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
PAN2	9924	broad.mit.edu	37	12	56720454	56720454	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:56720454G>A	ENST00000425394.2	-	7	1585	c.1209C>T	c.(1207-1209)acC>acT	p.T403T	PAN2_ENST00000440411.3_Silent_p.T403T|PAN2_ENST00000548043.1_Silent_p.T403T|PAN2_ENST00000257931.5_Silent_p.T403T	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	403					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GTGTGTCAGTGGTGAGTGGGA	0.592000													9	10					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209110083	209110083	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:209110083G>T	ENST00000415913.1	-	5	861	c.480C>A	c.(478-480)gaC>gaA	p.D160E	IDH1_ENST00000345146.2_Missense_Mutation_p.D160E|IDH1_ENST00000446179.1_Missense_Mutation_p.D160E	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	160					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TTTGGGTTCCGTCACTTGGTG	0.348000			Mis		gliobastoma								35	47					5.71845e-15	6.20819e-15	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48226615	48226615	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:48226615C>G	ENST00000394747.1	-	19	2871	c.2522G>C	c.(2521-2523)cGa>cCa	p.R841P	ABCC11_ENST00000353782.5_Missense_Mutation_p.R841P|ABCC11_ENST00000356608.2_Missense_Mutation_p.R841P|ABCC11_ENST00000394748.1_Missense_Mutation_p.R841P|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	841	ABC transmembrane type-1 2.					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)				ATTGCTCTCTCGGCTGCTATT	0.562000													14	37					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000													8	65					0.307466	0.308181	1	1	0
HDHD3	81932	broad.mit.edu	37	9	116135977	116135977	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:116135977C>T	ENST00000238379.5	-	2	1555	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	HDHD3_ENST00000374180.3_Missense_Mutation_p.V220M	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	220							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						TCCCTGACCACGGGGTCCAGT	0.602000													18	58					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104074377	104074377	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:104074377C>T	ENST00000265148.3	-	25	3153	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	CENPE_ENST00000380026.3_Missense_Mutation_p.E997K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1022					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTTAGCTTCCAAATCCTGT	0.269000													21	4					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31619538	31619538	+	Translation_Start_Site	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:31619538C>T	ENST00000404765.2	-	2	292	c.3G>A	c.(1-3)atG>atA	p.M1I	BAG6_ENST00000211379.5_Start_Codon_SNP_p.M1I|BAG6_ENST00000362049.6_Start_Codon_SNP_p.M1I|BAG6_ENST00000439687.2_Start_Codon_SNP_p.M1I|BAG6_ENST00000375976.4_Start_Codon_SNP_p.M1I|BAG6_ENST00000375964.6_Start_Codon_SNP_p.M1I			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATTAGGCTCCATGGCCGACA	0.537000													17	26					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41721003	41721003	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:41721003C>T	ENST00000318579.4	-	2	914	c.495G>A	c.(493-495)ccG>ccA	p.P165P	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.P50P	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	165						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TGCTGCCCTCCGGCTTCCCTC	0.582000													10	6					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	22					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28230225	28230225	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:28230225G>A	ENST00000354638.3	-	13	1504	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	OCA2_ENST00000353809.5_Missense_Mutation_p.T426M|OCA2_ENST00000382996.2_Missense_Mutation_p.T450M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	450					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTCACAGGCGTGAAGAGGAG	0.622000									Oculocutaneous Albinism				8	9					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145010135	145010135	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:145010135C>G	ENST00000322810.4	-	6	1063	c.894G>C	c.(892-894)aaG>aaC	p.K298N	PLEC_ENST00000354589.3_Missense_Mutation_p.K161N|PLEC_ENST00000356346.3_Missense_Mutation_p.K147N|PLEC_ENST00000345136.3_Missense_Mutation_p.K161N|PLEC_ENST00000527096.1_Missense_Mutation_p.K188N|PLEC_ENST00000354958.2_Missense_Mutation_p.K139N|PLEC_ENST00000436759.2_Missense_Mutation_p.K188N|PLEC_ENST00000357649.2_Missense_Mutation_p.K165N|PLEC_ENST00000398774.2_Missense_Mutation_p.K129N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	298	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTTCTCCTTGGCCGTCA	0.617000													12	8					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910297	129910297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:129910297C>T	ENST00000368654.3	-	10	2357	c.1982G>A	c.(1981-1983)tGg>tAg	p.W661*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.W301*|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	661					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)				TACATCTGCCCATGATTTTGC	0.338000													33	51					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880588	89880588	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:89880588A>G	ENST00000534061.1	+	3	515	c.285A>G	c.(283-285)ctA>ctG	p.L95L	NAALAD2_ENST00000525171.1_Silent_p.L95L|NAALAD2_ENST00000321955.4_Silent_p.L95L|NAALAD2_ENST00000375944.3_Silent_p.L95L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	95					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATTTGGACTAGATTCAGCCA	0.373000													29	54					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119453	65119453	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:65119453T>C	ENST00000371073.2	+	11	1553	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	CACHD1_ENST00000290039.5_Missense_Mutation_p.M467T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	518	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TATACACTTATGCACCCATCT	0.358000													65	86					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109492688	109492688	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:109492688G>A	ENST00000295124.4	+	15	2037	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	CCDC138_ENST00000412964.2_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	659										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTAACTCCCTGGTCTCCAGTG	0.333000													28	46					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114246640	114246640	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:114246640G>A	ENST00000259335.4	-	2	272	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACACGCCTGTCCAAAGGAA	0.697000													5	13					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42571355	42571355	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:42571355G>A	ENST00000372901.1	+	5	819	c.561G>A	c.(559-561)gtG>gtA	p.V187V	UBR2_ENST00000372903.2_Silent_p.V187V|UBR2_ENST00000372899.1_Silent_p.V187V			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	187					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CAGAAGATGTGATAGCAAGAA	0.318000													30	33					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823329	70823329	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:70823329C>T	ENST00000353151.3	-	5	349	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	113					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGGCATCACTCTGCCCTTAGT	0.473000													19	26					0	0	1	0	0
TMEM80	283232	broad.mit.edu	37	11	702998	702998	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:702998C>G	ENST00000608174.1	+	5	492	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	TMEM80_ENST00000397512.3_Missense_Mutation_p.L111V|TMEM80_ENST00000397510.3_Missense_Mutation_p.L167V	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCTGGCCCTCACGGCTGG	0.687000													8	6					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16881165	16881165	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:16881165C>T	ENST00000380087.2	-	3	580	c.220G>A	c.(220-222)Gag>Aag	p.E74K	RBBP7_ENST00000380084.4_Missense_Mutation_p.E118K|RBBP7_ENST00000404022.1_Missense_Mutation_p.E74K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	74					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TGATTCTGCTCATCAGACGTA	0.418000													49	66					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55757805	55757805	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:55757805C>T	ENST00000374941.4	+	5	891	c.302C>T	c.(301-303)aCc>aTc	p.T101I	RRAGB_ENST00000262850.7_Missense_Mutation_p.T129I	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	129					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						AGGCAAGACACCTTCATGGAA	0.373000													6	12					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025366	79025366	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:79025366A>G	ENST00000446378.2	+	2	809	c.778A>G	c.(778-780)Agg>Ggg	p.R260G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	260						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATACATTATAGGAAAGGGAA	0.318000													12	17					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828789	76828789	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:76828789C>T	ENST00000248598.5	-	1	354	c.322G>A	c.(322-324)Gac>Aac	p.D108N	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	108					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						CTGCCTGGGTCTCCGTTGTCA	0.473000													25	46					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219110158	219110158	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:219110158C>T	ENST00000295685.10	+	7	826	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.R189C	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	189					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CAAAGAAGGACGCAGAGCCAG	0.517000													17	40					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628225	29628225	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:29628225A>G	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTTTCACTTAGGGGAAAATG	0.358000													4	75					0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413240	38413240	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:38413240C>A	ENST00000377694.1	-	3	703	c.681G>T	c.(679-681)tgG>tgT	p.W227C		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	227	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TCACCAAAATCCAGGCCGTGG	0.468000													14	22					9.16793e-09	9.54439e-09	1	1	0
RB1	5925	broad.mit.edu	37	13	48953729	48953729	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr13:48953729G>A	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTTTGTAGCGATACAAAC	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			31	24					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538083	58538083	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:58538083C>A	ENST00000394282.4	+	5	716	c.309C>A	c.(307-309)ttC>ttA	p.F103L	NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.F69L|NDRG4_ENST00000562999.1_Missense_Mutation_p.F51L|NDRG4_ENST00000563799.1_Missense_Mutation_p.F69L|NDRG4_ENST00000570248.1_Missense_Mutation_p.F51L|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000356752.4_Missense_Mutation_p.F81L|NDRG4_ENST00000566192.1_Missense_Mutation_p.F51L|NDRG4_ENST00000394279.2_Missense_Mutation_p.F83L|NDRG4_ENST00000258187.5_Missense_Mutation_p.F83L	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	51					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ACACCTTCTTCAACTTCGAGG	0.587000													27	29					1.39806e-14	1.51018e-14	1	1	0
GREB1	9687	broad.mit.edu	37	2	11727532	11727532	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:11727532T>A	ENST00000263834.5	+	10	1611	c.1184T>A	c.(1183-1185)aTg>aAg	p.M395K	GREB1_ENST00000234142.5_Intron|GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron	NM_148903.2	NP_683701.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		gctacccaaatggtagccctt	0.493000													33	36					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866722	140866722	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:140866722T>C	ENST00000306593.1	+	1	1982	c.1982T>C	c.(1981-1983)cTc>cCc	p.L661P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTACTCTCTTAGTGTCC	0.507000													7	13					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52747474	52747474	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:52747474G>C	ENST00000287727.3	+	10	3183	c.3011G>C	c.(3010-3012)cGg>cCg	p.R1004P	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R1004P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R945P			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1004					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						CAGCTTTATCGGGATGCTCTG	0.368000													58	74					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600295	54600295	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:54600295C>G	ENST00000284648.6	-	4	424	c.227G>C	c.(226-228)cGg>cCg	p.R76P	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Missense_Mutation_p.R76P|OSCAR_ENST00000356532.3_Missense_Mutation_p.R80P|OSCAR_ENST00000351806.4_Missense_Mutation_p.R65P|OSCAR_ENST00000391761.1_Missense_Mutation_p.R65P|OSCAR_ENST00000359649.4_Missense_Mutation_p.R80P			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	76	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGACACATCCCGGAAGAGAAG	0.602000													25	9					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2746181	2746181	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:2746181G>T	ENST00000510267.1	-	5	1065	c.638C>A	c.(637-639)gCt>gAt	p.A213D	TNIP2_ENST00000315423.7_Missense_Mutation_p.A320D|TNIP2_ENST00000503235.1_Missense_Mutation_p.A237D|TNIP2_ENST00000505186.1_5'UTR	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	320						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTACTTTGAGCCCGTTCCCG	0.512000													18	39					9.16793e-09	9.54439e-09	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67108393	67108393	+	Missense_Mutation	SNP	T	T	G	rs112906363	byFrequency	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:67108393T>G	ENST00000284425.2	-	16	2237	c.2063A>C	c.(2062-2064)aAt>aCt	p.N688T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	688	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAGTCTCCCATTGGACATGAT	0.388000													64	191					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150418853	150418853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:150418853C>A	ENST00000401000.4	+	6	833	c.768C>A	c.(766-768)taC>taA	p.Y256*	RPRD2_ENST00000369068.4_Nonsense_Mutation_p.Y282*|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Nonsense_Mutation_p.Y256*			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	282							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGCACAATACAAAGAAGTAA	0.333000													18	26					3.8784e-16	4.22119e-16	1	1	0
NIPSNAP1	8508	broad.mit.edu	37	22	29956774	29956774	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:29956774C>G	ENST00000216121.7	-	8	909	c.655G>C	c.(655-657)Ggc>Cgc	p.G219R		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	219								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AAGAAGCCGCCCACTGCCTCC	0.562000													22	134					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180217533	180217533	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:180217533C>G	ENST00000263726.2	+	2	434	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	64	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCAGATGCAGCTGGCGGACAG	0.592000													8	40					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32631587	32631587	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:32631587C>T	ENST00000421745.2	+	9	1573	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	480					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGGAGGATTCAGACAGTGAA	0.289000													17	23					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34125217	34125217	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:34125217A>G	ENST00000361264.4	-	2	478	c.137T>C	c.(136-138)tTa>tCa	p.L46S	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	46						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GTAGTATACTAAGGATCTCTT	0.463000													23	37					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415194	130415194	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:130415194G>A	ENST00000370904.1	-	15	2527	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	IGSF1_ENST00000370903.3_Silent_p.I548I|IGSF1_ENST00000361420.3_Silent_p.I548I|IGSF1_ENST00000370910.1_Silent_p.I539I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	548					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACAGTTACCTGATTCTGAGTC	0.488000													51	84					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966616	25966616	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:25966616T>G	ENST00000435504.4	-	13	2883	c.2590A>C	c.(2590-2592)Aat>Cat	p.N864H	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.N836H			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGGTATATTCTTACTAGGA	0.478000													44	53					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757856	74757856	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:74757856C>G	ENST00000258080.3	+	2	1249	c.619C>G	c.(619-621)Cgt>Ggt	p.R207G	HTRA2_ENST00000352222.3_Missense_Mutation_p.R207G|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	207	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCGCAGAGTCCGTGTGAGACT	0.622000													19	18					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4524102	4524102	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:4524102C>T	ENST00000574733.1	-	2	761	c.32G>A	c.(31-33)gGa>gAa	p.G11E	NMRAL1_ENST00000404295.3_Missense_Mutation_p.G11E|NMRAL1_ENST00000574425.1_Missense_Mutation_p.G11E|NMRAL1_ENST00000283429.6_Missense_Mutation_p.G11E			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	11						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						ACCTGTGCCTCCGAAAACCAC	0.632000													11	7					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31435476	31435476	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:31435476A>G	ENST00000389202.2	+	28	3262	c.3213A>G	c.(3211-3213)acA>acG	p.T1071T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1071					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTTCGACACATCCGTGTACT	0.562000													18	30					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109337506	109337506	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:109337506G>A	ENST00000370008.3	+	13	1137	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	363					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GCTTAATATAGAAAAGCTCTG	0.313000													22	27					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950448	38950448	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:38950448G>A	ENST00000357387.3	-	31	3532	c.3502C>T	c.(3502-3504)Cac>Tac	p.H1168Y	RICTOR_ENST00000296782.5_Missense_Mutation_p.H1168Y	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1168					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCTTCAATGTGCTTATTCCCC	0.363000													46	90					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28339805	28339805	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:28339805C>A	ENST00000373871.3	-	9	826	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	EYA3_ENST00000545175.1_Splice_Site_p.D143Y|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Splice_Site_p.D150Y|EYA3_ENST00000373864.1_Splice_Site_p.D40Y|EYA3_ENST00000436342.2_Splice_Site_p.D70Y|EYA3_ENST00000540618.1_Splice_Site_p.D150Y	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	196					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)		GTGGGATAATCCTGCAGGCCA	0.413000													19	30					1.96292e-10	2.08379e-10	1	1	0
CDH19	28513	broad.mit.edu	37	18	64172435	64172435	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr18:64172435C>T	ENST00000262150.2	-	12	2225	c.1933G>A	c.(1933-1935)Ggg>Agg	p.G645R	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTCCACCCCCTTCATCATCA	0.398000													13	83					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072076	220072076	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:220072076G>A	ENST00000409594.1	+	2	278	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	ZFAND2B_ENST00000409097.1_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.C28Y|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.C28Y			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	28						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGATGCCTGCTCAGGCATC	0.552000													37	49					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130471897	130471897	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:130471897G>A	ENST00000373295.2	+	2	398	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	120										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGATGCCTTCGAGGCGCAGCT	0.597000													11	21					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226551719	226551719	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:226551719C>G	ENST00000366794.5	-	20	2854	c.2711G>C	c.(2710-2712)aGt>aCt	p.S904T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	904	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTAGTTGGCACTCTTGGAGAC	0.483000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					21	21					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950451	38950451	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:38950451T>C	ENST00000357387.3	-	31	3529	c.3499A>G	c.(3499-3501)Aag>Gag	p.K1167E	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1167E	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1167					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCAATGTGCTTATTCCCCATA	0.363000													47	86					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705803	77705803	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:77705803C>T	ENST00000298351.4	+	11	918	c.774C>T	c.(772-774)gaC>gaT	p.D258D		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	258						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCTGCTACGACGTCAGGAACC	0.622000													14	27					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77284936	77284936	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:77284936C>T	ENST00000341514.6	+	15	3261	c.3106C>T	c.(3106-3108)Cat>Tat	p.H1036Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.H958Y|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1036					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGAGATGGCTCATAAGGTAAG	0.453000													34	50					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83674057	83674057	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:83674057G>A	ENST00000398309.2	-	9	1366	c.896C>T	c.(895-897)cCa>cTa	p.P299L	DLG2_ENST00000398301.2_Missense_Mutation_p.P338L|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.P404L|DLG2_ENST00000330014.6_Missense_Mutation_p.P238L|DLG2_ENST00000280241.8_Missense_Mutation_p.P338L|DLG2_ENST00000532653.1_Missense_Mutation_p.P299L|DLG2_ENST00000418306.2_Missense_Mutation_p.P248L|DLG2_ENST00000376104.2_Missense_Mutation_p.P404L|DLG2_ENST00000524982.1_Missense_Mutation_p.P299L|DLG2_ENST00000537455.1_Missense_Mutation_p.P53L|DLG2_ENST00000531015.1_Missense_Mutation_p.P266L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	299						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)				TTCCATTGGTGGAGAATAAGC	0.403000													37	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621161	179621161	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:179621161C>G	ENST00000589042.1	-	46	11266	c.11042G>C	c.(11041-11043)tGt>tCt	p.C3681S	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.C3510S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3366	Ig-like 22.						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)			TTTTAAAACACAGAGGAATTG	0.433000													12	22					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000													60	21					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67686427	67686427	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:67686427A>G	ENST00000545606.1	+	3	675	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	80					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGTAAAGTGAAAGAATACCA	0.318000													17	26					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650296	75650296	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:75650296G>A	ENST00000361470.2	+	1	2251	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	658	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R658I(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGGGGCCCAAGATCCCACCTA	0.428000													9	27					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45924697	45924697	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:45924697C>T	ENST00000536300.1	-	2	1430	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	SP6_ENST00000342234.2_Missense_Mutation_p.E367K	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCTCGGCCTCGCGTTTGCCT	0.731000													2	2					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152346493	152346493	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:152346493T>A	ENST00000397345.3	-	181	25598	c.25396A>T	c.(25396-25398)Act>Tct	p.T8466S	NEB_ENST00000172853.10_Missense_Mutation_p.T6610S|NEB_ENST00000397336.2_Missense_Mutation_p.T441S|NEB_ENST00000509223.2_Missense_Mutation_p.T379S|NEB_ENST00000604864.1_Missense_Mutation_p.T8466S|NEB_ENST00000603639.1_Missense_Mutation_p.T8466S|NEB_ENST00000409198.1_Missense_Mutation_p.T6610S|NEB_ENST00000427231.2_Missense_Mutation_p.T8466S|RIF1_ENST00000457745.1_Intron	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6610					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCCAGCAGTAGATGGATGA	0.348000													41	72					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224519	2224519	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:2224519G>A	ENST00000399655.1	+	2	444	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CACNA1C_ENST00000347598.4_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R60Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R60Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R60Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	60					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GACGCAGCCCGGCAGGCTAAG	0.662000													3	9					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554975	182554975	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:182554975G>A	ENST00000367559.3	-	2	1220	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	RNASEL_ENST00000539397.1_Missense_Mutation_p.H323Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.H323Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	323					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTGGCTCCATGAGAGAGAAGA	0.522000													61	36					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86669222	86669222	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:86669222C>T	ENST00000409556.1	+	3	417	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	KDM3A_ENST00000542128.1_Missense_Mutation_p.L18F|KDM3A_ENST00000312912.5_Missense_Mutation_p.L18F|KDM3A_ENST00000409064.1_Missense_Mutation_p.L18F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	18					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGGAGGTTTCTCAGTCTGTC	0.617000													14	24					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815061	152815061	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:152815061G>A	ENST00000370186.1	+	9	1729	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	ATP2B3_ENST00000359149.3_Missense_Mutation_p.R482H|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R482H|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R468H|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R482H|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R468H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	482					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACCAACCGTATGACCGTG	0.607000													20	40					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20616192	20616192	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:20616192G>A	ENST00000202677.7	-	9	882	c.875C>T	c.(874-876)aCa>aTa	p.T292I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAATCTTTGTACTGTAAAT	0.353000													56	54					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155884095	155884095	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:155884095C>T	ENST00000368321.3	-	14	1685	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	554										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TAGTTTTCATCTTCTTGGCTG	0.378000													10	40					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93174083	93174083	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:93174083G>A	ENST00000322349.8	-	24	3705	c.3441C>T	c.(3439-3441)ctC>ctT	p.L1147L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1147	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTGGGACTTGAGTTCTTCGT	0.303000													25	31					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883488	12883488	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:12883488C>T	ENST00000379672.5	+	19	2177	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P620L|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P626L|ARHGAP44_ENST00000578087.1_3'UTR	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGAGCTCAGCCGGGCGCCAGC	0.647000													12	6					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133911088	133911088	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:133911088G>T	ENST00000220616.4	+	14	3303	c.3263G>T	c.(3262-3264)aGt>aTt	p.S1088I	TG_ENST00000377869.1_Missense_Mutation_p.S1088I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1088	Thyroglobulin type-1 9.				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)		CTGCTTTCCAGTTGGAAACAG	0.547000													22	16					3.6726e-16	4.00732e-16	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604194	140604194	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:140604194C>G	ENST00000239449.4	+	1	1117	c.1117C>G	c.(1117-1119)Caa>Gaa	p.Q373E	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q220E	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCTAGACCAAGACTCTGG	0.413000													29	36					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519598	67519598	+	Silent	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:67519598C>G	ENST00000235345.5	-	1	184	c.99G>C	c.(97-99)tcG>tcC	p.S33S		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	33					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GCGTTTCGGCCGACGCCATCC	0.582000													10	18					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327158	43327158	+	Missense_Mutation	SNP	T	T	C	rs111648364		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:43327158T>C	ENST00000380486.3	-	10	1502	c.1261A>G	c.(1261-1263)Act>Gct	p.T421A	C2CD2_ENST00000329623.7_Missense_Mutation_p.T266A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	421						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TTCACAGCAGTGACAGTAGTG	0.577000													17	32					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667189	56667189	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:56667189G>A	ENST00000431842.2	-	11	3243	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	FAM208A_ENST00000493960.2_Silent_p.S1210S|FAM208A_ENST00000355628.5_Silent_p.S1149S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1210										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTCTAACTGGCTTATAAAAT	0.363000													99	23					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715251	70715251	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:70715251C>T	ENST00000226444.3	-	5	512	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAAACAGCCACATCCTTTGCA	0.353000													18	21					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40660945	40660945	+	Silent	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:40660945T>C	ENST00000454349.2	+	5	922	c.711T>C	c.(709-711)agT>agC	p.S237S	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.S237S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	237					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCACCACTAGTAACAAAGGAA	0.483000													29	39					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	328					0	0	1	0	0
EID3	493861	broad.mit.edu	37	12	104697733	104697733	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:104697733G>A	ENST00000527879.1	+	1	217	c.21G>A	c.(19-21)gtG>gtA	p.V7V	TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATGTGTCAGTGAGGGCCGCGG	0.642000													5	6					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207314569	207314569	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:207314569G>A	ENST00000367070.3	+	10	1586	c.1392G>A	c.(1390-1392)gcG>gcA	p.A464A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	464	Sushi 7.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.A464A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCGGACAGGCGAAACTCTCCT	0.423000													10	27					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64082363	64082363	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:64082363C>G	ENST00000508024.1	+	6	709	c.508C>G	c.(508-510)Cct>Gct	p.P170A	CWC27_ENST00000381070.3_Missense_Mutation_p.P170A			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	170					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TTTGTTTAATCCTTTTGATGA	0.308000													12	22					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543902	10543902	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:10543902T>A	ENST00000583535.1	-	20	2354	c.2267A>T	c.(2266-2268)cAg>cTg	p.Q756L	MYH3_ENST00000226209.7_Missense_Mutation_p.Q756L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	756	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAATTTGTACTGAGTGTGGTC	0.458000													22	44					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101445848	101445848	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:101445848G>T	ENST00000329841.5	+	10	1721	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V290F|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	397					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CAAACCCACTGTCTTCTCAGA	0.542000													20	20					8.10497e-08	8.3371e-08	1	1	0
NVL	4931	broad.mit.edu	37	1	224495740	224495740	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:224495740G>A	ENST00000281701.6	-	6	827	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	NVL_ENST00000469075.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000361463.3_Silent_p.L84L|NVL_ENST00000391875.2_Silent_p.L84L|NVL_ENST00000482491.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	190						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCACATGACAGGTCCAAGAAA	0.383000													34	15					0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2770476	2770476	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:2770476G>A	ENST00000380769.4	+	3	708	c.477G>A	c.(475-477)aaG>aaA	p.K159K	WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380771.4_Silent_p.K354K|WRNIP1_ENST00000380773.4_Silent_p.K379K			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	379					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTCTTGAGAAGCTTCCAGTAG	0.522000													27	35					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35497301	35497301	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:35497301C>T	ENST00000556994.1	+	16	1732	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	SRP54_ENST00000216774.6_Silent_p.D445D|SRP54_ENST00000546080.1_Silent_p.D396D|SRP54_ENST00000555557.1_Silent_p.D381D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	445	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CAGGTGGCGACATGTCTAAGA	0.383000													16	38					0	0	1	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111201	22111201	+	RNA	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:22111201A>T	ENST00000390423.2	+	0	93																											AGATGTGGGGAGTTTTCCTTC	0.458000													4	19					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553842	150553842	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:150553842G>A	ENST00000493429.1	+	4	868	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	AOC1_ENST00000416793.2_Missense_Mutation_p.R95Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R95Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R95Q					amine oxidase, copper containing 1																		CATCCTGTGCGGGAAGCCCGT	0.567000													22	43					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978982	119978982	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:119978982A>G	ENST00000307142.4	+	5	3875	c.3679A>G	c.(3679-3681)Aga>Gga	p.R1227G	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGCTTCAAGAAATGATTC	0.438000													53	13					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5574005	5574005	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:5574005G>A	ENST00000379019.4	-	4	411	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	67	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTGAAGTAGCGATACTGAACT	0.358000													34	74					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31570424	31570424	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:31570424G>A	ENST00000399332.1	-	42	8145	c.7657C>T	c.(7657-7659)Ctg>Ttg	p.L2553L	HECTD1_ENST00000553700.1_Silent_p.L2553L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2553	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGTTAGCCAGTCCACCTGGG	0.443000													20	29					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216284073	216284073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:216284073G>A	ENST00000354785.4	-	12	2080	c.1711C>T	c.(1711-1713)Caa>Taa	p.Q571*	FN1_ENST00000359671.1_Nonsense_Mutation_p.Q571*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q571*|FN1_ENST00000426059.1_Nonsense_Mutation_p.Q571*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q571*|FN1_ENST00000421182.1_Nonsense_Mutation_p.Q571*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q571*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q571*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q571*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q571*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q571*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q571*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q571*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q571*			P02751	FINC_HUMAN	fibronectin 1	571	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCAATTTGATAAAACGTC	0.428000													23	27					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174218	112174218	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:112174218G>A	ENST00000457016.1	+	16	3307	c.2927G>A	c.(2926-2928)aGa>aAa	p.R976K	APC_ENST00000257430.4_Missense_Mutation_p.R976K|APC_ENST00000508376.2_Missense_Mutation_p.R976K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	976	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R976fs*9(3)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGTAAAAGAGGTCAAATG	0.353000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			18	26					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789825	92789825	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:92789825G>C	ENST00000610020.1	+	8	1457	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GCCAAGTTACGAGAATTTGAA	0.423000													21	20					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567000													20	13					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37581181	37581181	+	Silent	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:37581181G>T	ENST00000399151.3	+	5	745	c.660G>T	c.(658-660)ctG>ctT	p.L220L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	220					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L220L(1)		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						AGTACATGCTGGGGACCAATC	0.637000													3	16					0.004672	0.00471577	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64691243	64691243	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:64691243C>T	ENST00000357395.3	+	114	20677	c.9533C>T	c.(9532-9534)tCc>tTc	p.S3178F	SYNE2_ENST00000458046.2_Missense_Mutation_p.S464F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3450F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6793F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6709F|SYNE2_ENST00000554805.1_Missense_Mutation_p.S576F|SYNE2_ENST00000555022.1_Missense_Mutation_p.S671F|SYNE2_ENST00000441438.2_Missense_Mutation_p.S338F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S3178F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6816F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6793					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)		CCTGCAACATCCGTGCCAGCT	0.532000													23	35					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780434	107780434	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:107780434G>A	ENST00000369037.4	-	1	333	c.56C>T	c.(55-57)tCc>tTc	p.S19F	PDSS2_ENST00000369031.4_Missense_Mutation_p.S19F|PDSS2_ENST00000453874.2_Missense_Mutation_p.S19F	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	19					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCGACGCGGGGAACCCGAGGC	0.617000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	5					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51720689	51720689	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:51720689A>G	ENST00000371117.3	-	49	8187		c.e49+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTTGGGTTACCTGCAGAGA	0.428000													25	34					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91404997	91404997	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:91404997A>G	ENST00000307534.4	-	1	218	c.63T>C	c.(61-63)agT>agC	p.S21S		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	21					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CGCCTCCCAGACTGGTCCCCG	0.682000													10	8					0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57021020	57021020	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:57021020C>T	ENST00000374919.3	-	2	683	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	121					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAGTGTGTATCACTGATTCTA	0.403000													35	120					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406692	38406692	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:38406692T>C	ENST00000361085.5	+	7	958	c.613T>C	c.(613-615)Tgt>Cgt	p.C205R	ZNF37A_ENST00000351773.3_Missense_Mutation_p.C205R	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TGGTAATGAATGTGGAGAAAA	0.383000													22	32					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77367233	77367233	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:77367233C>T	ENST00000451710.3	-	29	5195	c.4958G>A	c.(4957-4959)tGt>tAt	p.C1653Y	TRPM6_ENST00000376872.3_Missense_Mutation_p.C604Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.C1648Y|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.C1648Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.C1653Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.C1653Y			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1653					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						TTGTATAGCACATTGTCCAAT	0.318000													7	17					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138901550	138901550	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:138901550C>G	ENST00000370557.1	-	3	1211	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	ATP11C_ENST00000327569.3_Missense_Mutation_p.E65Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.E65Q|ATP11C_ENST00000361648.2_Missense_Mutation_p.E65Q|ATP11C_ENST00000359686.2_Missense_Mutation_p.E65Q			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	65					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTAAACTGTTCAAACAGATTC	0.308000													8	15					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029374	41029374	+	Silent	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:41029374T>C	ENST00000324545.8	+	19	3396	c.2763T>C	c.(2761-2763)aaT>aaC	p.N921N	USP9X_ENST00000378308.2_Silent_p.N921N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTATTCTCAATCGTATTAAAG	0.408000													32	34					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43936862	43936862	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:43936862C>T	ENST00000343694.3	+	2	174	c.102C>T	c.(100-102)gaC>gaT	p.D34D	MATN4_ENST00000372751.4_5'UTR|RBPJL_ENST00000372741.3_Silent_p.D34D|MATN4_ENST00000537548.1_5'UTR|MATN4_ENST00000360607.6_5'UTR|MATN4_ENST00000342716.4_5'UTR|RBPJL_ENST00000372743.1_Silent_p.D34D|MATN4_ENST00000353917.5_5'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	34					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGAAGCCGACAGGCGGAGCC	0.647000													17	47					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179229066	179229066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:179229066G>A	ENST00000337755.5	-	1	932	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	MGAT4B_ENST00000521305.1_Intron|MGAT4B_ENST00000292591.7_Intron	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	0					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCACCTCTGCAATAGCTCA	0.567000											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	36					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55749282	55749282	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:55749282C>T	ENST00000349456.4	+	2	308	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	CCDC104_ENST00000339012.3_Missense_Mutation_p.H79Y|CCDC104_ENST00000403007.3_Missense_Mutation_p.H54Y|CCDC104_ENST00000407816.3_Missense_Mutation_p.H54Y|CCDC104_ENST00000406691.3_Missense_Mutation_p.H54Y			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	54										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACAGAGATTCATCAGGAATA	0.234000													18	34					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224568	26224568	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:26224568C>A	ENST00000056233.3	+	4	1509	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	417					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GAACCAGATTCTGATTCTGGC	0.363000													53	74					1.22102e-19	1.33908e-19	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1995157	1995157	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:1995157C>T	ENST00000382722.5	-	9	1404	c.1042G>A	c.(1042-1044)Gtc>Atc	p.V348I	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V284I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V284I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V264I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V348I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V348I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	348	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCGCCTGGACGAGGATCCCT	0.547000													3	12					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630032	128630032	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:128630032C>T	ENST00000393245.1	-	11	1956	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	TNPO3_ENST00000471234.1_Missense_Mutation_p.R494Q|TNPO3_ENST00000265388.5_Missense_Mutation_p.R494Q|TNPO3_ENST00000482320.1_Missense_Mutation_p.R428Q|TNPO3_ENST00000471166.1_Missense_Mutation_p.R528Q	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	494					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTGAGGATTTCGATCAACGAC	0.443000													25	25					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43190854	43190854	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:43190854A>G	ENST00000322765.5	-	13	2058	c.1945T>C	c.(1945-1947)Ttt>Ctt	p.F649L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	650	C2.				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)	TCGGGGTCAAAGGTCGAGTCA	0.607000													3	5					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290927	184290927	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:184290927C>T	ENST00000330394.2	+	3	1271	c.819C>T	c.(817-819)acC>acT	p.T273T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	273	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGTGCCACCGGCCATGAGC	0.662000													16	19					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429724	116429724	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:116429724T>C	ENST00000281928.3	-	17	3241	c.3035A>G	c.(3034-3036)tAt>tGt	p.Y1012C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1012					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTTCAGATAGTCTGGATC	0.542000													6	12					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687865	68687865	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:68687865G>A	ENST00000361320.4	+	2	1769	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	397						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTTGCCCCCGACGGTGGGAG	0.607000													15	19					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5103994	5103994	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:5103994A>G	ENST00000396912.1	+	5	1426	c.907A>G	c.(907-909)Acc>Gcc	p.T303A	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.T303A	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	303					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCAAAAGGGAACCCTCACTGT	0.418000													19	54					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	889761	889761	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:889761G>C	ENST00000467963.1	-	4	568	c.402C>G	c.(400-402)gcC>gcG	p.A134A	BRD9_ENST00000388890.4_Silent_p.A18A|BRD9_ENST00000483173.1_Splice_Site_p.P83R|BRD9_ENST00000323510.4_Silent_p.A18A|BRD9_ENST00000435709.2_Silent_p.A18A	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	134							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTCATTTTCGGCTGACAATT	0.468000													11	56					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664965	136664965	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:136664965C>A	ENST00000469404.1	+	2	666	c.575C>A	c.(574-576)aCt>aAt	p.T192N	NCK1_ENST00000288986.2_Missense_Mutation_p.T256N|NCK1_ENST00000481752.1_Missense_Mutation_p.T256N	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	256	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATCCATTAACTTCAGGTTTG	0.428000													40	59					2.6416e-12	2.83216e-12	1	1	0
C6orf120	387263	broad.mit.edu	37	6	170102812	170102812	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:170102812A>C	ENST00000332290.2	+	1	556	c.257A>C	c.(256-258)cAc>cCc	p.H86P	C6orf120_ENST00000439249.1_Missense_Mutation_p.H105P	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	86						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGCAGCCTGCACCCCAGCTTC	0.647000													24	10					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302807	104302807	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:104302807T>A	ENST00000389120.3	+	4	423	c.333T>A	c.(331-333)taT>taA	p.Y111*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	111					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTAAACGTTATGATCTGGAGC	0.433000													13	12					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80409453	80409453	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:80409453C>T	ENST00000286548.4	-	5	883	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	GNAQ_ENST00000397476.3_Missense_Mutation_p.E19K	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	221					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGACATTTTCAAAGCAGTGT	0.383000			Mis		uveal melanoma								28	41					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938743	101938743	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:101938743C>T	ENST00000348070.1	-	8	858	c.859G>A	c.(859-861)Gag>Aag	p.E287K	PCSK6_ENST00000331826.7_Missense_Mutation_p.E122K|PCSK6_ENST00000398181.2_Missense_Mutation_p.E287K|PCSK6_ENST00000344273.2_Missense_Mutation_p.E287K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.E287K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	288	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACTTTGCCTCGACCACATCT	0.652000													26	30					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603706	23603706	+	Silent	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:23603706G>C	ENST00000305877.8	+	4	2482	c.1731G>C	c.(1729-1731)gtG>gtC	p.V577V	BCR_ENST00000359540.3_Silent_p.V577V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	577	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGCAGCGGGTGGGCGACCTCT	0.552000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								30	16					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124179815	124179815	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:124179815G>A	ENST00000303372.5	+	11	1411	c.1283G>A	c.(1282-1284)gGt>gAt	p.G428D	TCTN2_ENST00000426174.2_Missense_Mutation_p.G427D	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	428					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TATAATAGTGGTAATGAAGAA	0.318000													29	58					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													19	26					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													3	22					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883980	105883980	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:105883980T>C	ENST00000393359.2	-	12	2869	c.2443A>G	c.(2443-2445)Aaa>Gaa	p.K815E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.K815E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	815					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CAAAGCTTTTTGTCTGAGAGT	0.428000													38	63					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688956	26688956	+	Missense_Mutation	SNP	G	G	A	rs147999138		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:26688956G>A	ENST00000529632.2	+	2	875	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SEZ6L_ENST00000343706.4_Missense_Mutation_p.D227N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D227N|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D227N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D227N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	227						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGGGCCTGACATGGCCCA	0.647000													18	54					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299201	117299201	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:117299201G>T	ENST00000321322.6	-	33	6186	c.6185C>A	c.(6184-6186)gCc>gAc	p.A2062D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1792D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2002					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCCGGAGGGGCAGCGCTGGG	0.726000													8	0					0.00307968	0.00311583	1	1	0
RAD54B	25788	broad.mit.edu	37	8	95384566	95384566	+	Silent	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:95384566T>A	ENST00000336148.5	-	15	2689	c.2565A>T	c.(2563-2565)ccA>ccT	p.P855P	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTGGTGATGTGGACCAAGCT	0.378000								Direct reversal of damage;Homologous recombination					16	76					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs10592951		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567000													19	10					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20837625	20837625	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:20837625G>C	ENST00000262715.5	-	53	7574	c.7534C>G	c.(7534-7536)Cca>Gca	p.P2512A	TEP1_ENST00000556935.1_Missense_Mutation_p.P2404A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2512					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)		TGGGTTTCTGGAGTGTTTGCT	0.507000													13	53					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640830	34640830	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:34640830G>A	ENST00000537011.1	+	3	1143	c.761G>A	c.(760-762)aGg>aAg	p.R254K	NUTM1_ENST00000333756.4_Missense_Mutation_p.R226K|NUTM1_ENST00000438749.3_Missense_Mutation_p.R244K	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		TTGGCCCGGAGGCACCTATCC	0.483000													30	36					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809163	18809163	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:18809163A>G	ENST00000400664.1	+	1	1740	c.1688A>G	c.(1687-1689)aAc>aGc	p.N563S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	563						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGCTACAACCCGCTCACG	0.682000													5	10					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													3	28					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78782821	78782821	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:78782821G>A	ENST00000258886.8	+	17	2283	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	712							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTTTCCATGGGACTTAAAGTC	0.323000													29	32					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88439911	88439911	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:88439911G>A	ENST00000429277.2	+	4	463	c.318G>A	c.(316-318)caG>caA	p.Q106Q	LDB3_ENST00000361373.4_Silent_p.Q106Q|LDB3_ENST00000263066.6_Silent_p.Q106Q|LDB3_ENST00000372056.4_Silent_p.Q106Q|LDB3_ENST00000310944.6_Silent_p.Q106Q|LDB3_ENST00000372066.3_Silent_p.Q106Q|LDB3_ENST00000542786.1_Silent_p.Q106Q|LDB3_ENST00000458213.2_Silent_p.Q106Q|LDB3_ENST00000352360.5_Silent_p.Q106Q	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	106						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCCCTCACCAGAAGGTAGGTG	0.612000													9	11					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121341722	121341722	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:121341722T>C	ENST00000369093.2	-	4	322	c.293A>G	c.(292-294)aAc>aGc	p.N98S	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.N81S	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	81	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGTTGCCCAGTTTACTTTGAC	0.343000													24	33					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125487359	125487359	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:125487359C>T	ENST00000303545.3	+	1	381	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	3					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCATGGCGGCCGTGGGGCCCC	0.776000													13	31					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903788	111903788	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:111903788C>A	ENST00000561981.2	-	4	696	c.697G>T	c.(697-699)Gca>Tca	p.A233S		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like		DOMON.					integral to membrane											ATCTCCTTTGCCCACTGGCCT	0.478000													33	83					1.22384e-17	1.33876e-17	1	1	0
TET1	80312	broad.mit.edu	37	10	70333766	70333766	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:70333766C>T	ENST00000373644.4	+	2	1880	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	557	Sufficient for binding to genomic CpG islands.				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						TTCATGTTGTCAACACCACAG	0.488000													37	54					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78272305	78272305	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:78272305C>A	ENST00000582970.1	+	11	2340	c.2197C>A	c.(2197-2199)Caa>Aaa	p.Q733K	RNF213_ENST00000456466.1_Missense_Mutation_p.Q733K|RNF213_ENST00000508628.2_Missense_Mutation_p.Q782K|RNF213_ENST00000319921.4_Missense_Mutation_p.Q733K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	733										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTCCGGGAACAAATGCTAGA	0.572000													9	10					4.68919e-08	4.83503e-08	1	1	0
BBS10	79738	broad.mit.edu	37	12	76742022	76742022	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:76742022C>T	ENST00000393262.3	-	1	200	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	39					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CAGTGGGCTTCGTACACAAAA	0.652000									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	3					0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698799	29698799	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:29698799C>T	ENST00000304863.4	-	2	903	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	161					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTCTTGCCTTCTGGAATATCG	0.473000													34	21					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105174267	105174267	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:105174267C>T	ENST00000392634.4	+	8	1775	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	INF2_ENST00000330634.7_Missense_Mutation_p.R555W	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	555	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCCAGCCATCGGCGGGTGAA	0.662000													6	12					0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133685984	133685984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:133685984C>T	ENST00000521118.1	-	4	609	c.495G>A	c.(493-495)tgG>tgA	p.W165*	CDKL3_ENST00000435211.1_Nonsense_Mutation_p.W165*|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Nonsense_Mutation_p.W165*|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000523832.1_Nonsense_Mutation_p.W165*|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000521755.1_Intron			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	165	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTCTATACCAGCGTGTGG	0.403000													3	4					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15822263	15822263	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:15822263G>C	ENST00000307771.7	+	5	366	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	114					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					gggaagaacagcagaggaaag	0.393000			"""F, S, Mis"""		"""MDS, CLL"""								14	25					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216599	26216599	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:26216599G>A	ENST00000244601.3	-	1	273	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	91					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTCCCTGGAGGTAATGGTCG	0.577000													42	46					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7213108	7213108	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:7213108G>A	ENST00000336458.8	+	2	555	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	EIF5A_ENST00000419711.2_Missense_Mutation_p.G52S|EIF5A_ENST00000573542.1_Missense_Mutation_p.G52S|EIF5A_ENST00000336452.7_Missense_Mutation_p.G82S|EIF5A_ENST00000416016.2_Missense_Mutation_p.G52S|EIF5A_ENST00000572815.1_Missense_Mutation_p.G52S|EIF5A_ENST00000571955.1_Missense_Mutation_p.G52S|EIF5A_ENST00000576930.1_Missense_Mutation_p.G52S	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	52	DOHH-binding.				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	p.G52S(1)		endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TGGCAAGCACGGCCACGCCAA	0.537000													24	50					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39649877	39649877	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:39649877A>G	ENST00000216832.4	+	9	1031	c.964A>G	c.(964-966)Aca>Gca	p.T322A	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	322	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTTGGAGGAGACAGGTAATCA	0.453000													12	13					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387976	56387976	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:56387976C>T	ENST00000355701.3	-	20	4466	c.3596G>A	c.(3595-3597)tGt>tAt	p.C1199Y	BZRAP1_ENST00000343736.4_Missense_Mutation_p.C1199Y|BZRAP1_ENST00000268893.6_Missense_Mutation_p.C1139Y	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1199						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGGCCGGACAGGCCTCTCC	0.677000													18	22					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269391	65269391	+	RNA	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:65269391T>C	ENST00000534336.1	+	0	4159					NR_002819.2																						GGTAATTGTTTAGTTTATGAT	0.383000													13	29					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571232	86571232	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:86571232C>T	ENST00000376344.3	-	1	400	c.184G>A	c.(184-186)Gag>Aag	p.E62K	C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	62										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCGCGGCCTCGTCGGCCGCC	0.637000													11	21					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568017	142568017	+	Silent	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:142568017T>C	ENST00000392957.2	+	18	3445	c.2658T>C	c.(2656-2658)tgT>tgC	p.C886C	EPHB6_ENST00000411471.2_Silent_p.C609C|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Silent_p.C886C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	886	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)					CTCCAGGCTGTCCTCCTGGAT	0.532000													65	87					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385098	108385098	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:108385098G>A	ENST00000265843.4	-	6	1246	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.S191F|EXPH5_ENST00000428840.1_Missense_Mutation_p.S303F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S372F	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	379					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTGTCTCTAGAGGAATCTGA	0.478000													48	24					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64208906	64208906	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:64208906T>G	ENST00000409558.4	-	3	370	c.216A>C	c.(214-216)aaA>aaC	p.K72N	VPS54_ENST00000272322.4_Missense_Mutation_p.K84N	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CAGATTCTCTTTTTGCTAATC	0.388000													53	69					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18288576	18288576	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:18288576T>A	ENST00000593731.1	+	24	4873		c.e24+2		IFI30_ENST00000407280.3_Splice_Site			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TTGTACCAGGTAAGCTGGGAG	0.582000													5	8					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915418	46915418	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:46915418G>A	ENST00000307522.3	-	1	1423	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	217						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCCGGGGCCCGCCCTCGGCGC	0.716000													9	3					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	498104	498104	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:498104G>A	ENST00000399788.2	-	1	516	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R52W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	52	JmjN.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGGGCGGCCGAATTTTGCAG	0.552000			T	NUP98	AML								25	35					0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129347635	129347635	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:129347635G>A	ENST00000398023.1	+	1	23	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	1					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGTCCAAAATGATTAGGTAAA	0.353000													16	19					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112849733	112849733	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:112849733C>T	ENST00000161863.4	+	1	354	c.141C>T	c.(139-141)atC>atT	p.I47I	YTHDC2_ENST00000515883.1_Silent_p.I47I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	47	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGGTGAAGATCGCAGTCAATA	0.672000													6	9					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109309827	109309827	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:109309827G>A	ENST00000436639.2	-	9	2233	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	SESN1_ENST00000356644.7_Silent_p.I437I|SESN1_ENST00000302071.2_Silent_p.I371I	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	437					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAACAGTTTTGATATAAACTT	0.353000													13	6					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9232356	9232356	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:9232356A>C	ENST00000318602.7	-	24	3217	c.2910T>G	c.(2908-2910)taT>taG	p.Y970*	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	970					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCCACAGCCATAGGGCATCT	0.433000													8	7					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405821	106405821	+	RNA	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:106405821G>T	ENST00000390593.2	-	0	204																											CAGCACTGTTGCTAGAGACAC	0.557000													30	51					7.38237e-10	7.79853e-10	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220435265	220435265	+	Silent	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:220435265G>T	ENST00000404537.1	-	1	746	c.690C>A	c.(688-690)ccC>ccA	p.P230P	OBSL1_ENST00000603926.1_Silent_p.P230P|OBSL1_ENST00000265318.4_Silent_p.P230P|OBSL1_ENST00000491370.1_5'UTR|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373873.4_Silent_p.P230P|OBSL1_ENST00000373876.1_Silent_p.P230P|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	230					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)		GCGGGCTCTCGGGGGGCTGGT	0.751000													6	9					0.00116845	0.00118494	1	1	0
NAIF1	203245	broad.mit.edu	37	9	130828977	130828977	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:130828977A>G	ENST00000373078.4	-	1	623	c.404T>C	c.(403-405)cTg>cCg	p.L135P		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	135					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCGCCCAGCAGGTTGCAGAT	0.692000													14	51					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071228	73071228	+	RNA	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:73071228G>A	ENST00000429829.1	-	0	1360					NR_001564.2																						TTTCCTGTGTGACCGCACATG	0.547000													82	114					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586237	22586237	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:22586237A>G	ENST00000357774.5	-	2	229	c.108T>C	c.(106-108)aaT>aaC	p.N36N	ZNF98_ENST00000601553.1_Silent_p.N36N	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCCTATATAAATTCTGCTGTG	0.388000													39	25					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10909184	10909184	+	Missense_Mutation	SNP	G	G	C	rs140043676	byFrequency	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:10909184G>C	ENST00000314646.5	+	11	1522	c.1358G>C	c.(1357-1359)cGa>cCa	p.R453P	DNM2_ENST00000355667.6_Missense_Mutation_p.R453P|DNM2_ENST00000408974.4_Missense_Mutation_p.R453P|DNM2_ENST00000359692.6_Missense_Mutation_p.R453P|DNM2_ENST00000389253.4_Missense_Mutation_p.R453P|DNM2_ENST00000585892.1_Missense_Mutation_p.R453P			P50570	DYN2_HUMAN	dynamin 2	453					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCCGGTTGCGAGAGGAGACA	0.542000			"""F, N, Splice, Mis, O"""		ETP ALL								13	21					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69672726	69672726	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:69672726G>A	ENST00000212015.6	+	8	1906	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	SIRT1_ENST00000406900.1_Missense_Mutation_p.G315E|SIRT1_ENST00000403579.1_Missense_Mutation_p.G315E|SIRT1_ENST00000432464.1_Missense_Mutation_p.G323E	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	618					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						TCAGTGGCTGGAACAGTGAGA	0.413000													17	18					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669371	45669371	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:45669371C>T	ENST00000322157.4	+	11	1547	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	NPEPPS_ENST00000530173.1_Missense_Mutation_p.S433L|NPEPPS_ENST00000544660.1_Missense_Mutation_p.S357L|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	437					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GATGCTATATCATATAGCAAA	0.388000													12	26					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3230351	3230351	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:3230351C>A	ENST00000355072.5	+	58	8003	c.7858C>A	c.(7858-7860)Cac>Aac	p.H2620N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2620					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTGTCCATACACTCCGTGTG	0.647000													9	26					1.76689e-08	1.8306e-08	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133826912	133826912	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:133826912A>T	ENST00000395386.2	+	10	1260	c.961A>T	c.(961-963)Aaa>Taa	p.K321*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.K296*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	321							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTCAGAAAAAAAATGAAGC	0.343000													67	38					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170914721	170914721	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:170914721A>G	ENST00000367759.4	+	2	178	c.24A>G	c.(22-24)acA>acG	p.T8T	MROH9_ENST00000367758.3_Splice_Site_p.T8T	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ATCCAAAAACAAGTAAGGCTT	0.358000													10	35					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059146	42059146	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:42059146G>T	ENST00000219905.7	+	24	9047	c.8866G>T	c.(8866-8868)Gca>Tca	p.A2956S	MGA_ENST00000566586.1_Missense_Mutation_p.A2747S|MGA_ENST00000545763.1_Missense_Mutation_p.A2747S|MGA_ENST00000389936.4_Missense_Mutation_p.A2917S|MGA_ENST00000570161.1_Missense_Mutation_p.A2956S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2917						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)		TGGCCTCCCTGCAGAGCCCGA	0.483000													15	22					1.15088e-07	1.18102e-07	1	1	0
ZNF812	729648	broad.mit.edu	37	19	9801226	9801226	+	Missense_Mutation	SNP	G	G	A	rs147730114	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:9801226G>A	ENST00000457674.2	-	5	1471	c.953C>T	c.(952-954)aCg>aTg	p.T318M	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCAAGGCCCGTGTACTGAGT	0.438000													39	12					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670559	131670559	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:131670559T>G	ENST00000200652.3	+	7	1369	c.1195T>G	c.(1195-1197)Tat>Gat	p.Y399D	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	399					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCCCAGGCGTTATATCATAGC	0.468000													62	67					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187194325	187194325	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:187194325A>G	ENST00000264692.4	+	4	652	c.319A>G	c.(319-321)Ata>Gta	p.I107V	F11_ENST00000403665.2_Missense_Mutation_p.I107V|F11_ENST00000492972.2_Missense_Mutation_p.I107V			P03951	FA11_HUMAN	coagulation factor XI	107					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTCACACCAAATAAGCGGTAA	0.413000													14	4					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738764	64738764	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:64738764G>C	ENST00000413366.3	+	13	1436	c.1410G>C	c.(1408-1410)atG>atC	p.M470I		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	470	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATAACGTCATGTTGGATTCAG	0.448000													12	73					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350513	51350513	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:51350513G>A	ENST00000327536.5	-	3	543	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	148										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGACTTTGTAGAGCTCATCAA	0.458000													42	84					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638832	2638832	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:2638832G>C	ENST00000329276.5	+	12	2193	c.1677G>C	c.(1675-1677)aaG>aaC	p.K559N	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	559	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCAAGAAAAAGAGGAAATTCT	0.517000													3	7					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25304827	25304827	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:25304827G>A	ENST00000331161.4	-	1	258	c.39C>T	c.(37-39)ctC>ctT	p.L13L	ENKUR_ENST00000376363.1_Silent_p.L13L	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	13						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACTGGGTATGAGGTTATAAA	0.433000													24	33					0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30123662	30123662	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:30123662C>T	ENST00000406256.3	-	5	825	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	150	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CCTTTGATCTCTACGCTCATG	0.627000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	32					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399633	8399633	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:8399633G>C	ENST00000471889.1	+	8	2240	c.1855G>C	c.(1855-1857)Ggg>Cgg	p.G619R	SLC45A1_ENST00000377479.2_Missense_Mutation_p.G653R|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G619R			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	619					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGGACCGGGCTTGCCAC	0.592000													20	46					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105010436	105010436	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:105010436C>G	ENST00000507740.1	+	15	2680	c.2444C>G	c.(2443-2445)tCc>tGc	p.S815C	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Missense_Mutation_p.S801C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1076	C2 1.				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)			CTACCTCGCTCCAGATACAGT	0.348000										HNSCC(12;0.0054)			14	61					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108547868	108547868	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:108547868C>T	ENST00000526794.1	+	4	467	c.435C>T	c.(433-435)ctC>ctT	p.L145L	DDX10_ENST00000322536.3_Silent_p.L145L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	145	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGGGGTTCTCATAATATCAC	0.443000			T	NUP98	AML*								43	20					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49437043	49437043	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:49437043A>G	ENST00000221403.2	+	1	105	c.65A>G	c.(64-66)cAg>cGg	p.Q22R	DHDH_ENST00000523250.1_Missense_Mutation_p.Q22R|DHDH_ENST00000522614.1_Missense_Mutation_p.Q22R	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	22					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GCCGTGCTGCAGACGCTGCCT	0.662000													15	3					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392627	140392627	+	Missense_Mutation	SNP	C	C	T	rs142091055		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:140392627C>T	ENST00000406427.1	-	17	2164	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	PNPLA7_ENST00000277531.4_Missense_Mutation_p.V585M|PNPLA7_ENST00000371457.1_Missense_Mutation_p.V191M	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	585					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATTTGCCGCACGAAGGACGAC	0.632000													11	27					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058405	42058405	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:42058405G>T	ENST00000219905.7	+	24	8306	c.8125G>T	c.(8125-8127)Ggc>Tgc	p.G2709C	MGA_ENST00000566586.1_Missense_Mutation_p.G2500C|MGA_ENST00000545763.1_Missense_Mutation_p.G2500C|MGA_ENST00000389936.4_Missense_Mutation_p.G2670C|MGA_ENST00000570161.1_Missense_Mutation_p.G2709C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2670						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)		AAACAGAGATGGCAGAGTGAC	0.433000													17	18					4.14922e-12	4.4375e-12	1	1	0
NMRK2	27231	broad.mit.edu	37	19	3937251	3937251	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:3937251T>C	ENST00000168977.2	+	4	421	c.131T>C	c.(130-132)aTa>aCa	p.I44T	NMRK2_ENST00000599576.1_Missense_Mutation_p.I35T|NMRK2_ENST00000593949.1_Missense_Mutation_p.I49T	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		CAAGACCAAATAGCAGTTGGG	0.627000													10	5					0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17126380	17126380	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:17126380G>T	ENST00000324849.4	+	4	1005	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	VPS37A_ENST00000521829.1_Missense_Mutation_p.D86Y|VPS37A_ENST00000324815.3_Missense_Mutation_p.D111Y	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	111					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AATGCACTCAGATCTTGGAAA	0.318000													10	19					9.70103e-10	1.02228e-09	1	1	0
UBXN6	80700	broad.mit.edu	37	19	4446144	4446144	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:4446144C>T	ENST00000301281.6	-	10	1226	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E315K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	368	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGCAGGGCCTCCCGGACGAAC	0.687000													8	2					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180217528	180217528	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:180217528T>G	ENST00000263726.2	+	2	429	c.185T>G	c.(184-186)aTg>aGg	p.M62R		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	62	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GACTGCCAGATGCAGCTGGCG	0.592000													7	38					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31340143	31340143	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:31340143C>T	ENST00000542188.1	-	13	1937		c.e13-1		TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCAGTCTCTGAAAGAGAA	0.473000													31	38					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148877983	148877983	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:148877983T>G	ENST00000296051.2	+	11	2163	c.2023T>G	c.(2023-2025)Tta>Gta	p.L675V	HPS3_ENST00000460120.1_Missense_Mutation_p.L510V	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	675						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCATCGATCTTAGTGACATT	0.433000									Hermansky-Pudlak syndrome				16	35					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129157852	129157852	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:129157852A>G	ENST00000361171.3	+	6	620		c.e6-1		MVB12B_ENST00000535766.1_Splice_Site|MVB12B_ENST00000436593.3_Splice_Site|MVB12B_ENST00000545391.1_Splice_Site	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		TTTTTCCTAAAGGGAACTGAA	0.443000													53	28					0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43970484	43970484	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:43970484C>G	ENST00000336600.5	+	4	370	c.350C>G	c.(349-351)aCt>aGt	p.T117S	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Missense_Mutation_p.T97S|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	117										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			TCGCGGAGGACTCGCGGGCCG	0.751000													8	5					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255458	70255458	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:70255458C>T	ENST00000342771.4	+	19	3577	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1062W	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1086										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGACATTCACCGGAGAGACCC	0.657000													4	8					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20936611	20936611	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr18:20936611G>A	ENST00000383233.3	-	12	670	c.618C>T	c.(616-618)gtC>gtT	p.V206V	TMEM241_ENST00000450466.2_Silent_p.V85V|TMEM241_ENST00000542162.1_3'UTR	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	206						integral to membrane											GGAAGTCCAGGACGCTGAAGA	0.517000													15	17					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455431	16455431	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:16455431G>A	ENST00000395824.1	-	6	2642	c.2025C>T	c.(2023-2025)ccC>ccT	p.P675P	ZNF287_ENST00000395825.3_Silent_p.P675P			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	668					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TACATTTATAGGGTTTTTCTC	0.343000													17	28					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153248159	153248159	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:153248159C>T	ENST00000369982.4	+	2	1393	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	216						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCTCGCACGGTGGCGTCT	0.557000													20	27					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67114041	67114041	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:67114041T>G	ENST00000284425.2	-	11	1667	c.1493A>C	c.(1492-1494)aAa>aCa	p.K498T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	498	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTTTACCTTTCAATGCTTC	0.279000													39	31					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121151140	121151140	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:121151140A>G	ENST00000344651.4	+	2	348	c.308A>G	c.(307-309)gAt>gGt	p.D103G	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	103										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAATTCGAGATTTGGAGACA	0.403000													31	59					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809585	18809585	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:18809585G>A	ENST00000400664.1	+	1	2162	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	704						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGGTACGAGTGCGCCAC	0.652000													15	30					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426766	6426766	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:6426766C>T	ENST00000449001.2	+	8	1319	c.825C>T	c.(823-825)atC>atT	p.I275I	PLEKHG6_ENST00000536531.1_Silent_p.I307I|PLEKHG6_ENST00000396988.3_Silent_p.I307I|PLEKHG6_ENST00000011684.7_Silent_p.I307I	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	307	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACTTGCTTATCAAGCCCCACC	0.612000													15	16					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913502	35913502	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:35913502C>A	ENST00000339208.6	-	14	2463	c.2323G>T	c.(2323-2325)Gat>Tat	p.D775Y	SYNRG_ENST00000346661.4_Missense_Mutation_p.D775Y|SYNRG_ENST00000502449.2_Missense_Mutation_p.D697Y|SYNRG_ENST00000345615.4_Missense_Mutation_p.D697Y|SYNRG_ENST00000591288.1_Missense_Mutation_p.D614Y|SYNRG_ENST00000585472.1_Missense_Mutation_p.D696Y|SYNRG_ENST00000394378.2_Missense_Mutation_p.D697Y	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	775	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCAAAATCATCATCACTT	0.438000													29	52					3.86903e-22	4.26484e-22	1	1	0
WDR91	29062	broad.mit.edu	37	7	134882828	134882828	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:134882828A>T	ENST00000354475.4	-	7	998	c.967T>A	c.(967-969)Tcc>Acc	p.S323T	WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Missense_Mutation_p.S323T|WDR91_ENST00000423565.1_Missense_Mutation_p.S288T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	323										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GACCAACCGGACTCCCCAGTG	0.617000													21	26					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12443178	12443178	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:12443178C>T	ENST00000358136.3	+	58	11464	c.11334C>T	c.(11332-11334)atC>atT	p.I3778I	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.I3753I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3777					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTATCCATCAGAGTCATCC	0.433000													16	31					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43295936	43295936	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:43295936G>A	ENST00000325110.6	-	6	1029	c.823C>T	c.(823-825)Cta>Tta	p.L275L	HMGCS1_ENST00000433297.2_Silent_p.L275L	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	275					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATCCGAGCTAGAGATTTCTGA	0.373000													34	37					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169623	42169623	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:42169623C>T	ENST00000373135.3	+	19	2306	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T793I|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T793I|L3MBTL1_ENST00000373134.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTAGTCTGGACTGTGGCCCAG	0.557000													47	20					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274363	42274363	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:42274363C>T	ENST00000389384.4	-	4	696	c.388G>A	c.(388-390)Gag>Aag	p.E130K	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.E130K|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	130					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTCACTCTCAGACTTATTC	0.522000													41	58					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043418	73043418	+	RNA	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:73043418A>G	ENST00000604411.1	+	0	31379				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTACTCCTTTACTTCTGTAGG	0.368000													16	27					0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206576	21206576	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:21206576G>C	ENST00000357374.2	-	1	566	c.521C>G	c.(520-522)tCc>tGc	p.S174C		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.S174C(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AAACGAGAGGGATCTCATGAT	0.398000													107	191					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015371	9015371	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:9015371G>T	ENST00000397910.4	-	30	38420	c.38217C>A	c.(38215-38217)ttC>ttA	p.F12739L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12741	SEA 5.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTTCTTGAACATGGGAC	0.542000													38	15					1.59361e-14	1.71711e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152278817	152278817	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:152278817C>T	ENST00000368799.1	-	3	8580	c.8545G>A	c.(8545-8547)Gac>Aac	p.D2849N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCCGTCTCCTGATTGT	0.567000									Ichthyosis				11	875					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80707342	80707342	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:80707342T>G	ENST00000458043.2	+	30	3516	c.3510T>G	c.(3508-3510)agT>agG	p.S1170R	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1170R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTGCACTAGTATAGCTGCAT	0.368000													22	5					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84222163	84222163	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:84222163T>A	ENST00000405413.2	-	12	1558	c.1422A>T	c.(1420-1422)caA>caT	p.Q474H	HPSE_ENST00000512196.1_Missense_Mutation_p.Q400H|HPSE_ENST00000513463.1_Missense_Mutation_p.Q416H|HPSE_ENST00000311412.5_Missense_Mutation_p.Q474H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	474					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ATTTATCCACTTGCTTGTTAG	0.353000													27	34					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901303	74901303	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:74901303A>G	ENST00000569840.2	+	7	1317	c.743A>G	c.(742-744)aAg>aGg	p.K248R	MGAT5B_ENST00000301618.4_Missense_Mutation_p.K248R|MGAT5B_ENST00000428789.2_Missense_Mutation_p.K259R|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	248						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCAGCGGGAAGGAGTCCCTG	0.647000													13	16					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916622	13916622	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:13916622C>A	ENST00000285018.4	-	2	424	c.120G>T	c.(118-120)aaG>aaT	p.K40N	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	40					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGCCTGGGATCTTGTTACAGA	0.602000													34	8					1.26612e-14	1.3711e-14	1	1	0
HEXA	3073	broad.mit.edu	37	15	72637878	72637878	+	Missense_Mutation	SNP	C	C	G	rs145012038	byFrequency	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:72637878C>G	ENST00000268097.5	-	13	1938	c.1435G>C	c.(1435-1437)Gct>Cct	p.A479P	HEXA_ENST00000457859.2_3'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.A490P|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.A479P|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	479					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCGGCAACAGCCCCTGCTCTG	0.537000													20	12					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190585420	190585420	+	Silent	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:190585420C>A	ENST00000520309.1	+	12	2630	c.2542C>A	c.(2542-2544)Cgg>Agg	p.R848R	ANKAR_ENST00000438402.2_Silent_p.R848R|ANKAR_ENST00000313581.4_Silent_p.R848R|ANKAR_ENST00000431575.2_Silent_p.R777R|ANKAR_ENST00000281412.6_Silent_p.R612R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	848						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAACTGTATACGGGTATTGTG	0.323000													46	77					8.48111e-28	9.39681e-28	1	1	0
MDGA1	266727	broad.mit.edu	37	6	37631796	37631796	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:37631796C>G	ENST00000297153.7	-	2	1332	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	MDGA1_ENST00000434837.3_Missense_Mutation_p.E52Q|MDGA1_ENST00000505425.1_Missense_Mutation_p.E52Q			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	52	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTCCCCCTCCCGGATGGTG	0.632000													13	52					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101049200	101049200	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:101049200G>C	ENST00000394095.2	-	20	2782	c.2729C>G	c.(2728-2730)tCt>tGt	p.S910C	SENP7_ENST00000348610.3_Missense_Mutation_p.S877C|SENP7_ENST00000358203.3_Missense_Mutation_p.S746C|SENP7_ENST00000394085.3_Missense_Mutation_p.S98C|SENP7_ENST00000394091.1_Missense_Mutation_p.S746C|SENP7_ENST00000394094.2_Missense_Mutation_p.S845C|SENP7_ENST00000314261.7_Missense_Mutation_p.S844C	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCACTCAAAGACAGTGTCGA	0.328000													14	18					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89016712	89016712	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:89016712G>A	ENST00000237612.3	-	14	2242	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	ABCG2_ENST00000515655.1_Missense_Mutation_p.H563Y	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	566	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTGAAGCCATGACAGCCAAGA	0.413000													29	3					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63449152	63449152	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:63449152C>G	ENST00000377819.5	+	1	198	c.44C>G	c.(43-45)tCg>tGg	p.S15W	RTN3_ENST00000356000.3_Missense_Mutation_p.S15W|RTN3_ENST00000341307.2_Missense_Mutation_p.S15W|RTN3_ENST00000339997.4_Missense_Mutation_p.S15W|RTN3_ENST00000354497.4_Missense_Mutation_p.S15W|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000540798.1_Missense_Mutation_p.S15W|RTN3_ENST00000537981.1_Missense_Mutation_p.S15W	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	15					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						TCCATCTCCTCGTCGTCCTTC	0.711000													5	52					0	0	1	0	0
SCAND1	51282	broad.mit.edu	37	20	34542206	34542206	+	Translation_Start_Site	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:34542206T>A	ENST00000373991.3	-	3	1071	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SCAND1_ENST00000305978.2_Start_Codon_SNP_p.M1L			P57086	SCND1_HUMAN	SCAN domain containing 1	1					viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					GTAGCCGCCATAACTCCAGCT	0.652000													20	21					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100055426	100055426	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:100055426T>C	ENST00000258428.3	-	6	1078	c.850A>G	c.(850-852)Aga>Gga	p.R284G	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R284G	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	284					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGTGTTTCTGGTGCTTTGC	0.473000								Direct reversal of damage					15	41					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38266297	38266297	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:38266297C>T	ENST00000412331.2	+	8	1276	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000381683.6_Missense_Mutation_p.H184Y|EIF3L_ENST00000406934.1_Missense_Mutation_p.H134Y	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	232						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAATGTCCTTCATTCCCTGGT	0.498000													15	6					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14336654	14336654	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:14336654A>G	ENST00000344204.4	+	11	1888	c.1864A>G	c.(1864-1866)Acc>Gcc	p.T622A	TRIO_ENST00000509967.2_Missense_Mutation_p.T573A|TRIO_ENST00000537187.1_Missense_Mutation_p.T622A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	622					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAACACATACACCAATGCGGA	0.488000													19	37					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284156	3284156	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:3284156T>A	ENST00000436008.2	-	10	2119	c.1657A>T	c.(1657-1659)Atg>Ttg	p.M553L	SLC22A23_ENST00000380302.4_Missense_Mutation_p.M264L|SLC22A23_ENST00000406686.3_Missense_Mutation_p.M545L|SLC22A23_ENST00000490273.1_Missense_Mutation_p.M264L|PSMG4_ENST00000451246.2_Intron			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	545					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GAGGCAAACATGCCCACGATG	0.587000													14	16					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74617440	74617440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:74617440G>A	ENST00000340360.6	-	10	1154	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.Q42*|XRRA1_ENST00000527087.1_Nonsense_Mutation_p.Q275*	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	275					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TCATAGAGCTGAACTTGCTGT	0.438000													37	17					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48078434	48078434	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:48078434T>C	ENST00000264316.4	-	12	1308	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	TXK_ENST00000507351.1_Missense_Mutation_p.D63G	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	408	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CATTCCAAAGTCTGAAATTTT	0.308000													17	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:7577144A>G	ENST00000420246.2	-	8	926	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000455263.2_Missense_Mutation_p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522000		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)			5	12					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41689047	41689047	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:41689047T>C	ENST00000260361.4	-	2	592	c.211A>G	c.(211-213)Ata>Gta	p.I71V		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	71					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GAAGAAGTTATATCCAAAGCA	0.413000													66	124					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33902844	33902844	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:33902844G>T	ENST00000225873.4	-	3	1644	c.1037C>A	c.(1036-1038)aCa>aAa	p.T346K		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	346					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGTACTTCTGTTGGATAACC	0.423000													27	38					2.12542e-12	2.28442e-12	1	1	0
CAMK1	8536	broad.mit.edu	37	3	9799270	9799270	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:9799270C>T	ENST00000256460.3	-	12	1243	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	356					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCCGGCTCCACGCAGCAGTCT	0.687000													24	3					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255769	50255769	+	RNA	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:50255769C>T	ENST00000420502.1	+	0	1156							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)	CATGTACTTCCTGGCTGCCCT	0.602000													32	8					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27680731	27680731	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:27680731C>T	ENST00000260570.3	-	28	3191	c.3088G>A	c.(3088-3090)Gat>Aat	p.D1030N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1030					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGGTGTGTATCACTGAGGAGA	0.517000													15	21					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057057	53057057	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:53057057C>T	ENST00000359798.4	+	5	1068	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAAAGTCCTTCAGTTACAAGT	0.418000													64	26					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851019	49851019	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:49851019G>A	ENST00000376088.3	+	11	1690	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	CLCN5_ENST00000307367.2_Missense_Mutation_p.R280H|CLCN5_ENST00000376108.3_Missense_Mutation_p.R280H|CLCN5_ENST00000376091.3_Missense_Mutation_p.R350H	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	280					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ACATTGTGGCGTTCATTCTTT	0.443000													14	15					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153583035	153583035	+	Silent	SNP	A	A	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:153583035A>C	ENST00000422373.1	-	31	5486	c.5238T>G	c.(5236-5238)tcT>tcG	p.S1746S	FLNA_ENST00000360319.4_Silent_p.S1746S|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000369850.3_Silent_p.S1754S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1754	Hinge 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCAGCTGCTGAGACCGTAGAG	0.667000													6	6					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096757	52096757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:52096757C>T	ENST00000274311.2	+	2	1514	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	177					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CAATTGCTCTCAGCATGACCG	0.557000													17	39					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													4	13					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128414714	128414714	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:128414714G>A	ENST00000249389.2	-	3	524	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	175					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CCTCAGGGATGAACCTGCAAA	0.542000													13	14					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166706	64166706	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:64166706G>T	ENST00000395391.1	+	4	1399	c.24G>T	c.(22-24)atG>atT	p.M8I	ZNF107_ENST00000423627.1_Missense_Mutation_p.M8I|ZNF107_ENST00000344930.3_Missense_Mutation_p.M8I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	8					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)				TTTCAGTAATGTCTTTTCATT	0.303000													20	29					8.34094e-07	8.53906e-07	1	1	0
CATSPER2	117155	broad.mit.edu	37	15	43931840	43931840	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:43931840C>T	ENST00000396879.1	-	7	830		c.e7+1		CATSPER2_ENST00000321596.5_Splice_Site|CATSPER2_ENST00000354127.4_Splice_Site|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Splice_Site|CATSPER2_ENST00000355438.2_Splice_Site	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTCAAATCACCTTGAGGGCC	0.483000													5	165					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849229	52849229	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:52849229A>T	ENST00000371568.3	-	13	2094	c.1876T>A	c.(1876-1878)Tgg>Agg	p.W626R	ORC1_ENST00000371566.1_Missense_Mutation_p.W626R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	626	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGTGAGTCCACAGAAGGTCG	0.502000													12	21					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862522	73862522	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:73862522C>T	ENST00000351217.6	-	5	1653	c.735G>A	c.(733-735)gaG>gaA	p.E245E	NPTN_ENST00000542234.1_Silent_p.E156E|NPTN_ENST00000563691.1_Silent_p.E361E|NPTN_ENST00000545878.1_Silent_p.E361E|NPTN_ENST00000345330.4_Silent_p.E361E|NPTN_ENST00000562924.1_Silent_p.E245E	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	361	Ig-like 3.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCTTCCTCTTCTCATACACAA	0.512000													31	48					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941476	232941476	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:232941476C>A	ENST00000418460.1	+	1	834	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CGCGGCAAGTCCTGCCTCTTC	0.721000													3	9					1	1	1	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591017	56591017	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:56591017T>G	ENST00000338222.5	+	1	992	c.711T>G	c.(709-711)atT>atG	p.I237M		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	237						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CACTCGAAATTGCCAGGAATC	0.453000													13	21					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060873	111060873	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:111060873G>T	ENST00000369771.2	-	1	924	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	179						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CATCCTCCCGGAACTGGTCCA	0.498000													20	38					4.35082e-09	4.55146e-09	1	1	0
GAB2	9846	broad.mit.edu	37	11	77934533	77934533	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:77934533C>T	ENST00000361507.4	-	6	1577	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	GAB2_ENST00000340149.2_Missense_Mutation_p.V460M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	498					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCTCGGTGCACAGGAAGGGTT	0.552000													80	51					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27517274	27517274	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:27517274G>C	ENST00000356183.4	-	10	1731	c.1716C>G	c.(1714-1716)gaC>gaG	p.D572E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D572E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	572						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACTGTTGCTGTCCGCACAGT	0.562000													25	47					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318046	3318046	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:3318046G>A	ENST00000336727.3	+	2	1053	c.149G>A	c.(148-150)gGg>gAg	p.G50E	RGS12_ENST00000543385.1_Missense_Mutation_p.G50E|RGS12_ENST00000344733.5_Missense_Mutation_p.G50E|RGS12_ENST00000382788.3_Missense_Mutation_p.G50E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	50	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCATGAGAGGGAGCCCTGCG	0.567000													13	18					0	0	1	0	0
SNHG12	85028	broad.mit.edu	37	1	28907665	28907665	+	RNA	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:28907665C>T	ENST00000488745.1	-	0	970				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA																							AGTCAGTCATCCTGTAGGCCC	0.522000													5	7					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260302	35260302	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:35260302G>T	ENST00000342280.4	+	2	576	c.488G>T	c.(487-489)aGt>aTt	p.S163I		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	163					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTCTGCAAGAGTGTGCTAGAG	0.622000													10	18					0.00621372	0.00625727	1	1	0
TRIL	9865	broad.mit.edu	37	7	28997583	28997583	+	RNA	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:28997583G>A	ENST00000322982.3	-	0	351				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGCGCTCCGGGCACACGGGCT	0.736000													10	9					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3733848	3733848	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:3733848G>C	ENST00000324932.7	-	20	3108	c.2688C>G	c.(2686-2688)agC>agG	p.S896R	NUP98_ENST00000359171.4_Missense_Mutation_p.S896R|NUP98_ENST00000355260.3_Missense_Mutation_p.S896R|NUP98_ENST00000397007.4_Missense_Mutation_p.S913R|NUP98_ENST00000397004.4_Missense_Mutation_p.S896R	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	913					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCGTAGTCTGGCTTGCAGGAG	0.468000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								27	14					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669976	44669976	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:44669976T>G	ENST00000243964.3	+	8	961	c.863T>G	c.(862-864)cTc>cGc	p.L288R	SLC12A5_ENST00000454036.2_Missense_Mutation_p.L311R	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	311					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)	AGGATCTGCCTCCTGGGTAAC	0.567000													37	18					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37777701	37777701	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:37777701A>G	ENST00000297994.3	+	9	1013	c.948A>G	c.(946-948)gaA>gaG	p.E316E	TRMT10B_ENST00000537911.1_Silent_p.E256E|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Silent_p.E229E|TRMT10B_ENST00000377754.2_Silent_p.E221E	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		ACTCAGTGGAATGATGGGCCT	0.488000													14	23					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25976470	25976470	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:25976470C>T	ENST00000435504.4	-	11	1368	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ASXL2_ENST00000404843.1_Missense_Mutation_p.E99K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E99K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E331K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCAATCTCTTGTCGAATT	0.363000													33	58					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196529910	196529910	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:196529910G>A	ENST00000327134.3	+	4	633	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	104	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CAGTGGGCTCGATTACTACAG	0.383000													10	24					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484955	150484955	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:150484955A>G	ENST00000369047.4	+	8	1336	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S	ECM1_ENST00000369049.4_Missense_Mutation_p.N431S|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.N279S	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	404	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTTACCCCAACTATGACCGG	0.572000													25	38					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531691	140531691	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:140531691A>G	ENST00000231136.1	+	1	1853	c.1853A>G	c.(1852-1854)cAc>cGc	p.H618R	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H482R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGGGCGCACAATGGCGAG	0.677000													17	37					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63185417	63185417	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:63185417T>C	ENST00000449996.3	+	10	731	c.659T>C	c.(658-660)gTt>gCt	p.V220A	RGS9_ENST00000262406.9_Missense_Mutation_p.V223A|RGS9_ENST00000443584.3_Missense_Mutation_p.V220A	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	223	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAAACAGTCGTTGCTGTCAAA	0.353000													61	130					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153844	5153844	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:5153844A>G	ENST00000307388.1	-	1	28	c.29T>C	c.(28-30)aTg>aCg	p.M10T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	10					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)		CGCAGAGGGCATGAAGACTGA	0.418000													12	4					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11029597	11029597	+	Splice_Site	SNP	C	C	A	rs138714104		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:11029597C>A	ENST00000415664.2	-	1	122		c.e1+1		BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTATGTACCACTTTGATG	0.413000													9	43					1.76689e-08	1.8306e-08	1	1	0
CCNF	899	broad.mit.edu	37	16	2498903	2498903	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:2498903C>T	ENST00000397066.4	+	11	1230	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	381	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTATGGCTCACGGACAACACT	0.557000													26	10					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896812	35896812	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:35896812G>A	ENST00000321660.1	+	2	529	c.371G>A	c.(370-372)tGc>tAc	p.C124Y	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	124					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAGAGACGCTGCCCGCGGCCA	0.736000													4	4					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2100464	2100464	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:2100464G>A	ENST00000219476.3	+	3	832	c.202G>A	c.(202-204)Gca>Aca	p.A68T	TSC2_ENST00000382538.6_Missense_Mutation_p.A19T|TSC2_ENST00000350773.4_Missense_Mutation_p.A68T|TSC2_ENST00000568454.1_Missense_Mutation_p.A79T|TSC2_ENST00000439673.2_Missense_Mutation_p.A68T|TSC2_ENST00000353929.4_Missense_Mutation_p.A68T|TSC2_ENST00000401874.2_Missense_Mutation_p.A68T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	68	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTGTGAAGTCGCAAAAACCAA	0.443000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				3	22					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340246	116340246	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:116340246G>A	ENST00000397752.3	+	2	1308	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	MET_ENST00000318493.6_Missense_Mutation_p.V370I|MET_ENST00000436117.2_Missense_Mutation_p.V370I	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	370	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)			TATCAAATATGTCAACGACTT	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				19	56					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035008	201035008	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:201035008G>A	ENST00000362061.3	-	22	3037	c.2811C>T	c.(2809-2811)ctC>ctT	p.L937L	CACNA1S_ENST00000367338.3_Silent_p.L937L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	937					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAACTGTAGGAGGGTAGTGA	0.647000													7	18					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846088	123846088	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:123846088G>A	ENST00000369005.1	+	4	4413	c.4073G>A	c.(4072-4074)aGt>aAt	p.S1358N	TACC2_ENST00000515603.1_Missense_Mutation_p.S1358N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1358N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S1358N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1358N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1358						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAAGGCCAGTGGGGAGGGC	0.617000													18	13					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91713979	91713979	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:91713979A>C	ENST00000356239.3	+	34	8905	c.8672A>C	c.(8671-8673)cAt>cCt	p.H2891P	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000359028.2_Intron	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2903					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)			GAGCTAGCACATTCTGATGCT	0.284000			T	BRAF	papillary thyroid								38	50					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831451	89831451	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:89831451C>T	ENST00000389301.3	-	28	2655	c.2625G>A	c.(2623-2625)ttG>ttA	p.L875L	FANCA_ENST00000568369.1_Silent_p.L875L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	875					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGAGAACAATCTGAACA	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	12					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41613836	41613836	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:41613836C>T	ENST00000319349.5	-	5	512	c.214G>A	c.(214-216)Gac>Aac	p.D72N	ETV4_ENST00000545954.1_Missense_Mutation_p.D33N|ETV4_ENST00000545089.1_Missense_Mutation_p.D72N|ETV4_ENST00000591713.1_Missense_Mutation_p.D72N|ETV4_ENST00000393664.2_Missense_Mutation_p.D72N|ETV4_ENST00000538265.1_Missense_Mutation_p.D33N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	72	Asp/Glu-rich (acidic).				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCATCACTGTCTGGTACCTGA	0.537000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								26	38					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101478222	101478222	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:101478222A>G	ENST00000370483.5	-	7	918	c.868T>C	c.(868-870)Tat>Cat	p.Y290H	COX15_ENST00000016171.5_Missense_Mutation_p.Y290H|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	290					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AAGGAGTTATAAACAAGCCCA	0.448000													24	42					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389409	62389409	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:62389409T>G	ENST00000531383.1	-	1	217	c.11A>C	c.(10-12)aAg>aCg	p.K4T	B3GAT3_ENST00000265471.5_Missense_Mutation_p.K4T|B3GAT3_ENST00000534026.1_Missense_Mutation_p.K4T			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	4					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GTTCTTCAGCTTCAGCTTCAT	0.731000													5	24					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99661304	99661304	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:99661304G>A	ENST00000370597.3	-	8	1444	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CRTAC1_ENST00000370591.2_Silent_p.F363F|CRTAC1_ENST00000298819.4_Silent_p.F363F	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	363						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAATGTTGTTGAAGAAGATCT	0.582000													10	23					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617976	111617976	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:111617976C>T	ENST00000374667.3	-	1	1263	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	79						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGTTTGCCCACGGTGGAGGAG	0.642000													63	44					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974182	128974182	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:128974182G>A	ENST00000522781.1	-	4	1033	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	FAM196A_ENST00000424811.2_Missense_Mutation_p.R160W|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	160										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCACATGGCCGGGCCTCCTCC	0.552000													20	29					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803896	50803896	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:50803896T>G	ENST00000263046.4	+	5	917	c.751T>G	c.(751-753)Tca>Gca	p.S251A	TFAP2B_ENST00000393655.3_Missense_Mutation_p.S242A			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	242					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCTGCTCAGTTCAACTTCGAA	0.527000													28	45					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333829	11333829	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:11333829C>T	ENST00000376810.5	+	1	567	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	UBIAD1_ENST00000376804.2_Missense_Mutation_p.P81S	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	81					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTCCTGGATCCCAGGCTCTT	0.597000													30	38					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484924	43484924	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:43484924G>A	ENST00000395891.2	+	11	2758	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	HECW1_ENST00000453890.1_Missense_Mutation_p.R718H	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						AGCCACACGCGCTTCTCCTCC	0.627000													16	36					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83369072	83369072	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:83369072G>A	ENST00000273920.3	+	2	352		c.e2-1		ENOPH1_ENST00000509635.1_Splice_Site	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1						L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CTTTTATCCAGGACATTTTAT	0.348000													9	14					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122745840	122745840	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:122745840G>A	ENST00000267199.4	-	4	563	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L151F|VPS33A_ENST00000451053.2_Missense_Mutation_p.L151F|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	151					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ATGGATAAGAGATCCCCATCG	0.443000													23	34					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84268900	84268900	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:84268900G>A	ENST00000376499.3	-	5	1350	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Silent_p.L40L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	96	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCCTGAGACAGAAATGGGATG	0.333000													22	21					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74062178	74062178	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:74062178C>G	ENST00000326303.4	+	3	1340	c.1086C>G	c.(1084-1086)atC>atG	p.I362M		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	362					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGCATTACATCGAGCCTCCTT	0.522000													17	33					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621633	56621633	+	Translation_Start_Site	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:56621633C>A	ENST00000321691.3	-	0	96				RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47											NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATATTTACCCTGTTTTAAAG	0.428000													15	22					3.27435e-08	3.38428e-08	1	1	0
TRIM39	56658	broad.mit.edu	37	6	30309573	30309573	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:30309573G>A	ENST00000376659.5	+	8	1602	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	TRIM39_ENST00000396548.1_Missense_Mutation_p.R335K|TRIM39_ENST00000396547.1_Missense_Mutation_p.R365K|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R247K|TRIM39_ENST00000540416.1_Missense_Mutation_p.R335K|TRIM39_ENST00000396551.3_Missense_Mutation_p.R335K|TRIM39_ENST00000376656.4_Missense_Mutation_p.R365K	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GTGGAGACAAGACTCCGGGAT	0.572000													9	16					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109254105	109254105	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:109254105T>G	ENST00000220849.5	-	2	190	c.128A>C	c.(127-129)gAc>gCc	p.D43A	EIF3E_ENST00000519030.1_Intron	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	43	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		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)			ACTAAGAAGGTCCAATTTACC	0.289000													13	54					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747018	30747018	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:30747018C>T	ENST00000263056.1	+	7	1575	c.879C>T	c.(877-879)taC>taT	p.Y293Y	MAP3K8_ENST00000542547.1_Silent_p.Y293Y|MAP3K8_ENST00000375321.1_Silent_p.Y293Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	293	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				TTCAGATTTACATGAGCCCAG	0.512000													8	11					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349709	31349709	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:31349709G>A	ENST00000336798.7	-	1	1878	c.386C>T	c.(385-387)aCc>aTc	p.T129I	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Missense_Mutation_p.T187I			O75056	SDC3_HUMAN	syndecan 3	187	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGGGGGTGGCGGTGGC	0.637000													15	11					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233870	38233870	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:38233870A>T	ENST00000558158.1	+	8	598		c.e8-1		TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TTGATTTCCTAGGTAATGAAG	0.373000													15	32					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738893	24738893	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:24738893G>A	ENST00000399409.3	-	5	918	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000216840.6_Silent_p.C145C|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	145					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GATAGTCCCAGCAGTGAACTG	0.582000													16	16					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037189	148037189	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:148037189A>G	ENST00000370460.2	+	11	2093	c.1614A>G	c.(1612-1614)acA>acG	p.T538T	AFF2_ENST00000342251.3_Silent_p.T505T|AFF2_ENST00000370457.5_Silent_p.T505T|AFF2_ENST00000286437.5_Silent_p.T179T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	538					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAAGTGACATCCCAGAACA	0.438000													75	138					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76122677	76122677	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:76122677G>C	ENST00000590602.1	-	3	268	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.L37V|TMC6_ENST00000306591.7_Missense_Mutation_p.L37V|TMC6_ENST00000392467.3_Missense_Mutation_p.L37V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	37						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCCTGGATGAGCTGCTGGAAG	0.662000													25	21					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054729	177054729	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:177054729G>A	ENST00000331462.4	+	2	1069	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		ACCGCAGGATGAAACAGAAGA	0.507000													51	52					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65429329	65429329	+	Silent	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:65429329G>C	ENST00000304895.4	-	11	1900	c.1770C>G	c.(1768-1770)gcC>gcG	p.A590A	GUSB_ENST00000345660.6_Silent_p.A539A|GUSB_ENST00000421103.1_Silent_p.A444A	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	590					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCATGAAATCGGCAAAATTCC	0.438000													28	64					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76698298	76698298	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:76698298C>T	ENST00000589297.1	-	5	777	c.85G>A	c.(85-87)Gac>Aac	p.D29N	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.D29N|CYTH1_ENST00000361101.4_Missense_Mutation_p.D88N|CYTH1_ENST00000591455.1_Missense_Mutation_p.D88N|CYTH1_ENST00000446868.3_Missense_Mutation_p.D88N			Q15438	CYH1_HUMAN	cytohesin 1	88					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCAGGAGGTCGTTCTCTATT	0.473000													27	73					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128758636	128758636	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:128758636C>T	ENST00000436022.2	+	8	1742	c.431C>T	c.(430-432)tCg>tTg	p.S144L	EFCC1_ENST00000480450.1_Missense_Mutation_p.S581L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		AGACAGCCCTCGGCACCAGCC	0.667000													11	29					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071644	132071644	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:132071644G>A	ENST00000336375.5	+	9	1035	c.945G>A	c.(943-945)ttG>ttA	p.L315L	ACPP_ENST00000475741.1_Silent_p.L282L|ACPP_ENST00000351273.7_Silent_p.L315L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	315						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTTGCCACTTGACGGAATTGT	0.418000													17	30					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759560	133759560	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:133759560C>G	ENST00000318560.5	+	11	2264	c.1883C>G	c.(1882-1884)cCg>cGg	p.P628R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	628					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GACGGCCAGCCGGAGCGCAGA	0.607000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								25	62					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	617832	617832	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:617832A>G	ENST00000230449.4	-	6	675	c.540T>C	c.(538-540)ttT>ttC	p.F180F	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	180					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGAGCTGCTCAAAACTGAAAT	0.403000													35	29					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27293090	27293090	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:27293090G>T	ENST00000360131.4	+	15	2779	c.2620G>T	c.(2620-2622)Gtc>Ttc	p.V874F		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	874					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTTGTTTTGTCCCTAAATC	0.502000													31	46					2.46105e-21	2.7059e-21	1	1	0
HLCS	3141	broad.mit.edu	37	21	38129053	38129053	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:38129053C>T	ENST00000399120.1	-	11	3029	c.1799G>A	c.(1798-1800)tGt>tAt	p.C600Y	HLCS_ENST00000336648.4_Missense_Mutation_p.C600Y	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	600					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ATTAAATCCACAGCCTGGACA	0.433000													30	35					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382168	109382168	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:109382168G>A	ENST00000283195.6	+	20	5299	c.5173G>A	c.(5173-5175)Gaa>Aaa	p.E1725K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1725					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						CACTAAGAAGGAAGGACAGTG	0.423000													35	73					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71176060	71176060	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:71176060A>G	ENST00000373306.4	-	1	563	c.20T>C	c.(19-21)gTg>gCg	p.V7A		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	7					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GGCTTCAGTCACAATGTCACA	0.567000													18	31					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38072055	38072055	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:38072055G>A	ENST00000290399.6	+	1	622	c.9G>A	c.(7-9)gaG>gaA	p.E3E	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000430056.3_Silent_p.E3E|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	3					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CGATGAAGGAGAAGTCCAAGA	0.667000													6	8					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65321242	65321242	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:65321242G>A	ENST00000342505.4	-	11	1846	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	533	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GATGTTATCCGTGCGCAGGAT	0.587000			Mis		ALL								9	9					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51323489	51323489	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr19:51323489G>A	ENST00000448701.2	-	4	1435	c.111C>T	c.(109-111)gtC>gtT	p.V37V	KLK1_ENST00000301420.2_Silent_p.V139V			P06870	KLK1_HUMAN	kallikrein 1	139	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAACTCCACGACCTTCACAG	0.592000													11	12					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11145496	11145496	+	Missense_Mutation	SNP	C	C	T	rs74163622		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:11145496C>T	ENST00000409790.1	+	18	2223	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R647W|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	665								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAGACCCGGCGGGTGAGTGA	0.602000													11	29					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439443	150439443	+	Silent	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:150439443A>G	ENST00000358647.3	+	3	583	c.216A>G	c.(214-216)acA>acG	p.T72T	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAACAGGAACATGGAACGGGA	0.567000													17	23					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81624890	81624890	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:81624890C>T	ENST00000548058.1	+	12	2479	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	ACSS3_ENST00000261206.3_Silent_p.F522F|ACSS3_ENST00000548324.1_Silent_p.F205F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	523						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGGAAGCATTCAAGCATTTAT	0.299000													17	5					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134331968	134331968	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:134331968G>A	ENST00000282611.6	+	3	344	c.258G>A	c.(256-258)tcG>tcA	p.S86S		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	86					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTAGTTCTCGGAGATCTTCT	0.552000													31	43					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100135203	100135203	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:100135203C>T	ENST00000357223.2	+	8	1830	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	HHIPL1_ENST00000330710.5_Intron	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN	HHIP-like 1	0					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGGCTATGTCCCAGCTCCTTC	0.587000													19	22					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260649	151260649	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:151260649C>T	ENST00000368879.2	+	2	1980	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	628					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)			CTCTGGACCTCTGGCCTTGCC	0.622000													22	15					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739863	205739863	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:205739863C>T	ENST00000367139.3	-	5	801	c.498G>A	c.(496-498)atG>atA	p.M166I	RAB7L1_ENST00000414729.1_Missense_Mutation_p.M166I|RAB7L1_ENST00000437324.2_Missense_Mutation_p.M94I|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.M142I|RAB7L1_ENST00000235932.4_Missense_Mutation_p.M166I	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	166					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CTACTTACCTCATAGCCTCAT	0.458000													21	6					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204354473	204354473	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:204354473C>T	ENST00000319170.5	-	4	865	c.566G>A	c.(565-567)aGa>aAa	p.R189K	RAPH1_ENST00000439222.1_Missense_Mutation_p.R189K|RAPH1_ENST00000374493.3_Missense_Mutation_p.R189K|RAPH1_ENST00000419464.1_Missense_Mutation_p.R189K|RAPH1_ENST00000457812.1_Missense_Mutation_p.R189K|RAPH1_ENST00000308091.4_Missense_Mutation_p.R189K|RAPH1_ENST00000423104.1_Missense_Mutation_p.R189K|RAPH1_ENST00000418114.1_Missense_Mutation_p.R189K|RAPH1_ENST00000453034.1_Missense_Mutation_p.R189K|RAPH1_ENST00000374489.2_Missense_Mutation_p.R189K|RAPH1_ENST00000374488.2_Missense_Mutation_p.R189K	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	189					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGACGCGGTTCTTCTGTGCTG	0.473000													29	36					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	27					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960659	240960659	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:240960659G>A	ENST00000252711.2	-	3	515	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	NDUFA10_ENST00000404554.1_Missense_Mutation_p.R139C|NDUFA10_ENST00000307300.4_Missense_Mutation_p.R139C|NDUFA10_ENST00000407129.3_Missense_Mutation_p.R139C	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	139					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TGCAGCAGGCGACTGCTGTAC	0.468000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	13					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957719	35957719	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:35957719G>A	ENST00000341959.2	-	1	432	c.377C>T	c.(376-378)gCc>gTc	p.A126V		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTTGCAGATGGCCACATAGCG	0.557000													19	34					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92690341	92690341	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:92690341G>A	ENST00000318445.6	+	8	1854	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S547N|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	547					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGTATCTGCAGCCTGATCGGT	0.577000													11	28					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219647116	219647116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:219647116C>T	ENST00000258415.4	+	1	638	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	71					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			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)	CTTCTTCTTTCAGCTGTTCGT	0.637000													11	24					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526477	54526477	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:54526477G>A	ENST00000566473.2	+	10	1146	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ANKFN1_ENST00000318698.2_Silent_p.K382K			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	382										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCAGACACAAGGGACAGAGTG	0.468000													16	25					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98336510	98336510	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:98336510T>C	ENST00000371142.4	-	2	395	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	60						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAGTGAAAAGTACTTATATGT	0.373000													25	42					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27121304	27121304	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:27121304A>G	ENST00000374145.1	+	3	1461	c.779A>G	c.(778-780)tAc>tGc	p.Y260C	PIGV_ENST00000449950.2_Missense_Mutation_p.Y32C|PIGV_ENST00000078527.4_Missense_Mutation_p.Y260C	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	260					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TATTATGCCTACACCCAATTC	0.517000													45	60					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48760642	48760642	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:48760642A>G	ENST00000316623.5	-	37	5004	c.4549T>C	c.(4549-4551)Ttt>Ctt	p.F1517L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1517	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCAGTTCAAAATCAGGTGGG	0.433000													19	23					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618616	37618616	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:37618616G>A	ENST00000447079.4	+	1	325	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDK12_ENST00000430627.2_Missense_Mutation_p.E98K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	98					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						GGAGAACGACGAACGTCGTGG	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			11	30					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000													16	36					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10404834	10404834	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:10404834G>T	ENST00000379613.3	-	4	933	c.677C>A	c.(676-678)aCc>aAc	p.T226N	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.T218N|TFAP2A_ENST00000319516.4_Missense_Mutation_p.T220N|TFAP2A_ENST00000482890.1_Missense_Mutation_p.T224N|TFAP2A_ENST00000379604.2_Missense_Mutation_p.T224N			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	224					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTACTTCGAGGTGGAGCTGAG	0.627000													5	26					0.000602214	0.000612157	1	1	0
CCDC157	550631	broad.mit.edu	37	22	30772533	30772533	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:30772533C>T	ENST00000405659.1	+	12	2767	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.C686C			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	686										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGCAGCCCTGCACATCCCCAC	0.672000													89	72					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122738808	122738808	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:122738808G>A	ENST00000227348.4	+	9	1098		c.e9+1		CRTAM_ENST00000533709.1_Splice_Site	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AATGGCCAATGTAAGTCAACT	0.353000													21	5					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63212755	63212755	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:63212755C>T	ENST00000399298.3	-	1	453	c.85G>A	c.(85-87)Gag>Aag	p.E29K	RP11-809M12.1_ENST00000389640.4_RNA|TMEM26_ENST00000399293.1_Missense_Mutation_p.E29K	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	29						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TTCTTCACCTCGGTCACTCGC	0.627000													29	33					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337763	13337763	+	Silent	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:13337763A>T	ENST00000380622.2	-	1	755	c.291T>A	c.(289-291)ccT>ccA	p.P97P	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	97	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCTGATATTCAGGATTATTGA	0.343000													37	42					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248268	42248268	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:42248268G>A	ENST00000293414.1	+	1	195	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	37					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCAGTGCCGGAGCCGCAGGT	0.692000													4	7					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46245607	46245607	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:46245607G>A	ENST00000336378.4	+	9	914	c.796G>A	c.(796-798)Gag>Aag	p.E266K	FAM21C_ENST00000374362.2_Missense_Mutation_p.E266K|FAM21C_ENST00000359860.4_Missense_Mutation_p.E210K|FAM21C_ENST00000537517.1_Missense_Mutation_p.E266K|FAM21C_ENST00000540872.1_Missense_Mutation_p.E266K	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	266										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGCTGACTCTGAGAAGGAGGA	0.393000													26	50					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50773678	50773678	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:50773678A>T	ENST00000433963.1	+	12	1719	c.1219A>T	c.(1219-1221)Att>Ttt	p.I407F	USP8_ENST00000396444.3_Splice_Site_p.I407F|USP8_ENST00000307179.4_Splice_Site_p.I407F|USP8_ENST00000425032.3_Splice_Site_p.I330F			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	407					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)		GTTGCTCTAGATTGATCGTAC	0.363000													14	14					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596828	142596828	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:142596828A>G	ENST00000370503.2	-	2	325	c.242T>C	c.(241-243)aTc>aCc	p.I81T	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	81										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTTTTGGATTGGATTGAT	0.403000													49	88					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47357347	47357347	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:47357347T>A	ENST00000294947.2	-	4	487	c.452A>T	c.(451-453)aAa>aTa	p.K151I	C2orf61_ENST00000445927.2_Missense_Mutation_p.K151I|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	151										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAGCATATTTGGGAACTGG	0.408000													17	23					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128036838	128036838	+	Silent	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:128036838C>G	ENST00000493187.2	-	10	1912	c.1449G>C	c.(1447-1449)ctG>ctC	p.L483L	ERCC3_ENST00000285398.2_Silent_p.L547L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	547	Helicase ATP-binding.				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)		GAAACTTGATCAGAAACTGGC	0.388000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				33	39					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913255	111913255	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr6:111913255G>A	ENST00000368761.5	-	2	513	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.S21L|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.S12L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	21					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GTATGGTTCTGATTCATCAAC	0.438000													26	11					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16876951	16876951	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:16876951A>G	ENST00000380087.2	-	4	689	c.329T>C	c.(328-330)gTa>gCa	p.V110A	RBBP7_ENST00000380084.4_Missense_Mutation_p.V154A|RBBP7_ENST00000404022.1_Intron			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	110					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTTTCCTGTTACAGAACCAAA	0.368000													34	42					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51429413	51429413	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:51429413G>A	ENST00000323686.4	+	1	683	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	195	RRM 1.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACGCACGCGAGGCCCGCCA	0.706000													37	5					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99489837	99489837	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr13:99489837G>A	ENST00000376460.1	-	39	4236	c.4156C>T	c.(4156-4158)Ctg>Ttg	p.L1386L	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.L1387L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1387					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACTGGTGCAGAACATCTGCG	0.483000													19	17					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100133225	100133225	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:100133225C>G	ENST00000263174.4	+	3	529	c.154C>G	c.(154-156)Cta>Gta	p.L52V	PALMD_ENST00000605497.1_Missense_Mutation_p.L52V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	52					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GAAATGGCTTCTAGATGGAAT	0.383000													25	49					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256983	69256983	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:69256983C>A	ENST00000439696.2	-	2	585	c.284G>T	c.(283-285)gGc>gTc	p.G95V	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.G95V|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	95					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCCGCTCGCCCCCTTCCGA	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	29					4.26978e-12	4.55513e-12	1	1	0
SMG5	23381	broad.mit.edu	37	1	156236370	156236370	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:156236370C>T	ENST00000361813.5	-	11	1361	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	SMG5_ENST00000489907.2_5'UTR|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	406					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGGATTCTCGCCCTCTTCCAG	0.567000													22	22					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125449082	125449082	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:125449082C>T	ENST00000308736.2	-	15	2001	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M	DHX37_ENST00000544745.1_Missense_Mutation_p.V422M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	635	Helicase C-terminal.						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)		CAGTCCACCACGTACTTGATG	0.587000													17	19					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558668	113558668	+	Silent	SNP	T	T	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:113558668T>G	ENST00000284601.3	-	1	452	c.384A>C	c.(382-384)gcA>gcC	p.A128A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	128	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTCCAGTATTGCTTTCTGTA	0.368000													23	48					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947382	57947382	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:57947382G>A	ENST00000335397.3	+	3	782	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	156					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)				TCTCATCAGTGCCTTGGTGCG	0.532000													13	22					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96852560	96852560	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:96852560G>A	ENST00000337288.5	-	8	1404	c.1021C>T	c.(1021-1023)Ctg>Ttg	p.L341L	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	341						mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTCATTTCCAGAGGCTTAGCT	0.512000													6	14					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020851	151020851	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:151020851C>T	ENST00000368926.5	+	1	636	c.528C>T	c.(526-528)tcC>tcT	p.S176S		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	176						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|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)			GCCAGTGGTCCACACCTGGGT	0.677000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	31					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150789355	150789355	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:150789355C>G	ENST00000358595.5	-	18	1911	c.1711G>C	c.(1711-1713)Ggc>Cgc	p.G571R	ARNT_ENST00000354396.2_Missense_Mutation_p.G571R|ARNT_ENST00000505755.1_Missense_Mutation_p.G556R|ARNT_ENST00000515192.1_Missense_Mutation_p.G557R	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	571					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGAGATGCCTTTACTCTGA	0.532000			T	ETV6	AML								15	27					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456428	30456428	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:30456428C>T	ENST00000478753.2	-	1	1074	c.621G>A	c.(619-621)ggG>ggA	p.G207G	SEPHS2_ENST00000500504.2_Silent_p.G207G|SEPHS2_ENST00000542752.1_Silent_p.G150G			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	207					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TCACTGCCGTCCCTCCTTCCT	0.527000													22	32					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25277151	25277151	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr20:25277151G>A	ENST00000216962.4	+	20	2635	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	842				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AACATCCCCCGGGACTAGGCA	0.607000													8	27					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724090	71724090	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:71724090C>T	ENST00000393695.3	-	15	4790	c.4459G>A	c.(4459-4461)Gct>Act	p.A1487T	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1487T|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1487					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGGGTCTCAGCATCAGCACGT	0.612000			T	RARA	APL								18	41					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148744569	148744569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr3:148744569C>A	ENST00000345003.4	+	8	1202	c.902C>A	c.(901-903)tCa>tAa	p.S301*	GYG1_ENST00000484197.1_Missense_Mutation_p.H211N|GYG1_ENST00000296048.6_Nonsense_Mutation_p.S284*|GYG1_ENST00000479119.1_3'UTR	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	301	Interaction with GYS1.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAGCCATATCACATCTGTCC	0.443000													28	20					1.7881e-09	1.87969e-09	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140957886	140957886	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:140957886C>T	ENST00000253811.6	-	11	1209	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	DIAPH1_ENST00000398557.4_Missense_Mutation_p.D357N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D348N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D303N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D357N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D348N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D348N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D348N			O60610	DIAP1_HUMAN	diaphanous-related formin 1	357	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATATCTTCATTTTCA	0.433000													13	20					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													4	69					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044445	5044445	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:5044445C>T	ENST00000381652.3	+	5	887	c.393C>T	c.(391-393)gcC>gcT	p.A131A	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Silent_p.A131A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	131	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCAACAGAGCCTATCGGCATG	0.378000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				26	39					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699177	17699177	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:17699177C>T	ENST00000399080.2	-	1	529	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	169										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTCTAATTCCATGTATATC	0.408000													23	47					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40339277	40339277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:40339277G>A	ENST00000310169.2	+	3	400	c.261G>A	c.(259-261)tgG>tgA	p.W87*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	87					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCAAATCTGGCACGATGCCT	0.473000													15	14					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139752022	139752022	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:139752022C>T	ENST00000445819.1	+	20	2597	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	MAMDC4_ENST00000317446.2_Silent_p.T770T|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	849	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CAGACCATACCACTGAGACAG	0.672000													14	31					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746679	47746679	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:47746679G>A	ENST00000360380.3	-	13	1814	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	STIL_ENST00000243182.6_Missense_Mutation_p.S484F|STIL_ENST00000337817.5_Missense_Mutation_p.S484F|STIL_ENST00000396221.2_Missense_Mutation_p.S484F|STIL_ENST00000371877.3_Missense_Mutation_p.S484F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	484					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCTCTCAAGGAAGGCTCTCC	0.443000													35	50					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:53207919C>T	ENST00000293774.4	-	1	416	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity	p.R49P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567000													11	15					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7043285	7043285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr18:7043285G>A	ENST00000389658.3	-	8	1189	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	366	Laminin EGF-like 2.				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)	ATGGTGTTCTGCAAGCAATTT	0.393000													42	66					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													4	73					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856347	62856347	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:62856347C>G	ENST00000584306.1	-	11	4447	c.3917G>C	c.(3916-3918)cGc>cCc	p.R1306P	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R283P|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1306P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R344P|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R424P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1306						integral to membrane		p.R1306H(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTGTGAAAGCGGTATTTTTT	0.403000													73	198					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109536302	109536302	+	Silent	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:109536302G>A	ENST00000336865.2	+	1	380	c.171G>A	c.(169-171)ctG>ctA	p.L57L	UNG_ENST00000242576.2_Silent_p.L66L	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	66					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCTCGCCGCTGAGTGCCGAGC	0.692000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				20	14					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893931	32893931	+	RNA	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr16:32893931C>A	ENST00000330048.5	-	0	1326					NR_003083.2																						CTGGCACAGTCTTCATGGCGG	0.592000													15	69					4.35082e-09	4.55146e-09	1	1	0
BRCA1	672	broad.mit.edu	37	17	41215388	41215388	+	Missense_Mutation	SNP	C	C	T	rs80357743		TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:41215388C>T	ENST00000309486.4	-	17	5294	c.4267G>A	c.(4267-4269)Gtg>Atg	p.V1423M	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1740M|BRCA1_ENST00000357654.3_Missense_Mutation_p.V1719M|BRCA1_ENST00000354071.3_Missense_Mutation_p.V1454M|BRCA1_ENST00000351666.3_Missense_Mutation_p.V536M|BRCA1_ENST00000586385.1_Missense_Mutation_p.V29M|BRCA1_ENST00000346315.3_Missense_Mutation_p.V1480M|BRCA1_ENST00000591534.1_Missense_Mutation_p.V210M|BRCA1_ENST00000468300.1_Missense_Mutation_p.V615M|BRCA1_ENST00000352993.3_Missense_Mutation_p.V577M|BRCA1_ENST00000491747.2_Missense_Mutation_p.V615M|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1672M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1719	Interaction with PALB2.				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			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)		GACTGGGTCACCCCTAAAGAG	0.373000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			6	18					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95161005	95161005	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:95161005G>A	ENST00000027335.3	-	14	2018	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	CDH17_ENST00000441892.2_Missense_Mutation_p.P418S|CDH17_ENST00000450165.2_Missense_Mutation_p.P632S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	632	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACCCGATATGGACTTCCGGCT	0.413000													16	24					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9862883	9862883	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:9862883C>T	ENST00000380913.3	+	4	1025	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	312					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAAGCACCATCATCCCCACCT	0.627000													8	11					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17117046	17117046	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:17117046T>C	ENST00000285071.4	-	14	2117	c.1663A>G	c.(1663-1665)Act>Gct	p.T555A	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	555					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTCAGGCCAGTCATCCAGAAC	0.577000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				47	97					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942952	121942952	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:121942952C>A	ENST00000442488.2	-	3	1037	c.970G>T	c.(970-972)Gca>Tca	p.A324S	FEZF1_ENST00000331178.4_Missense_Mutation_p.A320S|FEZF1_ENST00000427185.2_Missense_Mutation_p.A274S	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	324					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTATTAAATGCTTTGCCACAC	0.393000													28	31					2.48779e-11	2.64751e-11	1	1	0
ANO1	55107	broad.mit.edu	37	11	70031760	70031760	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:70031760G>A	ENST00000355303.5	+	25	2958	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	ANO1_ENST00000538023.1_Missense_Mutation_p.A885T|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.A739T|ANO1_ENST00000531349.1_Missense_Mutation_p.A594T|ANO1_ENST00000530676.1_Missense_Mutation_p.A739T	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	885					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGACTTCTGGGCCGTCCTGGC	0.567000													11	36					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459982	16459982	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:16459982C>G	ENST00000358432.5	-	10	2012	c.1858G>C	c.(1858-1860)Gga>Cga	p.G620R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	620	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCACCTGCTCCGATCACCTTC	0.622000													8	15					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930751	46930751	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr4:46930751T>C	ENST00000264318.3	-	9	2138	c.1156A>G	c.(1156-1158)Atg>Gtg	p.M386V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	386					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTTTCTCATGTTCAAATTG	0.323000													8	17					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506444	178506444	+	Silent	SNP	C	C	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:178506444C>T	ENST00000315475.6	+	5	1317	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGAAGGCCTTCAACTGTAGAG	0.428000													71	97					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797424	125797424	+	Silent	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:125797424G>T	ENST00000373642.1	+	1	619	c.579G>T	c.(577-579)ctG>ctT	p.L193L	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	193						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTTCACCCTGTTCATCGTGA	0.498000													27	78					1.32003e-05	1.34818e-05	1	1	0
PSAP	5660	broad.mit.edu	37	10	73591673	73591673	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:73591673G>A	ENST00000394936.3	-	3	326	c.179C>T	c.(178-180)tCc>tTc	p.S60F	PSAP_ENST00000394934.1_Missense_Mutation_p.S60F			P07602	SAP_HUMAN	prosaposin	60	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGGGAAGGGATTTCTAAGA	0.493000													29	38					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403478	136403478	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:136403478T>C	ENST00000393061.3	+	4	1000	c.568T>C	c.(568-570)Tcc>Ccc	p.S190P	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.S81P|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.S81P			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	81					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGGAGGAAGTCCGTCCCGGG	0.672000													57	29					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230224	7230224	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:7230224C>G	ENST00000399464.2	-	4	913	c.898G>C	c.(898-900)Ggc>Cgc	p.G300R	NEURL4_ENST00000570460.1_Missense_Mutation_p.G278R|NEURL4_ENST00000315614.7_Missense_Mutation_p.G300R	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATCCCAGGCCTTCCCCTGCC	0.567000													18	43					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475597	120475597	+	Silent	SNP	G	G	T			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:120475597G>T	ENST00000355622.6	+	3	1292	c.1191G>T	c.(1189-1191)ggG>ggT	p.G397G	TLR4_ENST00000394487.4_Silent_p.G357G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	397					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGATTTTGGGACAACCAGCC	0.393000													65	46					9.40535e-28	1.03941e-27	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293427	145293428	+	Frame_Shift_Ins	INS	-	-	G	rs146713722	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:145293427_145293428insG	ENST00000342960.5	+	1	57_58	c.22_23insG	c.(22-24)tggfs	p.W8fs	NBPF10_ENST00000369339.3_Frame_Shift_Ins_p.W8fs|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	8										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGCCGGCCCTTGGTCCAGTGAG	0.495													60	1159	---	---	---	---					
TPR	7175	broad.mit.edu	37	1	186337095	186337105	+	Frame_Shift_Del	DEL	TTTGTTCTTGT	TTTGTTCTTGT	-	rs144723999	by1000genomes	TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr1:186337095_186337105delTTTGTTCTTGT	ENST00000367478.4	-	4	636_646	c.340_350delACAAGAACAAA	c.(340-351)acaagaacaaagfs	p.TRTK114fs	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TAATTCTTCCTTTGTTCTTGTAAATTGGCTC	0.332			T	NTRK1	papillary thyroid								10	13	---	---	---	---					
CWC22	57703	broad.mit.edu	37	2	180819028	180819042	+	In_Frame_Del	DEL	TTCTTTGAATATACC	TTCTTTGAATATACC	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr2:180819028_180819042delTTCTTTGAATATACC	ENST00000410053.3	-	16	1878_1892	c.1579_1593delGGTATATTCAAAGAA	c.(1579-1593)ggtatattcaaagaadel	p.GIFKE527del	CWC22_ENST00000295749.6_In_Frame_Del_p.GIFKE527del	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	527	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TATCATACTGTTCTTTGAATATACCTTCAAAGGAT	0.321													8	19	---	---	---	---					
GFM2	84340	broad.mit.edu	37	5	74021929	74021930	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr5:74021929_74021930insC	ENST00000296805.3	-	18	2205_2206	c.1748_1749insG	c.(1747-1749)ggafs	p.G583fs	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Frame_Shift_Ins_p.G583fs|GFM2_ENST00000345239.2_Frame_Shift_Ins_p.G536fs	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	583					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCCTTTTGTCTCCTAAAGTTCT	0.356													34	73	---	---	---	---					
MIR148A	406940	broad.mit.edu	37	7	25989556	25989557	+	RNA	INS	-	-	GC			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:25989556_25989557insGC	ENST00000362215.1	-	0	49_50					NR_029597.1																						AGTTCTGTAGTGCACTGACTTC	0.559													13	24	---	---	---	---					
TRBV5-6	28609	broad.mit.edu	37	7	142131408	142131431	+	RNA	DEL	TGTGCCAAGCTGCTGGCACAGAGA	TGTGCCAAGCTGCTGGCACAGAGA	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:142131408_142131431delTGTGCCAAGCTGCTGGCACAGAGA	ENST00000390375.2	-	0	364_384																											TCTGATGGGCTGTGCCAAGCTGCTGGCACAGAGATAGAGGGCCG	0.527													15	50	---	---	---	---					
SHH	6469	broad.mit.edu	37	7	155596206	155596216	+	Frame_Shift_Del	DEL	CTCCCGCGTCT	CTCCCGCGTCT	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr7:155596206_155596216delCTCCCGCGTCT	ENST00000297261.2	-	3	917_927	c.767_777delAGACGCGGGAG	c.(766-777)gagacgcgggagfs	p.ETRE256fs		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	256					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCGCGCGGCTCCCGCGTCTCGATCACGTA	0.716													4	4	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101733634	101733634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr8:101733634delG	ENST00000318607.5	-	1	1306	c.178delC	c.(178-180)cagfs	p.Q61fs	PABPC1_ENST00000519004.1_Frame_Shift_Del_p.Q16fs|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.Q61fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	61	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCCGGCTGCTGGAAGTTCACA	0.751													54	19	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100092795	100092795	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:100092795delA	ENST00000375202.2	+	32	3504	c.2152delA	c.(2152-2154)aaafs	p.K719fs	CCDC180_ENST00000529487.1_Frame_Shift_Del_p.K719fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Frame_Shift_Del_p.K858fs|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Frame_Shift_Del_p.K716fs					coiled-coil domain containing 180																		GGGGCAGCAGAAAAAATCTCC	0.463													20	23	---	---	---	---					
DNM1	1759	broad.mit.edu	37	9	130986654	130986662	+	In_Frame_Del	DEL	CAGTGCACC	CAGTGCACC	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr9:130986654_130986662delCAGTGCACC	ENST00000341179.7	+	10	1413_1421	c.1321_1329delCAGTGCACC	c.(1321-1329)cagtgcaccdel	p.QCT441del	DNM1_ENST00000486160.1_Intron|DNM1_ENST00000475805.1_Intron|DNM1_ENST00000372923.3_In_Frame_Del_p.QCT441del|DNM1_ENST00000393594.3_Intron	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	441					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CACCGTTAGACAGTGCACCAAGAAGGTAA	0.612													19	70	---	---	---	---					
FBXO18	84893	broad.mit.edu	37	10	5963400	5963416	+	Splice_Site	DEL	TCTCCCTAAAGGTGGCA	TCTCCCTAAAGGTGGCA	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:5963400_5963416delTCTCCCTAAAGGTGGCA	ENST00000379999.5	+	16	2457_2463	c.2353_2359delTCTCCCTAAAGGTGGCA	c.(2353-2361)tctccctaa>aa	p.SP*785fs	FBXO18_ENST00000397269.3_Splice_Site_p.SP*221fs|FBXO18_ENST00000362091.4_Splice_Site_p.SP*734fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	734					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						GTTTGTGCTCTCTCCCTAAAGGTGGCATTAGAGGTGA	0.470													39	59	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37418870	37418877	+	Frame_Shift_Del	DEL	TTTCTGGT	TTTCTGGT	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr10:37418870_37418877delTTTCTGGT	ENST00000374660.1	+	2	202_209	c.103_110delTTTCTGGT	c.(103-111)tttctggtafs	p.FLV35fs	ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.FLV35fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.FLV35fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	91						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTAGTAACATTTCTGGTAGACAGAAAG	0.466													14	27	---	---	---	---					
PARVA	55742	broad.mit.edu	37	11	12399181	12399193	+	Frame_Shift_Del	DEL	GCCTGCGCCGCGC	GCCTGCGCCGCGC	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr11:12399181_12399193delGCCTGCGCCGCGC	ENST00000334956.8	+	1	450_462	c.107_119delGCCTGCGCCGCGC	c.(106-120)agcctgcgccgcgccfs	p.SLRRA36fs	PARVA_ENST00000539723.1_5'UTR|PARVA_ENST00000550549.1_5'UTR	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	0					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCCCGCGGCAGCCTGCGCCGCGCCATGGCCACC	0.681													8	10	---	---	---	---					
FGD6	55785	broad.mit.edu	37	12	95603086	95603087	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr12:95603086_95603087delGG	ENST00000343958.4	-	2	2196_2197	c.1973_1974delCC	c.(1972-1974)accfs	p.T659fs	FGD6_ENST00000549499.1_Frame_Shift_Del_p.T659fs|FGD6_ENST00000546711.1_Frame_Shift_Del_p.T659fs	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	659					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						GGTGGCCTGTGGTGGTGTCTCC	0.450													54	46	---	---	---	---					
TUBGCP3	10426	broad.mit.edu	37	13	113202484	113202484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr13:113202484delA	ENST00000261965.3	-	9	1159	c.973delT	c.(973-975)tgtfs	p.C325fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Del_p.C325fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	325					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAGGCAGCACAAAAGCTCTGT	0.318													29	30	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													6	10	---	---	---	---					
FOS	2353	broad.mit.edu	37	14	75748065	75748066	+	In_Frame_Ins	INS	-	-	GCA			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr14:75748065_75748066insGCA	ENST00000303562.4	+	4	1290_1291	c.1081_1082insGCA	c.(1081-1083)ggc>gGCAgc	p.364_365insS	FOS_ENST00000535987.1_In_Frame_Ins_p.328_329insS|FOS_ENST00000555686.1_In_Frame_Ins_p.250_251insS|FOS_ENST00000555347.1_In_Frame_Ins_p.216_217insS	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	364					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCACCGCAAGGGCAGCAGCAGC	0.644													17	32	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93486053	93486076	+	Splice_Site	DEL	TGTACTTAATCCTTTTGCAGCCAC	TGTACTTAATCCTTTTGCAGCCAC	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr15:93486053_93486076delTGTACTTAATCCTTTTGCAGCCAC	ENST00000394196.4	+	9	1894_1898	c.826_830delTGTACTTAATCCTTTTGCAGCCAC	c.(826-831)tgtact>t	p.CT276del	CHD2_ENST00000420239.2_Splice_Site_p.CT276del|CHD2_ENST00000557381.1_Splice_Site_p.CT276del|CHD2_ENST00000536619.1_Splice_Site_p.CT289del	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	276	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCTTTCAAGTGTACTTAATCCTTTTGCAGCCACTGGAGCATCT	0.397													7	10	---	---	---	---					
SMG8	55181	broad.mit.edu	37	17	57287621	57287626	+	In_Frame_Del	DEL	CGGTGT	CGGTGT	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr17:57287621_57287626delCGGTGT	ENST00000543872.2	+	2	473_478	c.209_214delCGGTGT	c.(208-216)acggtgtgc>agc	p.70_72TVC>S	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_In_Frame_Del_p.70_72TVC>S|SMG8_ENST00000578922.1_In_Frame_Del_p.70_72TVC>S			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	70					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTTGTGAATACGGTGTGCGACCGACA	0.592													7	20	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37571373	37571374	+	Frame_Shift_Ins	INS	-	-	CAGAGTAA			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr21:37571373_37571374insCAGAGTAA	ENST00000399151.3	+	3	229_230	c.144_145insCAGAGTAA	c.(145-147)cagfs	p.-51fs	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2						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						GACAGGCTCTTCAGAGTAACCT	0.480													10	31	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50727507	50727508	+	Frame_Shift_Ins	INS	-	-	CGTCG			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chr22:50727507_50727508insCGTCG	ENST00000449103.1	-	4	1272_1273	c.1132_1133insCGACG	c.(1132-1134)gggfs	p.G378fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.G378fs			O15031	PLXB2_HUMAN	plexin B2	378	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTCTGAGCCCGTCGCGGCTG	0.668													4	3	---	---	---	---					
SMARCA1	6594	broad.mit.edu	37	X	128625903	128625917	+	Splice_Site	DEL	TTAAAGATTACTAAC	TTAAAGATTACTAAC	-			TCGA-XF-A9T6-01A-11D-A42E-08	TCGA-XF-A9T6-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ca8fa41-bdf4-4533-aad5-a5b2866854fc	aa1b9e6c-9d11-47bf-a723-d5344d7cb004	g.chrX:128625903_128625917delTTAAAGATTACTAAC	ENST00000371122.4	-	14	1945		c.e14+1		SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.?(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTGACACCATTAAAGATTACTAACCATAGCTTGT	0.353													25	60	---	---	---	---