	c.8087C>G	c.(8086-8088)tCt>tGt	p.S2696C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2651C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2651C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2670C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2651						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACATTCGCTCTCGGCACTGG	0.527000										HNSCC(33;0.089)			10	53					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220244	48220244	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:48220244C>G	ENST00000263277.3	+	2	626	c.375C>G	c.(373-375)ctC>ctG	p.L125L	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	125					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCCGCAAACTCAACCCTTTCG	0.587000													8	28					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007158	56007158	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:56007158G>T	ENST00000429591.2	+	4	790	c.752G>T	c.(751-753)gGg>gTg	p.G251V	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTGAGTGTGGGAAGGCCTTC	0.428000													7	57					0.0293803	0.0297951	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103006287	103006287	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:103006287C>T	ENST00000375735.2	+	16	2413	c.2269C>T	c.(2269-2271)Ctg>Ttg	p.L757L	DYNC2H1_ENST00000398093.3_Silent_p.L757L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	757	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTACAAAGCTCTGGAGCATCA	0.338000													14	14					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443478	5443478	+	Silent	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:5443478C>A	ENST00000300778.4	+	1	138	c.48C>A	c.(46-48)ctC>ctA	p.L16L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCATCCTCACGGACATCC	0.493000													20	31					3.99206e-14	4.41943e-14	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89449490	89449490	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:89449490G>C	ENST00000399794.2	-	3	735	c.20C>G	c.(19-21)cCa>cGa	p.P7R	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P7R|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	7							nucleotide binding|RNA binding										GAGCTTTCCTGGGCGATCTGC	0.468000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	174					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399820	179399820	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:179399820G>A	ENST00000589042.1	-	358	101746	c.101522C>T	c.(101521-101523)tCa>tTa	p.S33841L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24968L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24901L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24776L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32200L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31273L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32200	Ig-like 149.						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)			TGTCTTCTTTGAGGATGTTTC	0.383000													21	48					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48797096	48797096	+	Translation_Start_Site	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:48797096G>C	ENST00000505658.1	+	1	192	c.3G>C	c.(1-3)atG>atC	p.M1I	LUC7L3_ENST00000311571.3_Start_Codon_SNP_p.M1I|LUC7L3_ENST00000393227.2_Start_Codon_SNP_p.M1I|LUC7L3_ENST00000544170.1_5'UTR|LUC7L3_ENST00000240304.1_Start_Codon_SNP_p.M1I			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	1					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GAAGCACCATGATTTCGGCCG	0.647000													5	9					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73321993	73321993	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:73321993G>C	ENST00000392562.1	-	4	1067	c.285C>G	c.(283-285)ttC>ttG	p.F95L	GRB2_ENST00000578961.1_Missense_Mutation_p.F95L|GRB2_ENST00000392564.1_Missense_Mutation_p.F95L|GRB2_ENST00000316615.5_Intron|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Intron|GRB2_ENST00000316804.5_Missense_Mutation_p.F95L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	95	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CAGAGAGGGAGAAGTCCCCAG	0.522000													10	69					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7091056	7091056	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:7091056G>T	ENST00000261407.4	-	4	461	c.376C>A	c.(376-378)Ctg>Atg	p.L126M		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	126					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TATCCAGCCAGAAGGTAGGCC	0.428000													10	4					7.03913e-09	7.61967e-09	1	1	0
COPA	1314	broad.mit.edu	37	1	160268719	160268719	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:160268719C>T	ENST00000241704.7	-	19	2122	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	COPA_ENST00000368069.3_Silent_p.K640K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	631					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATAGCCCTTCTTCTGGAGAT	0.463000													10	119					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515473	51515473	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:51515473C>T	ENST00000328188.1	+	1	192	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGCCTATCTCTCCTTTATTG	0.478000													68	85					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6150658	6150658	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:6150658G>A	ENST00000446108.1	+	6	1159	c.515G>A	c.(514-516)gGa>gAa	p.G172E	RBM17_ENST00000379888.4_Missense_Mutation_p.G172E	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	172					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GGTATGGGCGGAGCTGCCATT	0.463000											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389175	160389175	+	Silent	SNP	C	C	T	rs145717286		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:160389175C>T	ENST00000368061.2	+	4	1050	c.576C>T	c.(574-576)ctC>ctT	p.L192L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	192					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCCTGCTCGTGGTCTCCT	0.647000													16	126					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44149182	44149182	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:44149182C>T	ENST00000263795.6	+	10	1300	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	WDR76_ENST00000381246.2_Silent_p.D346D	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	410										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCTCCTTCGACTTCTTGGCAG	0.383000													6	38					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681910	55681910	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:55681910C>T	ENST00000344514.1	-	1	148	c.149G>A	c.(148-150)aGa>aAa	p.R50K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTAATCCATTCTGATTAAAAC	0.378000													12	34					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704088	52704088	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:52704088C>G	ENST00000287727.3	+	4	1171	c.999C>G	c.(997-999)ctC>ctG	p.L333L	ZFYVE9_ENST00000357206.2_Silent_p.L333L|ZFYVE9_ENST00000371591.1_Silent_p.L333L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	333					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGAATCCCTCCGGTCTGGTT	0.468000													15	52					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2026926	2026926	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:2026926C>T	ENST00000568546.1	+	14	1532	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	468					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCCTATCCTCCTGCAGGCCC	0.612000													4	21					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902387	129902387	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129902387C>T	ENST00000368654.3	-	13	8092	c.7717G>A	c.(7717-7719)Gaa>Aaa	p.E2573K	MKI67_ENST00000368653.3_Missense_Mutation_p.E2213K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2573	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)				ATTGACTCTTCAGTGTGACCT	0.488000													69	64					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25417159	25417159	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:25417159G>C	ENST00000315368.3	+	26	2040	c.1898G>C	c.(1897-1899)aGa>aCa	p.R633T	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R634T	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	633					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AAAGTCAGAAGAAGGTAAGTC	0.348000													9	29					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313213	50313213	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:50313213C>T	ENST00000418948.1	+	0	2017							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGTGAGCCCCGCTCGCTGCA	0.667000													6	3					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986104	89986104	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:89986104C>T	ENST00000555427.1	+	3	2741	c.438C>T	c.(436-438)atC>atT	p.I146I	TUBB3_ENST00000556922.1_Silent_p.I146I|MC1R_ENST00000555147.1_Silent_p.I146I					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACATCTCCATCTTCTACGCAC	0.627000									Melanoma, Familial Clustering of				11	17					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204938035	204938035	+	Missense_Mutation	SNP	G	G	C	rs150544095		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:204938035G>C	ENST00000367172.4	+	10	1256	c.928G>C	c.(928-930)Gac>Cac	p.D310H	NFASC_ENST00000339876.6_Missense_Mutation_p.D310H|NFASC_ENST00000403080.1_Missense_Mutation_p.D310H|NFASC_ENST00000513543.1_Missense_Mutation_p.D321H|NFASC_ENST00000367171.4_Missense_Mutation_p.D310H|NFASC_ENST00000360049.4_Missense_Mutation_p.D321H|NFASC_ENST00000401399.1_Missense_Mutation_p.D310H|NFASC_ENST00000404907.1_Missense_Mutation_p.D321H|NFASC_ENST00000404076.1_Missense_Mutation_p.D304H|NFASC_ENST00000367169.4_Missense_Mutation_p.D310H|NFASC_ENST00000367170.4_Missense_Mutation_p.D310H|NFASC_ENST00000338586.6_Missense_Mutation_p.D310H|NFASC_ENST00000539706.1_Missense_Mutation_p.D321H|NFASC_ENST00000338515.6_Missense_Mutation_p.D310H			O94856	NFASC_HUMAN	neurofascin	310	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCTGAGGAAGACTCCGGGGA	0.483000													6	12					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126869356	126869356	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:126869356G>C	ENST00000442138.2	+	6	945	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	PRRC1_ENST00000512635.2_Missense_Mutation_p.E267Q|PRRC1_ENST00000296666.8_Missense_Mutation_p.E267Q			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	267						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)		CTCAAATAAAGAAGTAAAAGT	0.393000													36	21					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6837032	6837032	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:6837032C>G	ENST00000596764.1	+	20	1935	c.1855C>G	c.(1855-1857)Cct>Gct	p.P619A	VAV1_ENST00000539284.1_Missense_Mutation_p.P554A|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Missense_Mutation_p.P596A|VAV1_ENST00000602142.1_Missense_Mutation_p.P651A	NM_001258207.1	NP_001245136.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	651	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGCTGGTTTCCTTGTAACAG	0.493000													18	70					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659766	52659766	+	Silent	SNP	T	T	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:52659766T>G	ENST00000322146.8	-	5	1691	c.1170A>C	c.(1168-1170)atA>atC	p.I390I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.I390I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTTTCCACATATGTTGCATT	0.388000													11	42					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100390120	100390120	+	RNA	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:100390120G>A	ENST00000542585.1	+	0	7951				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_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)			TCCTCTGCCAGGAGGCGGGCG	0.682000													15	22					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101154234	101154234	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:101154234G>C	ENST00000428847.2	-	2	564	c.248C>G	c.(247-249)tCt>tGt	p.S83C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	83					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAAGCTACAAGATTTTAACTC	0.398000													27	108					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80548557	80548557	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:80548557G>C	ENST00000424301.2	+	4	434	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	CKMT2_ENST00000254035.4_Missense_Mutation_p.E66Q|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E66Q|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	66	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGCATGGCCGAGTGCCTCAC	0.622000													8	19					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71242943	71242943	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:71242943G>C	ENST00000418814.2	+	17	4470	c.3856G>C	c.(3856-3858)Gag>Cag	p.E1286Q	FAM135A_ENST00000505769.1_Missense_Mutation_p.E866Q|FAM135A_ENST00000361499.3_Missense_Mutation_p.E1090Q|FAM135A_ENST00000457062.2_Missense_Mutation_p.E1073Q|FAM135A_ENST00000505868.1_Missense_Mutation_p.E1286Q|FAM135A_ENST00000370479.3_Missense_Mutation_p.E1073Q	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1286										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCTTATGTCTGAGAGAAATCA	0.333000													8	25					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42264656	42264656	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:42264656C>T	ENST00000220325.4	-	1	120	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	13					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCAGCGCGTTCGCGCCCGCCC	0.731000													5	2					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56155208	56155208	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:56155208G>C	ENST00000508342.1	-	5	2133	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	NEDD4_ENST00000506154.1_Missense_Mutation_p.L596V|NEDD4_ENST00000338963.2_Missense_Mutation_p.L540V|NEDD4_ENST00000435532.3_Missense_Mutation_p.L193V	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	612	Mediates interaction with TNIK (By similarity).|WW 1.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTGGAGGTAGAGGAGAAGGT	0.463000													41	21					0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39462513	39462513	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:39462513C>A	ENST00000261434.3	+	2	267	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	LIAS_ENST00000381846.1_Missense_Mutation_p.S50Y|LIAS_ENST00000340169.2_Missense_Mutation_p.S50Y|LIAS_ENST00000513731.1_Missense_Mutation_p.S50Y|LIAS_ENST00000515061.1_3'UTR	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	50					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	GATTTTGTATCTGGTGATCTT	0.398000													69	69					6.5469e-37	7.39166e-37	1	1	0
NOV	4856	broad.mit.edu	37	8	120435264	120435264	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:120435264G>C	ENST00000259526.3	+	5	1193	c.966G>C	c.(964-966)aaG>aaC	p.K322N	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	322	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATAGTCAAGAAGCCAGTGA	0.552000													37	101					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307062	39307062	+	Silent	SNP	A	A	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:39307062A>G	ENST00000541347.1	-	2	1178	c.939T>C	c.(937-939)gcT>gcC	p.A313A	CX3CR1_ENST00000358309.3_Silent_p.A345A|CX3CR1_ENST00000542107.1_Silent_p.A313A|CX3CR1_ENST00000399220.2_Silent_p.A313A	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	313					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACACAGGACAGCCAGGCATT	0.478000													21	383					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8038730	8038730	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:8038730G>C	ENST00000407627.2	-	4	438	c.309C>G	c.(307-309)atC>atG	p.I103M	ELAVL1_ENST00000593807.1_Missense_Mutation_p.I103M|ELAVL1_ENST00000351593.5_Missense_Mutation_p.I130M|ELAVL1_ENST00000596459.1_Missense_Mutation_p.I103M	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	103					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGCGTCTTTGATCACCTCTG	0.552000													18	26					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544320	103544320	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:103544320C>A	ENST00000358392.2	-	3	699	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G128C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G128C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G128C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	128	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G128S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCAACACCAATTTGCTGA	0.378000													9	40					0.000673444	0.000691166	1	1	0
QSER1	79832	broad.mit.edu	37	11	32997919	32997919	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:32997919G>C	ENST00000399302.2	+	13	5442	c.5107G>C	c.(5107-5109)Gag>Cag	p.E1703Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E1464Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1703										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTAGGACAGGAGGAAATTGT	0.318000													21	83					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27464071	27464071	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:27464071C>T	ENST00000264705.4	+	37	5946	c.5784C>T	c.(5782-5784)tcC>tcT	p.S1928S	CAD_ENST00000403525.1_Silent_p.S1865S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1928	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATATCCTGTCCGTCCAGCAGT	0.592000													34	217					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62412051	62412051	+	Missense_Mutation	SNP	G	G	C	rs35623706		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:62412051G>C	ENST00000519846.1	+	7	1487	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	CLVS1_ENST00000325897.4_Missense_Mutation_p.E339Q|CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Missense_Mutation_p.E60Q			Q8IUQ0	CLVS1_HUMAN	clavesin 1	339					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTGAAACATGAGGAGAAGGG	0.498000													10	54					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718361	73718361	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:73718361C>G	ENST00000264448.6	+	10	9383	c.9272C>G	c.(9271-9273)tCg>tGg	p.S3091W	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3049W	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3091					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGTATCTTCGAGATCACTG	0.378000													23	60					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910026	57910026	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:57910026A>T	ENST00000366197.5	+	3	621	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.Q136L|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACCCAAAGCAGCAAATTGGA	0.448000													14	56					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35945046	35945046	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:35945046A>C	ENST00000490799.1	-	9	1461	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.F265V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.F370V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	370					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGAGCAGAAAGGAGCTCACC	0.423000													15	27					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11904179	11904179	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:11904179C>G	ENST00000405977.1	+	5	2059	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	BTBD3_ENST00000254977.3_Silent_p.L417L|BTBD3_ENST00000378226.2_Silent_p.L478L|BTBD3_ENST00000399006.2_Silent_p.L417L	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	478										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCAATGAACTCAGCTACTTTG	0.498000													9	29					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6711254	6711254	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:6711254C>A	ENST00000309577.6	-	4	473	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	CHD4_ENST00000357008.2_Missense_Mutation_p.D104Y|CHD4_ENST00000544484.1_Missense_Mutation_p.D101Y|CHD4_ENST00000544040.1_Missense_Mutation_p.D97Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	104					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCTCACTGTCTGAGCGCAGA	0.567000													3	24					0.004672	0.00477341	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115168462	115168462	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:115168462C>G	ENST00000393274.1	-	4	769	c.144G>C	c.(142-144)gtG>gtC	p.V48V	DENND2C_ENST00000393276.3_Silent_p.V48V|DENND2C_ENST00000393277.1_Silent_p.V48V	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	48										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTATATCTCACTCCAAAGT	0.398000													34	138					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714132	70714132	+	RNA	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:70714132C>T	ENST00000530196.1	-	0	386					NR_003951.1																						GTCTAGAAACCAAGAGCTTCT	0.502000													7	63					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113416527	113416527	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:113416527G>A	ENST00000392583.2	+	1	321	c.114G>A	c.(112-114)gtG>gtA	p.V38V	OAS2_ENST00000449768.2_Silent_p.V38V|OAS2_ENST00000342315.4_Silent_p.V38V|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	38	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACGAGATGGTGAACACCATCT	0.572000													15	16					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34302204	34302204	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:34302204C>G	ENST00000361162.6	-	11	1383	c.999G>C	c.(997-999)tcG>tcC	p.S333S	RBM39_ENST00000528062.3_Silent_p.S311S|RBM39_ENST00000407261.4_Silent_p.S176S|RBM39_ENST00000253363.6_Silent_p.S333S	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	333	Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.S333S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AACTAGCACTCGAAGCATCAG	0.418000													12	58					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50055611	50055611	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:50055611C>A	ENST00000376042.1	+	7	3700	c.3402C>A	c.(3400-3402)ttC>ttA	p.F1134L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F1134L|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1134					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAAATCTTCAGTTACATGA	0.398000													14	41					2.31682e-05	2.41963e-05	1	1	0
ERCC5	2073	broad.mit.edu	37	13	103498694	103498694	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:103498694C>G	ENST00000355739.4	+	1	1501	c.78C>G	c.(76-78)atC>atG	p.I26M	BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_Missense_Mutation_p.I26M	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGGGAAGATCCTGGCTGTTG	0.657000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	37					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993877	993877	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:993877C>A	ENST00000537687.1	+	19	5330	c.4687C>A	c.(4687-4689)Cta>Ata	p.L1563I	WNK1_ENST00000315939.6_Missense_Mutation_p.L1303I|WNK1_ENST00000535572.1_Missense_Mutation_p.L1056I|WNK1_ENST00000530271.2_Missense_Mutation_p.L1801I|WNK1_ENST00000340908.4_Missense_Mutation_p.L896I	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1303					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATCCCTTAGTCTACAACAGGC	0.443000													18	25					8.34094e-07	8.84645e-07	1	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617838	183617838	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:183617838C>T	ENST00000308641.4	-	2	350	c.79G>A	c.(79-81)Gat>Aat	p.D27N	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	27					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTAGAGCAATCGAGAGAGAAG	0.388000													12	27					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049796	36049796	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:36049796C>T	ENST00000379919.4	-	1	1036	c.480G>A	c.(478-480)ctG>ctA	p.L160L	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	160					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCGGATTCTCAGTTTCACTT	0.562000													3	16					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855873	89855873	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:89855873G>A	ENST00000275072.4	+	1	105	c.10G>A	c.(10-12)Gga>Aga	p.G4R		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	4							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CATGAGGCCCGGAGGGGAGCG	0.751000													3	13					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631460	126631460	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:126631460C>G	ENST00000359653.4	+	1	769	c.398C>G	c.(397-399)tCt>tGt	p.S133C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	133					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTTGCTTTTTCTGTTGATCCT	0.458000													22	87					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90135393	90135393	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:90135393G>C	ENST00000268138.7	+	5	1632	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	TICRR_ENST00000560985.1_Missense_Mutation_p.L508F					TOPBP1-interacting checkpoint and replication regulator																		GTTCCGATTTGATGGAGTCAT	0.418000													22	32					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13764500	13764500	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:13764500G>C	ENST00000380567.1	+	8	1032	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	OFD1_ENST00000380550.3_Missense_Mutation_p.E194Q|OFD1_ENST00000340096.6_Missense_Mutation_p.E194Q|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.E194Q			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	194					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.E194K(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATCAAGTTCGAATCTTTAGA	0.343000													23	53					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233696	31233696	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:31233696C>G	ENST00000435680.1	-	16	2408	c.2311G>C	c.(2311-2313)Gag>Cag	p.E771Q	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_Intron	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	771							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GCTAATGTCTCAGTAGACAAC	0.378000													4	13					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245375	137245375	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:137245375C>T	ENST00000331858.4	+	2	957	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	264					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TGAAGAGCATCGCCACCATCA	0.592000													3	30					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059027	63059027	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:63059027G>A	ENST00000332793.6	+	2	420	c.418G>A	c.(418-420)Gat>Aat	p.D140N	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.D88N|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	140						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGGTATGTGATTATCAGTC	0.473000													4	27					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465165	241465165	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:241465165G>A	ENST00000391987.1	-	7	1371	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	ANKMY1_ENST00000406958.1_Silent_p.L194L|ANKMY1_ENST00000405523.3_Silent_p.L194L|ANKMY1_ENST00000536462.1_Silent_p.L147L|ANKMY1_ENST00000361678.4_Silent_p.L194L|ANKMY1_ENST00000403283.1_Silent_p.L273L|ANKMY1_ENST00000373318.2_Silent_p.L194L|ANKMY1_ENST00000272972.3_Silent_p.L335L|ANKMY1_ENST00000401804.1_Silent_p.L424L|ANKMY1_ENST00000405002.1_Silent_p.L105L|ANKMY1_ENST00000373320.4_Silent_p.L105L	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	335							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTAGTGGAGGAGGAAACACA	0.587000													6	14					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627681	43627681	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:43627681C>A	ENST00000332857.6	-	4	1034	c.1006G>T	c.(1006-1008)Gcc>Tcc	p.A336S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTGACCTTGGCTGTTTCTGTG	0.443000													89	160					1.74666e-38	1.97367e-38	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134071539	134071539	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:134071539G>A	ENST00000264360.5	+	1	1070	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E82K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AATAGACCGCGAACAAATCTG	0.562000													12	41					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105483104	105483104	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:105483104T>A	ENST00000393127.2	+	3	636	c.190T>A	c.(190-192)Ttg>Atg	p.L64M	GRIA4_ENST00000428631.2_Missense_Mutation_p.L64M|GRIA4_ENST00000393125.2_Missense_Mutation_p.L64M|GRIA4_ENST00000530497.1_Missense_Mutation_p.L64M|GRIA4_ENST00000525187.1_Missense_Mutation_p.L64M|GRIA4_ENST00000282499.5_Missense_Mutation_p.L64M|GRIA4_ENST00000527669.1_Missense_Mutation_p.L64M	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	64					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCTTTTAATTTGGTACCTCA	0.393000													31	39					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9288540	9288540	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:9288540G>C	ENST00000378501.2	+	1	94	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PLCB4_ENST00000334005.3_Missense_Mutation_p.E27Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.E27Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E27Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E27Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E27Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	27					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGACAGATACGAGGAGGTAAA	0.299000													5	19					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91659278	91659278	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:91659278G>C	ENST00000359028.2	+	16	4479	c.4254G>C	c.(4252-4254)gtG>gtC	p.V1418V	AKAP9_ENST00000356239.3_Silent_p.V1406V|AKAP9_ENST00000358100.2_Silent_p.V1418V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1418					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGTTGTGTGAAAAAGAATA	0.274000			T	BRAF	papillary thyroid								32	51					0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94764386	94764386	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:94764386C>G	ENST00000283357.5	+	6	782	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	246										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GAAAGCCATTCAAGAATTCGT	0.418000													26	79					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41065475	41065475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:41065475C>A	ENST00000399564.4	-	4	769	c.319G>T	c.(319-321)Gaa>Taa	p.E107*		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACAACGAATTCATCTGGTAGC	0.418000													4	23					0.0215528	0.0218895	1	1	0
CEP55	55165	broad.mit.edu	37	10	95275195	95275195	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:95275195G>A	ENST00000371485.3	+	5	866	c.562G>A	c.(562-564)Gat>Aat	p.D188N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	188	Interaction with PDCD6IP.|Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCTCGTGTATGATCAGCAGCG	0.383000													22	64					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799070	54799070	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:54799070G>A	ENST00000293379.4	-	12	1366	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	369					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGGTGCTGCAGGTAGACGTAG	0.657000													4	19					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19032502	19032502	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:19032502C>T	ENST00000247003.4	+	3	337	c.270C>T	c.(268-270)ttC>ttT	p.F90F	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'UTR	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	90	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CAGAGCAGTTCCGGGTCCTGG	0.647000													8	32					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56477581	56477581	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:56477581G>A	ENST00000267101.3	+	2	569	c.129G>A	c.(127-129)gaG>gaA	p.E43E	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.E43E|ERBB3_ENST00000415288.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	43					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGATGCTGAGAACCAATACC	0.547000													18	56					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38090568	38090568	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:38090568G>A	ENST00000592533.1	+	3	383	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ZNF540_ENST00000343599.5_Silent_p.Q17Q|ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000589117.1_Silent_p.Q17Q|ZNF540_ENST00000316433.4_Silent_p.Q17Q	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTCTCTCAGAAGGAATGGG	0.403000													16	53					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78475220	78475220	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:78475220C>G	ENST00000377211.4	-	5	1346	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H	EDNRB_ENST00000446573.1_Missense_Mutation_p.Q308H|EDNRB_ENST00000334286.5_Missense_Mutation_p.Q308H	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TTAAAGCAATCTGCATGCCAC	0.323000													11	12					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39278342	39278342	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:39278342C>T	ENST00000426016.1	-	7	893	c.807G>A	c.(805-807)atG>atA	p.M269I	SOS1_ENST00000428721.2_Missense_Mutation_p.M212I|SOS1_ENST00000395038.2_Missense_Mutation_p.M269I|SOS1_ENST00000402219.2_Missense_Mutation_p.M269I			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTTCATCTGTCATTTCTACTG	0.383000									Noonan syndrome				41	85					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148786	69148786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:69148786G>A	ENST00000306560.1	+	4	1435	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A427T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	427					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCCACCTACGCCTGCTTCCT	0.542000													20	63					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903924	129903924	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129903924C>T	ENST00000368654.3	-	13	6555	c.6180G>A	c.(6178-6180)gaG>gaA	p.E2060E	MKI67_ENST00000368653.3_Silent_p.E1700E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2060	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)				TTGGCCACCTCTCCATCCCAG	0.502000													119	102					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838554	16838554	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:16838554C>G	ENST00000355661.3	-	11	1669	c.1659G>C	c.(1657-1659)cgG>cgC	p.R553R	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R553R|PLEKHA7_ENST00000448080.2_Silent_p.R553R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	553	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCTCCTGCTCCGGCCCTGGT	0.687000													6	15					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848748	73848748	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:73848748C>A	ENST00000523207.1	+	3	1746	c.1158C>A	c.(1156-1158)gaC>gaA	p.D386E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	386					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTATGGTGACATTTACCCTA	0.433000													12	122					2.27111e-07	2.43142e-07	1	1	0
SCRN2	90507	broad.mit.edu	37	17	45915651	45915651	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:45915651C>G	ENST00000407215.3	-	7	1185	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	SCRN2_ENST00000584123.1_Silent_p.L376L|SCRN2_ENST00000290216.9_Silent_p.L368L			Q96FV2	SCRN2_HUMAN	secernin 2	368					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTCTCTCCATCAGCCCCAGGG	0.577000													8	51					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29664535	29664535	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29664535G>A	ENST00000358273.4	+	43	6960	c.6577G>A	c.(6577-6579)Gag>Aag	p.E2193K	NF1_ENST00000356175.3_Missense_Mutation_p.E2172K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2193					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E2193fs*48(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTCCTATGAGAGAGAGAC	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			42	33					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34956930	34956930	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:34956930C>G	ENST00000453626.1	-	4	755	c.751G>C	c.(751-753)Gat>Cat	p.D251H	DONSON_ENST00000303071.5_Missense_Mutation_p.D251H|DONSON_ENST00000303113.6_Missense_Mutation_p.D237H|DONSON_ENST00000432378.1_Missense_Mutation_p.D251H			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	251					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AGGGTTGCATCATTTGACCAA	0.393000													7	34					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8416611	8416611	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:8416611G>C	ENST00000356406.5	-	4	500	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ACOX3_ENST00000503233.1_Silent_p.L141L|ACOX3_ENST00000413009.2_Silent_p.L141L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	141					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.L141L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GAATATATGTGAGATGTCTTT	0.403000													7	31					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37374337	37374337	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:37374337G>C	ENST00000333461.5	-	2	549	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	60					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TGGGGCACTTGAGCTCAGAGC	0.637000													11	18					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49944051	49944051	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:49944051C>G	ENST00000257981.6	+	10	2117	c.1857C>G	c.(1855-1857)ctC>ctG	p.L619L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	619					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCAGGCCCTCTACTTTGTCT	0.677000													8	20					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68712168	68712168	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:68712168G>C	ENST00000264012.4	+	4	922	c.378G>C	c.(376-378)caG>caC	p.Q126H	CDH3_ENST00000429102.2_Missense_Mutation_p.Q126H|CDH3_ENST00000581171.1_Missense_Mutation_p.Q71H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	126	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCTTCCCCCAGAGACTGAATC	0.507000													12	35					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:94761893C>T	ENST00000397809.5	-	10	1682	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_ENST00000339839.5_Missense_Mutation_p.R378H|CCDC41_ENST00000397807.2_Missense_Mutation_p.R345H	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333000													6	29					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168397	110168397	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:110168397G>C	ENST00000256578.3	+	3	858	c.498G>C	c.(496-498)caG>caC	p.Q166H	AMPD2_ENST00000528667.1_Missense_Mutation_p.Q166H|AMPD2_ENST00000358729.4_Missense_Mutation_p.Q91H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Q47H|AMPD2_ENST00000342115.4_Missense_Mutation_p.Q85H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.Q48H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	166					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGAGCGGCAGATCAGCCAGG	0.627000													7	42					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699701	40699701	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:40699701C>T	ENST00000298910.7	+	28	3950	c.3892C>T	c.(3892-3894)Cct>Tct	p.P1298S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1298					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGGGATCTTCCTTTGGATGA	0.328000													12	25					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76447615	76447615	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:76447615C>G	ENST00000389840.5	-	66	10752	c.10628G>C	c.(10627-10629)gGa>gCa	p.G3543A	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3552A|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCCTCGAGTCCATCCCTGGT	0.557000													22	115					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099947	133099947	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:133099947G>C	ENST00000515826.1	+	3	1515	c.1392G>C	c.(1390-1392)ctG>ctC	p.L464L	TMEM108_ENST00000321871.6_Silent_p.L464L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.L464L			Q6UXF1	TM108_HUMAN	transmembrane protein 108	464						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCATCTGCCTGAGCAAGATGG	0.637000													5	18					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48739311	48739311	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:48739311G>C	ENST00000314191.2	-	64	8742	c.8686C>G	c.(8686-8688)Ctg>Gtg	p.L2896V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2896V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2897	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCGGAGCAGAGCCTCCTCT	0.657000								Non-homologous end-joining					8	17					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768126	127768126	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:127768126G>T	ENST00000483725.3	-	5	1674	c.1338C>A	c.(1336-1338)aaC>aaA	p.N446K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	446							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ATACAGTTCTGTTAAATTCAT	0.418000													11	65					0.00829132	0.00846496	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53453358	53453358	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:53453358C>T	ENST00000357666.4	-	5	1970	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	ZNF816_ENST00000444460.2_Missense_Mutation_p.R557K|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGTATGAACTCTCGTATGGTT	0.393000													30	100					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42809005	42809005	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:42809005G>C	ENST00000398600.2	+	9	1387	c.362G>C	c.(361-363)aGa>aCa	p.R121T	MX1_ENST00000455164.2_Missense_Mutation_p.R121T|MX1_ENST00000288383.6_Missense_Mutation_p.R98T|MX1_ENST00000398598.3_Missense_Mutation_p.R121T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	121					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GATAAGTGGAGAGGCAAGGTC	0.493000													16	35					0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2770955	2770955	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:2770955C>G	ENST00000275364.3	-	4	1168	c.1006G>C	c.(1006-1008)Gac>Cac	p.D336H	AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Missense_Mutation_p.D188H|GNA12_ENST00000544127.1_Missense_Mutation_p.D243H|GNA12_ENST00000407904.3_Missense_Mutation_p.D277H|GNA12_ENST00000407653.1_Missense_Mutation_p.D260H|GNA12_ENST00000491117.1_5'UTR	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	336					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CTCTTCCTGTCGAAGCACTGG	0.597000													18	57					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100316667	100316667	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:100316667C>G	ENST00000294724.4	+	2	547	c.69C>G	c.(67-69)ttC>ttG	p.F23L	AGL_ENST00000370163.3_Missense_Mutation_p.F23L|AGL_ENST00000361915.3_Missense_Mutation_p.F23L|AGL_ENST00000361302.3_5'UTR|AGL_ENST00000370165.3_Missense_Mutation_p.F23L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	23					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGACCCTCTTCAGACTTGAAC	0.348000													19	67					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38174037	38174037	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:38174037G>C	ENST00000373055.1	+	10	1115	c.842G>C	c.(841-843)tGa>tCa	p.*281S	CDCA8_ENST00000327331.2_Nonstop_Mutation_p.*281S	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	0					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCCACAAATGAGACACCAAA	0.478000													9	16					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958163	119958163	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:119958163G>A	ENST00000543831.1	+	2	370	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E41K|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	41					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTTCAGACCAGAATTGAGAGA	0.512000													71	31					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233110	56233110	+	RNA	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:56233110C>G	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							GCGCCTACCACTTCCGGGCCC	0.567000													14	3					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542370	61542370	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:61542370C>T	ENST00000266070.4	-	3	920	c.595G>A	c.(595-597)Gag>Aag	p.E199K	DIDO1_ENST00000370371.4_Missense_Mutation_p.E199K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E199K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E199K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E199K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E199K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E199K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E199K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E199K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	199					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)					CCCACAGTCTCGGCGGGACCC	0.652000													9	23					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458421	12458421	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:12458421C>G	ENST00000397026.2	+	8	1355	c.972C>G	c.(970-972)ctC>ctG	p.L324L	PPARG_ENST00000397010.2_Silent_p.L318L|PPARG_ENST00000287820.6_Silent_p.L346L|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.L318L|PPARG_ENST00000397012.2_Silent_p.L318L|PPARG_ENST00000397015.2_Silent_p.L318L|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	346	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TAACTCTCCTCAAATATGGAG	0.473000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						114	29					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100433482	100433482	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:100433482C>T	ENST00000279907.7	-	20	4379	c.4167G>A	c.(4165-4167)ctG>ctA	p.L1389L	UHRF1BP1L_ENST00000545232.2_Silent_p.L1039L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1389										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTTGTTTCTTCAGATCATACT	0.433000													11	50					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37579629	37579629	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:37579629G>A	ENST00000300651.6	-	13	1269	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	MED1_ENST00000394287.3_Missense_Mutation_p.S349L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	349	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGGGTCCTTTGATAGCTCAAA	0.388000										HNSCC(31;0.082)			31	50					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12686287	12686287	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:12686287G>A	ENST00000262127.2	-	8	1321	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	PSMG2_ENST00000589405.1_3'UTR|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Silent_p.L291L	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	366					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCCAGCAGAGTGCACCAC	0.393000													6	77					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22358330	22358330	+	Missense_Mutation	SNP	C	C	G	rs145515892		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:22358330C>G	ENST00000268383.2	-	5	1628	c.1321G>C	c.(1321-1323)Gat>Cat	p.D441H		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	441						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTCTGTTCATCTATTTCCTGC	0.423000													31	101					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157369389	157369389	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:157369389G>A	ENST00000389413.3	-	18	2715	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	PTPRN2_ENST00000409483.1_Missense_Mutation_p.T862M|PTPRN2_ENST00000389418.4_Missense_Mutation_p.T900M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T883M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T923M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	900	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGGTGCGCGTCTCGTTGGT	0.602000													3	8					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881389	26881389	+	Silent	SNP	C	C	A	rs147182231		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:26881389C>A	ENST00000231021.4	-	12	2398	c.2226G>T	c.(2224-2226)ggG>ggT	p.G742G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G742G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGAATCATTCCCTTCATAGG	0.418000													29	79					1.06801e-11	1.17095e-11	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48258268	48258268	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:48258268C>T	ENST00000394747.1	-	4	817	c.468G>A	c.(466-468)ctG>ctA	p.L156L	ABCC11_ENST00000394748.1_Silent_p.L156L|ABCC11_ENST00000537808.1_Silent_p.L156L|ABCC11_ENST00000356608.2_Silent_p.L156L|ABCC11_ENST00000353782.5_Silent_p.L156L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	156						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCTGGAACCTCAGCATCACCA	0.493000													10	37					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869834	4869834	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:4869834C>A	ENST00000322101.2	-	1	680	c.605G>T	c.(604-606)gGt>gTt	p.G202V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGGCTGCACCCCAAGCTTC	0.532000													7	33					0.00307968	0.00314889	1	1	0
TAB1	10454	broad.mit.edu	37	22	39822732	39822732	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:39822732G>A	ENST00000216160.6	+	9	1008	c.946G>A	c.(946-948)Gag>Aag	p.E316K	TAB1_ENST00000331454.3_Missense_Mutation_p.E316K	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	316	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK 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	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GATTGACACTGAGTTTGCCAA	0.632000													15	39					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748374	153748374	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:153748374C>T	ENST00000271857.2	+	1	1545	c.785C>T	c.(784-786)gCg>gTg	p.A262V	SLC27A3_ENST00000368661.3_Missense_Mutation_p.A181V|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	181					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCGGGCAGCGCCGGGAGCC	0.741000													4	28					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001347	150001347	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:150001347C>G	ENST00000543571.1	-	5	2804	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	LATS1_ENST00000253339.5_Missense_Mutation_p.E753Q|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	753	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATATCTCTCTCAGCCTTAACA	0.368000													12	80					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6947177	6947177	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:6947177C>T	ENST00000389658.3	-	61	8922	c.8829G>A	c.(8827-8829)gaG>gaA	p.E2943E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2943	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCCACAAGCTCTAGTCCAA	0.527000													13	44					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230410	140230410	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140230410C>G	ENST00000378122.3	+	1	3054	c.2330C>G	c.(2329-2331)tCt>tGt	p.S777C	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S777C|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGCCTTTCTCCTTGTGCT	0.527000													19	67					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1223161	1223161	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:1223161C>T	ENST00000326873.7	+	8	2271	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	366					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGGACTTCACGGTGCCCG	0.642000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	5					0	0	1	0	0
OXT	5020	broad.mit.edu	37	20	3052409	3052409	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:3052409C>G	ENST00000217386.2	+	1	144	c.108C>G	c.(106-108)ctC>ctG	p.L36L		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	36					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	CGCCGGACCTCGACGTGCGCA	0.746000													3	3					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1742690	1742690	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:1742690G>A	ENST00000313288.4	+	13	2306	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	734						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAAACAGAAAGAGGTGATCGA	0.512000													26	42					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113310243	113310243	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:113310243G>A	ENST00000263331.5	+	7	1588	c.1008G>A	c.(1006-1008)ttG>ttA	p.L336L	POLR1B_ENST00000417433.2_Silent_p.L280L|POLR1B_ENST00000537335.1_Silent_p.L125L|POLR1B_ENST00000541869.1_Silent_p.L374L|POLR1B_ENST00000409894.3_Silent_p.L336L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	336					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTATCCACTTGAAATCCAATA	0.363000													11	74					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66842425	66842425	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:66842425G>A	ENST00000341509.5	-	12	1673	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	LCTL_ENST00000537670.1_Silent_p.L341L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	514					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAAGCTTTGAGGTACCAAC	0.308000													15	39					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440093	145440093	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:145440093G>T	ENST00000369317.4	+	4	861	c.527G>T	c.(526-528)gGg>gTg	p.G176V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	176					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTCCTGATGGGCGGGTGTCT	0.418000													34	356					1.414e-09	1.53671e-09	1	1	0
CARD8	22900	broad.mit.edu	37	19	48733889	48733889	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:48733889G>A	ENST00000391898.3	-	7	883	c.841C>T	c.(841-843)Cca>Tca	p.P281S	CARD8_ENST00000520753.1_Missense_Mutation_p.P281S|CARD8_ENST00000447740.2_Missense_Mutation_p.P231S|CARD8_ENST00000520153.1_Missense_Mutation_p.P231S|CARD8_ENST00000521613.1_Missense_Mutation_p.P231S|CARD8_ENST00000519940.1_Missense_Mutation_p.P281S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Missense_Mutation_p.P175S|CARD8_ENST00000520015.1_Missense_Mutation_p.P281S|CARD8_ENST00000357778.5_Missense_Mutation_p.P6S	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	175					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ACCCGGGCTGGATGCTCCAGG	0.587000													11	79					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143928067	143928067	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:143928067G>C	ENST00000220940.1	+	4	528	c.438G>C	c.(436-438)ctG>ctC	p.L146L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	146					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AACTGTTGCTGAGTTTTGCCT	0.483000													18	55					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58568120	58568120	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:58568120G>C	ENST00000317147.5	-	40	6158	c.5826C>G	c.(5824-5826)ctC>ctG	p.L1942L	CNOT1_ENST00000569240.1_Silent_p.L1937L|CNOT1_ENST00000245138.4_Silent_p.L793L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1942					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCAGTGCAATGAGTCGAACAA	0.502000													6	14					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727966	20727966	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:20727966C>G	ENST00000427401.4	-	4	1137	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	348					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R347K(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTAAAGGCTCTGCCACATTC	0.413000													23	64					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141540	133141540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:133141540G>T	ENST00000388996.4	-	15	3008	c.2588C>A	c.(2587-2589)tCa>tAa	p.S863*	KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.S743*|KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.S851*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	863					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCCATACTGAATCAGAAAT	0.532000													32	27					2.61193e-14	2.89625e-14	1	1	0
STAP1	26228	broad.mit.edu	37	4	68456635	68456635	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:68456635C>A	ENST00000265404.2	+	7	775	c.693C>A	c.(691-693)agC>agA	p.S231R	STAP1_ENST00000396225.1_Missense_Mutation_p.S231R	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	231	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAGTGATGAGCGTAGGACAAA	0.348000													7	31					3.09899e-07	3.30478e-07	1	1	0
PNPLA3	80339	broad.mit.edu	37	22	44335884	44335884	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:44335884G>C	ENST00000216180.3	+	7	1164	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	PNPLA3_ENST00000423180.2_Missense_Mutation_p.E327Q	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	331					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ACTGAGTGAAGAAATGAAAGA	0.403000													13	24					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154214252	154214252	+	Missense_Mutation	SNP	C	C	T	rs139035351		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:154214252C>T	ENST00000338700.5	+	4	637	c.572C>T	c.(571-573)tCg>tTg	p.S191L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.S164L	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	164						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACAAGGCCTCGCTCCAGGTC	0.617000													5	35					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067664	116067664	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:116067664C>G	ENST00000369271.3	-	10	1272	c.972G>C	c.(970-972)aaG>aaC	p.K324N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.K377N|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.K324N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	324					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AACATTTCTTCTTGACTGTCA	0.488000													22	16					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45199822	45199822	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:45199822C>G	ENST00000066544.3	-	18	2473	c.2380G>C	c.(2380-2382)Gaa>Caa	p.E794Q	CDC27_ENST00000531206.1_Missense_Mutation_p.E800Q|CDC27_ENST00000446365.2_Missense_Mutation_p.E733Q|CDC27_ENST00000527547.1_Missense_Mutation_p.E793Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	794					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATCTGTTCTTCTTGGGTTATT	0.338000													6	92					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340576	104340576	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:104340576G>C	ENST00000299767.5	+	16	2301	c.2119G>C	c.(2119-2121)Gat>Cat	p.D707H		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	707					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGATGAAGATGATAAAACAGT	0.343000													9	66					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046289	128046289	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:128046289C>T	ENST00000493187.2	-	7	1245	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	ERCC3_ENST00000285398.2_Missense_Mutation_p.R325Q			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	325	Asp/Glu-rich (acidic).				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAACATCTTTCGCAAGCTCTT	0.498000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	240					0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637208	43637208	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:43637208G>C	ENST00000431635.2	-	4	578	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.Q89E|EBNA1BP2_ENST00000472982.1_5'UTR	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	89					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCTTGTTCTGAGGTGCTGGC	0.493000													17	88					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65819874	65819874	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:65819874G>A	ENST00000528302.1	+	1	73	c.19G>A	c.(19-21)Gag>Aag	p.E7K	SF3B2_ENST00000322535.6_Missense_Mutation_p.E7K			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	7					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGAGCATCCCGAGCCTCCCAA	0.687000													29	9					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27827055	27827055	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:27827055G>A	ENST00000396319.2	+	8	959	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E291K|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E291K|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E291K|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E134K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	291					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAAGAATACAGAAATAGAAAA	0.313000													4	62					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326126	74326126	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:74326126C>A	ENST00000446526.3	-	6	1078	c.633G>T	c.(631-633)aaG>aaT	p.K211N	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.K108N	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	182					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TTACTTACCTCTTTGCAGCAT	0.418000													22	119					3.62473e-10	3.95504e-10	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153156	5153156	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:5153156C>A	ENST00000307388.1	-	1	716	c.717G>T	c.(715-717)aaG>aaT	p.K239N		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTAAAGGCCTTGAATCGTG	0.418000													9	31					0.0581538	0.0589309	1	1	0
C2CD5	9847	broad.mit.edu	37	12	22659673	22659673	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:22659673C>T	ENST00000333957.4	-	10	1374	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	C2CD5_ENST00000544930.1_Silent_p.V166V|C2CD5_ENST00000536386.1_Silent_p.V375V|C2CD5_ENST00000545552.1_Silent_p.V364V|C2CD5_ENST00000396028.2_Silent_p.V364V|C2CD5_ENST00000542676.1_Silent_p.V373V|C2CD5_ENST00000446597.1_Silent_p.V373V	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		CCAAAAGCTTCACAGAACGTG	0.348000													23	24					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44053208	44053208	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:44053208C>T	ENST00000279036.6	+	11	1553	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	PIGT_ENST00000543458.2_Silent_p.L435L|PIGT_ENST00000545755.1_Silent_p.L229L|PIGT_ENST00000279035.9_Silent_p.L389L|PIGT_ENST00000341555.5_Silent_p.L297L|PIGT_ENST00000535404.1_Silent_p.L336L|PIGT_ENST00000372689.5_Silent_p.L424L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	491					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGAGTCCCCTCTTCAACAGCC	0.582000													12	10					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57753156	57753156	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:57753156T>C	ENST00000274289.3	-	7	1160	c.860A>G	c.(859-861)gAa>gGa	p.E287G	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	287	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTATAAGTTTCTTTGAGATT	0.413000													9	25					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6711241	6711241	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:6711241C>T	ENST00000309577.6	-	4	486	c.323G>A	c.(322-324)aGc>aAc	p.S108N	CHD4_ENST00000357008.2_Missense_Mutation_p.S108N|CHD4_ENST00000544484.1_Missense_Mutation_p.S105N|CHD4_ENST00000544040.1_Missense_Mutation_p.S101N			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	108					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGTATAGTCGCTGCCCTCACT	0.557000													4	23					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729108	8729108	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:8729108G>T	ENST00000381920.3	+	5	897	c.639G>T	c.(637-639)ggG>ggT	p.G213G	METTL22_ENST00000561758.1_Silent_p.G157G|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	213							methyltransferase activity			large_intestine(5)|lung(4)	9						TGGAGCTCGGGGCCGGCACGG	0.612000													3	38					0.115264	0.116372	1	1	0
NF1	4763	broad.mit.edu	37	17	29663861	29663861	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29663861G>C	ENST00000358273.4	+	42	6739	c.6356G>C	c.(6355-6357)aGa>aCa	p.R2119T	NF1_ENST00000356175.3_Missense_Mutation_p.R2098T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2119					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.R2119fs*21(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCTCCCTTAGAGCTTCCACA	0.433000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			56	46					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981055	44981055	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:44981055G>A	ENST00000221327.4	-	5	1924	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	ZNF180_ENST00000391956.4_Missense_Mutation_p.P523L|ZNF180_ENST00000592529.1_Missense_Mutation_p.P521L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ACATTCATACGGTTTCTCTCC	0.418000													18	73					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478795	21478795	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:21478795G>A	ENST00000313654.9	+	45	5948	c.5707G>A	c.(5707-5709)Gag>Aag	p.E1903K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1903K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E294K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E294K|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1903	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAAGAATTTGAGACTTTGCA	0.338000													8	38					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42602935	42602935	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:42602935C>G	ENST00000318010.8	+	10	1188	c.948C>G	c.(946-948)gtC>gtG	p.V316V	GANC_ENST00000566442.1_Silent_p.V316V	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	316					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACAAAAGGTCAGATCTCGCA	0.438000													45	60					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114177076	114177076	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:114177076C>T	ENST00000357077.4	+	11	1229	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	ANK2_ENST00000394537.3_Silent_p.N392N|ANK2_ENST00000506722.1_Silent_p.N371N|ANK2_ENST00000264366.6_Silent_p.N392N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	392					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAATCCGAACGCCAGAGCCC	0.493000													18	3					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465640	10465640	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:10465640C>G	ENST00000382483.3	-	4	6191	c.5968G>C	c.(5968-5970)Gaa>Caa	p.E1990Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1990					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCCCCTTCTGCCTCCTGG	0.582000													33	96					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197598223	197598223	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:197598223C>G	ENST00000438796.2	+	19	2064	c.2020C>G	c.(2020-2022)Cta>Gta	p.L674V	LRCH3_ENST00000414675.2_Missense_Mutation_p.L622V|LRCH3_ENST00000334859.4_Missense_Mutation_p.L674V|LRCH3_ENST00000441090.2_Missense_Mutation_p.L520V|LRCH3_ENST00000425562.2_Missense_Mutation_p.L674V|LRCH3_ENST00000536618.1_Missense_Mutation_p.L269V			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	674	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAAAGTGTCTCTACCTTGTGA	0.413000													29	112					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555513	148555513	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:148555513G>C	ENST00000296582.3	+	10	1819	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	415						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CCACAGCTAAGATATCTGATG	0.428000													14	56					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124354915	124354915	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:124354915C>G	ENST00000409039.3	+	43	7193	c.7168C>G	c.(7168-7170)Caa>Gaa	p.Q2390E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2390					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)		TCCTGCAGGTCAACTTCCAAC	0.393000													9	9					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21158593	21158593	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:21158593G>C	ENST00000255882.6	-	12	1542	c.1456C>G	c.(1456-1458)Ctg>Gtg	p.L486V	PI4KA_ENST00000572273.1_Missense_Mutation_p.L428V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	428					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGACCTGCAGACAGCAGATC	0.542000											OREG0026326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	48					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333158	70333158	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:70333158C>G	ENST00000373644.4	+	2	1272	c.1063C>G	c.(1063-1065)Caa>Gaa	p.Q355E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	355					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTGCAAATCAACAGGAAGT	0.488000													44	48					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536399	30536399	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:30536399G>A	ENST00000380412.5	-	2	1237	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	ZNF768_ENST00000562803.1_Silent_p.F323F	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	354					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCTGTCGCCGAAGGCCTTGC	0.637000													12	15					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43638559	43638559	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:43638559G>C	ENST00000372492.4	+	2	459	c.135G>C	c.(133-135)caG>caC	p.Q45H	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGTGGATCAGAAATGGCAAA	0.393000													7	34					0	0	1	0	0
SPRN	503542	broad.mit.edu	37	10	135237155	135237155	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:135237155G>C	ENST00000541506.1	-	2	187	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	SPRN_ENST00000414069.2_Missense_Mutation_p.L11V			Q5BIV9	SPRN_HUMAN	shadow of prion protein homolog (zebrafish)	11	Ala-rich.					anchored to membrane|plasma membrane							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)		GCCAGTAGCAGAGCCCAGCAC	0.706000													4	8					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762797	92762797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:92762797C>A	ENST00000318238.4	-	5	3704	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E830*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E830*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	830										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATGTTTTTTCATATCGCAAA	0.363000													46	77					6.68952e-21	7.51539e-21	1	1	0
HOXA5	3202	broad.mit.edu	37	7	27182734	27182734	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:27182734C>T	ENST00000222726.3	-	1	553	c.493G>A	c.(493-495)Gag>Aag	p.E165K	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	165					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGGCTCGGCTCGCTCTGCGCA	0.667000													45	106					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182400225	182400225	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:182400225T>A	ENST00000397033.2	+	28	3500	c.3070T>A	c.(3070-3072)Tat>Aat	p.Y1024N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1024					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGTTGGAGTTATATCAACAG	0.318000													12	112					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162890154	162890154	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:162890154C>T	ENST00000360534.3	-	10	1344	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	262					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTTGGATTCACAGCTCCTGCC	0.363000													15	11					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162174	29162174	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:29162174G>A	ENST00000321990.4	+	2	1453	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	359					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCTGATCCTGAGAATGAACA	0.373000													10	55					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746515	15746515	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:15746515G>C	ENST00000285667.3	-	5	906	c.839C>G	c.(838-840)tCt>tGt	p.S280C	HSPA13_ENST00000544452.1_Missense_Mutation_p.S72C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	280						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTCTTTCCTAGAGGGCACGAA	0.388000													7	16					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100992415	100992415	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:100992415C>G	ENST00000376285.1	+	18	1583	c.1545C>G	c.(1543-1545)caC>caG	p.H515Q	PCCA_ENST00000376286.4_Missense_Mutation_p.H489Q|PCCA_ENST00000376279.3_Missense_Mutation_p.H515Q	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	515					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CCTCAGGACACATGCTAACCA	0.343000													30	14					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692484	67692484	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:67692484G>C	ENST00000219251.8	-	9	1383	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	ACD_ENST00000393919.4_Missense_Mutation_p.S354C	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	354					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAAGGAGGAGAGGCTATGAG	0.622000													4	21					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482869	60482869	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:60482869G>T	ENST00000300226.2	+	7	938	c.735G>T	c.(733-735)gaG>gaT	p.E245D		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		ATTCCAGTGAGATCCAAGCAA	0.483000													4	25					0.150653	0.151877	1	1	0
TMEM65	157378	broad.mit.edu	37	8	125334371	125334371	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:125334371G>C	ENST00000297632.6	-	5	1024	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	164						integral to membrane		p.L164V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGACACAAGATTTCCCAAA	0.313000													56	35					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34053885	34053885	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr20:34053885G>C	ENST00000397527.1	+	7	1068	c.348G>C	c.(346-348)gtG>gtC	p.V116V	CEP250_ENST00000342580.4_Silent_p.V116V|CEP250_ENST00000397524.1_Silent_p.V116V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	116					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TAGCAGAGGTGAACACCCAGC	0.532000													70	63					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327519	74327519	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:74327519G>A	ENST00000268059.6	+	8	1813	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.E525K|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000569477.1_Missense_Mutation_p.G586E|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268058.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	573					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAAGTGCATGGAGCCCATGGA	0.612000			T	"""RARA, PAX5"""	"""APL, ALL"""								55	34					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125434745	125434745	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:125434745C>G	ENST00000308736.2	-	24	3264	c.3166G>C	c.(3166-3168)Gag>Cag	p.E1056Q	DHX37_ENST00000544745.1_Missense_Mutation_p.E843Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1056							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCAATCCCCTCTGGAAAATCC	0.647000													10	34					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046519	184046519	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:184046519G>A	ENST00000342981.4	+	26	4471	c.4057G>A	c.(4057-4059)Ggg>Agg	p.G1353R	EIF4G1_ENST00000346169.2_Missense_Mutation_p.G1352R|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G1157R|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G1188R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G1189R|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G1266R|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G1312R|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G1265R|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1352R|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G1313R|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1359R|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G1156R|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1359R|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1359R	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1352	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAAGGTGGGGTGCCCAT	0.532000													39	26					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105271	100105271	+	Silent	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:100105271G>C	ENST00000372966.3	-	9	1207	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.L297L|NOX1_ENST00000217885.5_Silent_p.L334L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	334	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCCATTCCAGGAGAGAGATTG	0.458000													3	4					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005554	1005554	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:1005554C>T	ENST00000537687.1	+	24	7324	c.6681C>T	c.(6679-6681)atC>atT	p.I2227I	WNK1_ENST00000315939.6_Silent_p.I1967I|WNK1_ENST00000535572.1_Silent_p.I1719I|WNK1_ENST00000530271.2_Silent_p.I2465I|WNK1_ENST00000340908.4_Silent_p.I1560I	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1967					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGGACAAGATCACTGACACAA	0.453000													23	61					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58150617	58150617	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:58150617G>C	ENST00000184956.6	-	4	508	c.492C>G	c.(490-492)aaC>aaG	p.N164K	HEATR6_ENST00000585976.1_Missense_Mutation_p.N164K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	164							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGAGTCCGGTGTTGCCTAGCA	0.403000													4	45					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543420	28543420	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:28543420C>T	ENST00000452236.2	-	3	1679	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	354					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGAATTTTTCTGTTGGCATG	0.368000													60	248					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73415041	73415041	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:73415041C>G	ENST00000339362.5	+	4	1071	c.624C>G	c.(622-624)atC>atG	p.I208M	NEO1_ENST00000560262.1_Missense_Mutation_p.I208M|NEO1_ENST00000261908.6_Missense_Mutation_p.I208M|NEO1_ENST00000558964.1_Missense_Mutation_p.I208M			Q92859	NEO1_HUMAN	neogenin 1	208	Ig-like C2-type 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I208I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCTGGTTATCAGCAATGCAA	0.453000													14	50					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53568746	53568746	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:53568746C>G	ENST00000025008.5	-	15	4166	c.3643G>C	c.(3643-3645)Gac>Cac	p.D1215H	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1215H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1215H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1215					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTTTGTCTGTCTTTCTCAAGG	0.358000													49	108					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921671	213921671	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:213921671C>G	ENST00000457361.1	-	4	460	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	IKZF2_ENST00000342002.2_Missense_Mutation_p.E104Q|IKZF2_ENST00000413091.3_Missense_Mutation_p.E98Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.E98Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.E98Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.E98Q|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.E98Q	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCTTGAAGCTCCTGGACTTTC	0.522000													21	23					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927951	33927951	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr15:33927951G>A	ENST00000389232.4	+	26	3382	c.3312G>A	c.(3310-3312)gcG>gcA	p.A1104A	RYR3_ENST00000415757.3_Silent_p.A1104A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1104	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1104A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGCTGGGCGAGGCCAGGCT	0.517000													11	14					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509861	105509861	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:105509861C>T	ENST00000276654.5	-	5	1027	c.919G>A	c.(919-921)Gat>Aat	p.D307N	LRP12_ENST00000424843.2_Missense_Mutation_p.D288N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	307	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTACCATCAAGTTTAAAG	0.393000													14	55					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323132	79323132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:79323132G>T	ENST00000428286.1	-	8	4181	c.2981C>A	c.(2980-2982)tCa>tAa	p.S994*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.S1353*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1353					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAAATCCCTGAGGCATTCTC	0.502000													9	55					2.74318e-10	2.99795e-10	1	1	0
TGDS	23483	broad.mit.edu	37	13	95232204	95232204	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:95232204G>A	ENST00000261296.5	-	7	679	c.559C>T	c.(559-561)Cca>Tca	p.P187S	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	187					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATGACAACTGGAAACTTAAAA	0.294000													11	15					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317963	77317963	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:77317963G>C	ENST00000282849.5	-	23	3974	c.3556C>G	c.(3556-3558)Cca>Gca	p.P1186A	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1186	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1186S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGCAGGATGGATCCTCTAAA	0.393000													7	22					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110353293	110353293	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:110353293C>G	ENST00000312777.5	+	12	1620	c.1406C>G	c.(1405-1407)tCa>tGa	p.S469*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.S469*	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	469	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGCTCTCAGATGCCCTG	0.637000													9	20					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10631387	10631387	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:10631387C>G	ENST00000547195.1	-	10	1686	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.E172Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.E479Q|MRVI1_ENST00000423302.2_Missense_Mutation_p.E487Q|MRVI1_ENST00000552103.1_Missense_Mutation_p.E396Q|MRVI1_ENST00000545852.1_Missense_Mutation_p.E172Q|MRVI1_ENST00000424001.1_Missense_Mutation_p.E172Q|MRVI1_ENST00000527509.2_Missense_Mutation_p.E396Q|MRVI1_ENST00000436272.1_Missense_Mutation_p.E460Q|MRVI1_ENST00000558540.1_Missense_Mutation_p.E172Q|MRVI1_ENST00000541483.1_Missense_Mutation_p.E281Q|MRVI1_ENST00000421747.1_Missense_Mutation_p.E478Q	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	460					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGGGAGAGTTCAGAAGGAAGC	0.428000													6	17					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54114378	54114378	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chrX:54114378C>T	ENST00000375180.2	-	12	2503	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	816										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGATCCCTCGGGCATCCAG	0.458000													15	2					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625087	111625087	+	Missense_Mutation	SNP	C	C	T	rs147436702		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr9:111625087C>T	ENST00000333999.3	+	1	485	c.485C>T	c.(484-486)cCg>cTg	p.P162L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	162						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGATCGCCCCGGAGGAGCAT	0.522000													16	9					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589786	205589786	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:205589786G>C	ENST00000357992.4	-	3	727	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.Q130E	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCACCAGGCTGAGGTGGTTTA	0.443000			T	SLC45A3	prostate								10	29					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21758039	21758039	+	Silent	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:21758039C>G	ENST00000319481.3	-	21	2237	c.2031G>C	c.(2029-2031)ctG>ctC	p.L677L	OSBPL1A_ENST00000399443.3_Silent_p.L164L|OSBPL1A_ENST00000357041.4_Silent_p.L295L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	677					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCCAGAATTTCAGTTTGGGAT	0.443000													52	12					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219781	56219781	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:56219781C>G	ENST00000381226.3	-	11	1043	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	MIER3_ENST00000381199.3_Missense_Mutation_p.R338T|MIER3_ENST00000381213.3_Missense_Mutation_p.R337T|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.R275T			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTTCCCAAATCTTGTCTGTTG	0.353000													13	41					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913933	129913933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr10:129913933C>A	ENST00000368654.3	-	7	1114	c.739G>T	c.(739-741)Gag>Tag	p.E247*	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	247					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)				ACATCCAACTCTTTCTTCACT	0.353000													12	40					6.40141e-05	6.63472e-05	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44074037	44074037	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:44074037C>T	ENST00000262726.7	-	13	1511	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	EFCAB6_ENST00000358439.4_Silent_p.P240P|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D268N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	420	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.D420N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATCGGTCCATCGGGTTTCTGA	0.323000													29	24					0	0	1	0	0
HN1	51155	broad.mit.edu	37	17	73132194	73132194	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:73132194G>C	ENST00000356033.4	-	4	726	c.449C>G	c.(448-450)tCt>tGt	p.S150C	HN1_ENST00000470924.1_3'UTR|HN1_ENST00000409753.3_3'UTR|HN1_ENST00000482348.1_3'UTR|HN1_ENST00000481647.1_3'UTR|HN1_ENST00000405458.3_3'UTR|HN1_ENST00000476258.1_3'UTR	NM_001002032.1	NP_001002032.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	0						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					AGGACAGTCAGAGCTAACCCA	0.562000													26	55					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129668804	129668804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:129668804G>A	ENST00000358303.4	-	5	643	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	ZC3HC1_ENST00000481503.1_Nonsense_Mutation_p.Q187*|ZC3HC1_ENST00000360708.5_Nonsense_Mutation_p.Q187*|ZC3HC1_ENST00000311873.5_Nonsense_Mutation_p.Q166*	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	187	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CAAAGGCTTTGAAAACGATCT	0.453000													17	16					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29827965	29827965	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:29827965C>G	ENST00000320330.6	+	1	681	c.119C>G	c.(118-120)tCt>tGt	p.S40C	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.S40C					PAXIP1 associated glutamate-rich protein 1																		GGAGGCCCCTCTGCCTCGGCC	0.701000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666804	50666804	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:50666804G>C	ENST00000371824.1	+	7	1312	c.1055G>C	c.(1054-1056)aGa>aCa	p.R352T	ELAVL4_ENST00000371819.1_Missense_Mutation_p.R357T|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R355T|ELAVL4_ENST00000371823.4_Missense_Mutation_p.R366T|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R352T|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R371T|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R369T			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	366	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R369K(1)|p.R366K(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTGGGAGACAGAGTGTTGCAA	0.443000													30	15					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508671	219508671	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:219508671C>A	ENST00000411696.2	-	7	3347	c.2568G>T	c.(2566-2568)agG>agT	p.R856S	ZNF142_ENST00000449707.1_Missense_Mutation_p.R856S			P52746	ZN142_HUMAN	zinc finger protein 142	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCACCCAGTCCTGGAGTGCA	0.642000													11	20					4.68919e-08	5.04393e-08	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134180964	134180964	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:134180964C>T	ENST00000431683.2	+	13	1187	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	396					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCAGCAACTCCCCTGCCCCGA	0.572000													92	19					0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96934351	96934351	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:96934351C>T	ENST00000488633.1	+	5	865	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	216					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TAGTGATGACCGTACTGTGCG	0.537000													16	73					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589412	17589412	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:17589412G>C	ENST00000319363.6	+	13	1436	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	435	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCAGAAGCAGGAGATGGTGGA	0.687000													3	46					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6709440	6709440	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:6709440G>A	ENST00000309577.6	-	9	1348	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	CHD4_ENST00000357008.2_Silent_p.V395V|CHD4_ENST00000544484.1_Silent_p.V392V|CHD4_ENST00000544040.1_Silent_p.V388V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	395					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GATCCAGGCAGACCATGTGGT	0.577000													13	34					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19188998	19188998	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:19188998C>T	ENST00000263200.10	-	23	3679	c.3607G>A	c.(3607-3609)Gac>Aac	p.D1203N	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Splice_Site|CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1203N	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1203	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAACAGCGGTCTCCAACTACG	0.483000			T	?	ALCL								12	45					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7858709	7858709	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:7858709G>C	ENST00000377532.3	+	6	993	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	PER3_ENST00000377541.1_Missense_Mutation_p.E256Q|PER3_ENST00000361923.2_Missense_Mutation_p.E256Q			P56645	PER3_HUMAN	period circadian clock 3	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGTGGTTGAAAAGATTCA	0.448000													10	22					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145998708	145998708	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr8:145998708G>C	ENST00000429371.2	-	6	1716	c.1563C>G	c.(1561-1563)caC>caG	p.H521Q	ZNF34_ENST00000343459.4_Missense_Mutation_p.H542Q	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGTTGGAACTGTGCCGGAAGG	0.587000													26	64					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783379	5783379	+	Silent	SNP	G	G	A	rs139287768	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:5783379G>A	ENST00000419421.2	-	3	983	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	291										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GCAGGCAGTCGAAGAGCTTCA	0.662000													21	7					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576334	146576334	+	Silent	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:146576334C>T	ENST00000281317.5	+	7	2215	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	MMAA_ENST00000541599.1_Silent_p.I54I	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	335						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAGGGGATCTCTGAAATGT	0.428000													24	50					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861316	38861316	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:38861316G>A	ENST00000409235.3	+	29	3479	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	CATSPERG_ENST00000410018.1_Missense_Mutation_p.G1082R|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1122					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTCCATTTCCGGAATCTCGAG	0.562000													12	48					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926395	1926395	+	Silent	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:1926395G>T	ENST00000399161.2	-	10	1893	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L	MYT1L_ENST00000428368.2_Silent_p.L382L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	382					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAGCCGCATGAGGTTCAGCA	0.592000													6	20					0.248553	0.24965	1	1	0
CUL5	8065	broad.mit.edu	37	11	107925384	107925384	+	Silent	SNP	T	T	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:107925384T>C	ENST00000393094.2	+	6	1180	c.564T>C	c.(562-564)tgT>tgC	p.C188C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	188					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTAACCTTTGTTCTAATCCTG	0.289000													11	37					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	218920	218920	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:218920C>G	ENST00000403657.1	-	12	2770	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SH3YL1_ENST00000403658.1_Missense_Mutation_p.G192A|SH3YL1_ENST00000415006.2_Missense_Mutation_p.G211A|SH3YL1_ENST00000356150.5_Missense_Mutation_p.G307A|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403712.2_Missense_Mutation_p.G288A|SH3YL1_ENST00000405430.1_Missense_Mutation_p.G307A			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	307										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)		GATTCTGTCTCCAGCTTGAAA	0.398000													9	63					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51445984	51445984	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:51445984G>C	ENST00000418425.2	+	3	403	c.384G>C	c.(382-384)ttG>ttC	p.L128F	LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.L72F|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.L128F|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.L128F	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	128	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TGGAGCATTTGAGACAGGTAT	0.388000													7	32					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9134252	9134252	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr18:9134252G>C	ENST00000400033.1	+	9	851	c.734G>C	c.(733-735)gGa>gCa	p.G245A	NDUFV2_ENST00000318388.6_Missense_Mutation_p.G242A|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	242					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	AAGGGACCTGGATTTGGTGTA	0.363000													15	107					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107571826	107571826	+	Silent	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:107571826G>A	ENST00000393561.1	-	27	4768	c.4584C>T	c.(4582-4584)atC>atT	p.I1528I	LAMB1_ENST00000222399.6_Silent_p.I1504I|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1504	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATTTGCTTGATTAGATTTC	0.338000													12	51					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326218	57326218	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:57326218C>A	ENST00000326441.9	-	10	3955	c.3592G>T	c.(3592-3594)Gat>Tat	p.D1198Y	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1072Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1198Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D1074Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAAAACCATCATCACACCCC	0.478000													30	89					7.68411e-24	8.63988e-24	1	1	0
ABCB10	23456	broad.mit.edu	37	1	229654095	229654095	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:229654095C>T	ENST00000344517.4	-	13	2090	c.2048G>A	c.(2047-2049)aGa>aAa	p.R683K	ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	683	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TAACACCGTTCTTCCATCCAT	0.428000													7	33					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46072242	46072242	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:46072242G>C	ENST00000350030.3	+	5	475	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	NASP_ENST00000402363.3_Missense_Mutation_p.E132Q|NASP_ENST00000372052.4_Missense_Mutation_p.E103Q|NASP_ENST00000351223.3_Missense_Mutation_p.E130Q|NASP_ENST00000537798.1_Missense_Mutation_p.E66Q	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	130	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATCTCTGGTAGAAAATAATGA	0.418000													18	12					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599451	3599451	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:3599451G>A	ENST00000302006.3	+	2	441	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCCCGGGCGGCCCAAGAAC	0.652000													19	4					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707773	109707773	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr13:109707773G>T	ENST00000356711.2	+	27	3225	c.3099G>T	c.(3097-3099)aaG>aaT	p.K1033N	MYO16_ENST00000357550.2_Missense_Mutation_p.K1033N|MYO16_ENST00000457511.2_Missense_Mutation_p.K545N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1033	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AACTTCAGAAGTGCACTCCAC	0.378000													13	18					4.3838e-07	4.66398e-07	1	1	0
FOXJ2	55810	broad.mit.edu	37	12	8192631	8192631	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:8192631G>A	ENST00000162391.3	+	2	1348	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R68Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	68					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGCAAGCCACGATACAGCTAT	0.567000													12	23					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110438	106110438	+	RNA	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:106110438G>A	ENST00000390545.2	-	0	297																											CAACATTTGCGCTCTGCAGAG	0.602000													25	78					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5365865	5365865	+	Splice_Site	SNP	A	A	T			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:5365865A>T	ENST00000225296.3	-	3	652	c.452T>A	c.(451-453)gTt>gAt	p.V151D	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	151	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTATAGCCAACCTGTGCAGG	0.473000													8	56					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797967	55797967	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:55797967G>A	ENST00000313555.1	+	1	73	c.73G>A	c.(73-75)Gtc>Atc	p.V25I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACCTCTCAGAGTCACACTGTT	0.348000													11	42					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592846	158592847	+	Frame_Shift_Ins	INS	-	-	A	rs78394850	by1000genomes	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr1:158592846_158592847insA	ENST00000368147.4	-	43	6226_6227	c.6046_6047insT	c.(6046-6048)cgcfs	p.R2016fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAGA	0.475													104	452	---	---	---	---					
IGKV2D-29	28882	broad.mit.edu	37	2	89986431	89986431	+	RNA	DEL	G	G	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:89986431delG	ENST00000491977.1	+	0	79																											GGGAGGAGGAGGGGGTGGGAA	0.527													10	58	---	---	---	---					
NOP58	51602	broad.mit.edu	37	2	203160445	203160464	+	Frame_Shift_Del	DEL	TTGGAGCTGAAAAGGCACTT	TTGGAGCTGAAAAGGCACTT	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr2:203160445_203160464delTTGGAGCTGAAAAGGCACTT	ENST00000264279.5	+	10	1182_1201	c.956_975delTTGGAGCTGAAAAGGCACTT	c.(955-975)cttggagctgaaaaggcacttfs	p.LGAEKAL319fs		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	319	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GTTCAGATTCTTGGAGCTGAAAAGGCACTTTTCAGAGCCC	0.418													22	59	---	---	---	---					
CLCN2	1181	broad.mit.edu	37	3	184070896	184070896	+	Frame_Shift_Del	DEL	C	C	-	rs143415674		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr3:184070896delC	ENST00000265593.4	-	18	2239	c.2068delG	c.(2068-2070)gagfs	p.E690fs	CLCN2_ENST00000457512.1_Frame_Shift_Del_p.E690fs|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.E646fs|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.E673fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	690						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGTGGGTCTCCCCCCGGGCT	0.622													30	118	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.A218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													7	85	---	---	---	---					
PCDHB12	56124	broad.mit.edu	37	5	140589414	140589414	+	Translation_Start_Site	DEL	T	T	-	rs61729948	byFrequency	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr5:140589414delT	ENST00000541609.1	+	0	268				PCDHB12_ENST00000239450.2_Frame_Shift_Del_p.I312fs			Q9Y5F1	PCDBC_HUMAN							homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAAGCAATTGAGTCATAC	0.383													23	44	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													7	619	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767611	66767611	+	RNA	DEL	T	T	-	rs12531701	by1000genomes	TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr7:66767611delT	ENST00000416602.2	+	0	4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACCGGACTGCTTTTTTTTTTT	0.542													3	3	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													5	4	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274142	119274144	+	RNA	DEL	TTT	TTT	-	rs66493459		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr11:119274142_119274144delTTT	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NR_034160.1																						AGTGTTTAAGttttttttttttt	0.345													2	4	---	---	---	---					
ZCRB1	85437	broad.mit.edu	37	12	42717817	42717819	+	Splice_Site	DEL	TTA	TTA	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr12:42717817_42717819delTTA	ENST00000266529.3	-	2	268		c.e2+1		ZCRB1_ENST00000552673.1_Intron|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TAAGATTTACTTACCCGGTACAA	0.350													13	64	---	---	---	---					
CTAGE5	4253	broad.mit.edu	37	14	39782605	39782606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr14:39782605_39782606insA	ENST00000553728.1	+	18	3073_3074	c.2860_2861insA	c.(2860-2862)gaafs	p.E954fs	CTAGE5_ENST00000557038.1_Frame_Shift_Ins_p.E339fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.E390fs|CTAGE5_ENST00000556148.1_Frame_Shift_Ins_p.E344fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.E407fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.E424fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.E419fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.E419fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.E390fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.E419fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.E390fs																							TAAAGTAGATGAAAAGATCAGC	0.297													8	43	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	27	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70066043	70066043	+	RNA	DEL	A	A	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr16:70066043delA	ENST00000531894.1	-	0	751					NR_003610.1																						AGCCAAGCCGAAAAAAAAAAA	0.289													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577022	7577023	+	Frame_Shift_Ins	INS	-	-	C	rs121913344		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr17:7577022_7577023insC	ENST00000420246.2	-	8	1047_1048	c.915_916insG	c.(913-918)aagcgafs	p.R306fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.R306fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R306fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R306fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R306fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.K305N(3)|p.?(3)|p.K305*(2)|p.R306fs*39(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTCC	0.559	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			50	13	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr19:39019604_39019606delAGG	ENST00000355481.4	+	75	11164_11166	c.11033_11035delAGG	c.(11032-11037)caggag>cag	p.E3684del	RYR1_ENST00000360985.3_In_Frame_Del_p.E3689del|RYR1_ENST00000359596.3_In_Frame_Del_p.E3689del	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGggagcaggaggaggagga	0.576													2	4	---	---	---	---					
LIPI	149998	broad.mit.edu	37	21	15561473	15561475	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr21:15561473_15561475delTCT	ENST00000344577.2	-	2	400_402	c.375_377delAGA	c.(373-378)gaagat>gat	p.E125del	LIPI_ENST00000536861.1_In_Frame_Del_p.E104del	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TACATTCATATCTTCTTCATTCA	0.394													10	44	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	GG	rs72549352		TCGA-XF-AAMG-01A-11D-A42E-08	TCGA-XF-AAMG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a75c18e-b209-4ccc-951f-50f8a473e00e	a829226a-2f5a-4990-be72-1f06b5bca428	g.chr22:42524213_42524214insGG	ENST00000360608.5	-	5	919_920	c.805_806insCC	c.(805-807)cgafs	p.R269fs	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|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			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													2	4	---	---	---	---