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
CHRND	1144	broad.mit.edu	37	2	233396253	233396253	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:233396253T>C	ENST00000258385.3	+	9	966	c.932_splice	c.e9-1	p.F312_splice	CHRND_ENST00000536614.1_3'UTR|CHRND_ENST00000457943.2_Splice_Site_p.F118_splice|CHRND_ENST00000543200.1_Splice_Site_p.F297_splice	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	312					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGCCCACAGGTTCCTGCTCTT	0.597000													21	113					0	0	0.001523	0	0
NUP85	79902	broad.mit.edu	37	17	73229030	73229030	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73229030A>G	ENST00000447371.2	+	14	1401	c.977A>G	c.(976-978)aAg>aGg	p.K326R	NUP85_ENST00000540768.1_Missense_Mutation_p.K97R|NUP85_ENST00000579324.1_Missense_Mutation_p.K382R|NUP85_ENST00000579298.1_Missense_Mutation_p.K449R|NUP85_ENST00000541827.1_Missense_Mutation_p.K448R|NUP85_ENST00000245544.4_Missense_Mutation_p.K494R			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	494					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATCCGTGCTAAGGATGCCGCC	0.577000													19	95					0	0	0.008871	0	0
LRIT3	345193	broad.mit.edu	37	4	110788811	110788811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:110788811C>T	ENST00000327908.3	+	3	819	c.55C>T	c.(55-57)Cct>Tct	p.P19S	LRIT3_ENST00000379920.3_Missense_Mutation_p.P157S|LRIT3_ENST00000409621.2_Missense_Mutation_p.P19S|LRIT3_ENST00000594814.1_Missense_Mutation_p.P202S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	157						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACAGGACAATCCTTGGTTCTG	0.423000													19	22					0	0	0.001523	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457826	5457826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:5457826C>T	ENST00000296564.7	+	12	1295	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	358	Pro-rich.							p.P358Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCACCTCACCCGGGTTCCTTA	0.458000													69	199					0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852413	144852413	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:144852413A>G	ENST00000369356.4	-	44	7320	c.7030T>C	c.(7030-7032)Tcc>Ccc	p.S2344P	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000369354.3_3'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR	NM_001198834.2|NM_014644.4	NP_001185763.2|NP_055459.4	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1955					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTTAAGGACTTCTGGTGG	0.552000			T	PDGFRB	MPD								6	70					0	0	0.001984	0	0
MARS2	92935	broad.mit.edu	37	2	198571316	198571316	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:198571316A>G	ENST00000282276.6	+	1	1230	c.1187A>G	c.(1186-1188)aAc>aGc	p.N396S	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	396					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AAGTTGCTGAACTCCGAGCTG	0.522000													29	179					0	0	0.007291	0	0
ABCF2	10061	broad.mit.edu	37	7	150921023	150921023	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150921023T>C	ENST00000287844.2	-	4	654	c.545A>G	c.(544-546)gAg>gGg	p.E182G	ABCF2_ENST00000222388.2_Missense_Mutation_p.E182G	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	182	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTACCATCCTCATGAGCCAG	0.602000													11	95					0	0	0.008291	0	0
NRDE2	55051	broad.mit.edu	37	14	90769285	90769285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:90769285G>A	ENST00000354366.3	-	6	1422	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	NRDE2_ENST00000357904.3_Missense_Mutation_p.P166L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CAGAGTGGAGGGCTCCCAGAA	0.488000													26	71					0	0	0.006320	0	0
ATP2A2	488	broad.mit.edu	37	12	110784264	110784264	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:110784264T>C	ENST00000395494.2	+	19	3600	c.3037T>C	c.(3037-3039)Ttc>Ctc	p.F1013L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.F1040L|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1040					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGCGATATGTTCTGGTCTTG	0.393000													13	38					0	0	0.004990	0	0
SH2D7	646892	broad.mit.edu	37	15	78393753	78393753	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:78393753G>A	ENST00000328828.5	+	5	1158	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	SH2D7_ENST00000409568.2_Silent_p.R250R	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	386										endometrium(2)|kidney(2)|lung(3)	7						GCCCAGCCAGGGCCCCACATC	0.612000													8	11					0	0	0.004482	0	0
CDH17	1015	broad.mit.edu	37	8	95182670	95182670	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:95182670G>C	ENST00000027335.3	-	9	1145	c.1021C>G	c.(1021-1023)Ccg>Gcg	p.P341A	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P341A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	341	Cadherin 4.					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)			ACTGGTGACGGACATGTAGGT	0.413000													21	149					0	0	0.001882	0	0
SCAMP2	10066	broad.mit.edu	37	15	75142926	75142926	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75142926G>A	ENST00000268099.9	-	6	670	c.561C>T	c.(559-561)tcC>tcT	p.S187S		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	187					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACCACAGGATGGAGAGGCCAA	0.567000													37	60					0	0	0.004878	0	0
TRH	7200	broad.mit.edu	37	3	129695631	129695631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129695631G>A	ENST00000302649.3	+	3	828	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TRH_ENST00000507066.1_Missense_Mutation_p.E97K	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	101					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						tgaagaagaggaagaggaaga	0.567000													16	26					0	0	0.003163	0	0
ZAK	51776	broad.mit.edu	37	2	174047583	174047583	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:174047583A>G	ENST00000338983.3	+	4	444	c.247_splice	c.e4-1	p.E83_splice	MLTK_ENST00000539448.1_Splice_Site_p.E83_splice|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000431503.2_5'UTR|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000375213.3_Splice_Site_p.E83_splice|MLTK_ENST00000409176.2_Splice_Site_p.E83_splice	NM_133646.2	NP_598407.1																					TTAAAATAGAATATGCTTCTC	0.303000													14	42					0	0	0.004007	0	0
ZNF449	203523	broad.mit.edu	37	X	134494127	134494127	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:134494127T>A	ENST00000339249.4	+	5	823	c.683T>A	c.(682-684)aTc>aAc	p.I228N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTTGAGATCGGGATAGAA	0.363000													8	29					0	0	0.003080	0	0
FAM188B	84182	broad.mit.edu	37	7	30898925	30898925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:30898925C>T	ENST00000265299.6	+	13	1807	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	AQP1_ENST00000509504.1_Missense_Mutation_p.S40F|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	577										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCATCCTGTCCAGGTCTACA	0.567000													25	57					0	0	0.008361	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803777	160803777	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:160803777T>C	ENST00000392781.2	-	8	1513	c.766A>G	c.(766-768)Atg>Gtg	p.M256V	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.M256V|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.M256V|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.M256V|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.M256V|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.M256V	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	256					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGACCCATCATTTCATAGATC	0.383000													15	58					0	0	0.007413	0	0
MAP1A	4130	broad.mit.edu	37	15	43822055	43822055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:43822055G>A	ENST00000382031.1	+	6	8988	c.8957G>A	c.(8956-8958)gGg>gAg	p.G2986E	MAP1A_ENST00000399453.1_Missense_Mutation_p.G2748E|MAP1A_ENST00000300231.5_Missense_Mutation_p.G2748E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2748						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCCAGTGGGGGGAGAATCTT	0.552000													12	10					0	0	0.000978	0	0
OR2M4	26245	broad.mit.edu	37	1	248402405	248402405	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:248402405A>G	ENST00000306687.1	+	1	175	c.175A>G	c.(175-177)Atg>Gtg	p.M59V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACACCCCCATGTACTTCCT	0.458000													13	117					0	0	0.001855	0	0
TSEN54	283989	broad.mit.edu	37	17	73520462	73520462	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73520462A>G	ENST00000333213.6	+	11	1586	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	517					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTTCAGGGACTTCACGTTG	0.582000													7	73					0	0	0.006214	0	0
COL4A3	1285	broad.mit.edu	37	2	228155481	228155481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:228155481G>A	ENST00000396578.3	+	37	3251	c.3089G>A	c.(3088-3090)gGa>gAa	p.G1030E	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1030	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAAAAGGGGAACTTTGGGA	0.428000													15	42					0	0	0.006122	0	0
CCDC174	51244	broad.mit.edu	37	3	14696016	14696016	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14696016A>G	ENST00000383794.3	+	2	199	c.126A>G	c.(124-126)ggA>ggG	p.G42G	CCDC174_ENST00000303688.7_Silent_p.G42G	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		GAGTTTTTGGAAAACCAAAAA	0.308000													5	30					0	0	0.000602	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622071	234622071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:234622071C>T	ENST00000373414.3	+	1	434	c.434C>T	c.(433-435)tCc>tTc	p.S145F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CATGCTACTTCCTTTGATGTG	0.463000													61	143					0	0	0.003610	0	0
AREG	374	broad.mit.edu	37	4	75314910	75314910	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:75314910T>C	ENST00000395748.3	+	3	669	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	AREG_ENST00000502307.1_Missense_Mutation_p.F153L|AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.F153L	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	153	EGF-like.				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			ATTTCAAAATTTCTGCATTCA	0.323000													10	12					0	0	0.001855	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768805	18768805	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:18768805C>T	ENST00000304081.4	-	2	184	c.84G>A	c.(82-84)aaG>aaA	p.K28K	NT5C1B_ENST00000359846.2_Silent_p.K28K|NT5C1B_ENST00000600945.1_Silent_p.K28K|NT5C1B-RDH14_ENST00000532967.1_Silent_p.K28K|NT5C1B_ENST00000460052.1_5'UTR	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGTCAGATTCCTTTCTTTTTT	0.388000													46	86					0	0	0.003610	0	0
SFXN4	119559	broad.mit.edu	37	10	120925159	120925159	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:120925159T>C	ENST00000355697.2	-	1	20	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Start_Codon_SNP_p.M1V	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	1					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCCAGGGACATTTTGCGCTGG	0.716000													7	35					0	0	0.003080	0	0
PRDM14	63978	broad.mit.edu	37	8	70970971	70970971	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:70970971C>T	ENST00000276594.2	-	6	1491	c.1290G>A	c.(1288-1290)agG>agA	p.R430R		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGGAAATTTCCTATCGCCCT	0.478000													21	59					0	0	0.002780	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145187	56145187	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:56145187C>T	ENST00000394555.2	-	4	566		c.e4-1		EFEMP1_ENST00000394554.1_Splice_Site|EFEMP1_ENST00000355426.3_Splice_Site|EFEMP1_ENST00000424836.2_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1						negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATCAATATCTGTGGTCAGT	0.398000													29	39					0	0	0.005443	0	0
NCLN	56926	broad.mit.edu	37	19	3193415	3193415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:3193415C>T	ENST00000246117.4	+	3	940	c.509C>T	c.(508-510)tCt>tTt	p.S170F	NCLN_ENST00000590671.1_Missense_Mutation_p.S96F	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	170					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCGCCTCTGCTGCTGAA	0.682000													10	19					0	0	0.001855	0	0
ASTN1	460	broad.mit.edu	37	1	177001820	177001820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:177001820C>T	ENST00000367654.2	-	3	650	c.637G>A	c.(637-639)Gga>Aga	p.G213R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G213R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G213R|ASTN1_ENST00000367657.3_Missense_Mutation_p.G213R			O14525	ASTN1_HUMAN	astrotactin 1	213					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTCCCGTCCGTGCCCGCCG	0.622000													15	77					0	0	0.004990	0	0
TET2	54790	broad.mit.edu	37	4	106156079	106156079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:106156079C>T	ENST00000540549.1	+	3	1840	c.980C>T	c.(979-981)tCa>tTa	p.S327L	TET2_ENST00000380013.4_Missense_Mutation_p.S327L|TET2_ENST00000545826.1_Missense_Mutation_p.S327L|TET2_ENST00000394764.1_Missense_Mutation_p.S327L|TET2_ENST00000513237.1_Missense_Mutation_p.S348L|TET2_ENST00000413648.2_Missense_Mutation_p.S327L|TET2_ENST00000305737.2_Missense_Mutation_p.S327L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	327					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S327fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAACAAAAATCAGTTTTTGAG	0.423000			"""Mis N, F"""		MDS								18	11					0	0	0.002299	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199482	71199482	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:71199482C>T	ENST00000554752.2	-	11	2603	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E	MAP3K9_ENST00000381250.4_Silent_p.E845E|MAP3K9_ENST00000553414.1_Silent_p.E601E|MAP3K9_ENST00000554146.1_Silent_p.E596E|MAP3K9_ENST00000555993.2_Silent_p.E882E			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	868	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGGGAGGGGCCTCGACTGGGC	0.572000													11	68					0	0	0.000978	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488683	31488683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:31488683C>T	ENST00000394863.3	+	11	1302	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P374L|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P374L|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P374L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	391	LIM zinc-binding 3.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GAGGGCCGCCCGTTGTGCGAG	0.682000													7	15					0	0	0.004482	0	0
DGCR14	8220	broad.mit.edu	37	22	19125788	19125788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:19125788G>A	ENST00000252137.6	-	7	908	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	289					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACTCCTGGGGGATCAGCTCC	0.627000													6	21					0	0	0.003080	0	0
BRCA2	675	broad.mit.edu	37	13	32915029	32915029	+	Silent	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:32915029T>G	ENST00000544455.1	+	11	6764	c.6537T>G	c.(6535-6537)gtT>gtG	p.V2179V	BRCA2_ENST00000380152.3_Silent_p.V2179V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2179					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACATTCATGTTTTGGGAAAAG	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	25					0	0	0.001168	0	0
ECH1	1891	broad.mit.edu	37	19	39322081	39322081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:39322081G>A	ENST00000221418.4	-	2	360	c.128C>T	c.(127-129)tCc>tTc	p.S43F	AC104534.3_ENST00000594769.1_Missense_Mutation_p.P213S|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTACTCCGGAAGCCTCCTC	0.577000													14	35					0	0	0.003163	0	0
CIAO1	9391	broad.mit.edu	37	2	96937022	96937022	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:96937022T>C	ENST00000488633.1	+	7	1172	c.953T>C	c.(952-954)cTa>cCa	p.L318P		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	318					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						GAGCCAGGGCTACTGGCCTCC	0.592000													13	45					0	0	0.003163	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001489	52001489	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:52001489G>A	ENST00000291707.3	-	5	1243	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SIGLEC12_ENST00000598614.1_Silent_p.S278S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	396	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAAGGTGCAGGGACTGGCCCT	0.602000													17	16					0	0	0.001523	0	0
CHD4	1108	broad.mit.edu	37	12	6702381	6702381	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:6702381A>G	ENST00000309577.6	-	17	2691	c.2528T>C	c.(2527-2529)gTg>gCg	p.V843A	CHD4_ENST00000357008.2_Missense_Mutation_p.V843A|CHD4_ENST00000544484.1_Missense_Mutation_p.V840A|CHD4_ENST00000544040.1_Missense_Mutation_p.V836A			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	843	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGGAATTTCACAGATGCCTC	0.468000													14	64					0	0	0.003163	0	0
USP19	10869	broad.mit.edu	37	3	49152456	49152456	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:49152456T>G	ENST00000453664.1	-	14	2399	c.2081A>C	c.(2080-2082)gAc>gCc	p.D694A	USP19_ENST00000398898.2_Missense_Mutation_p.D643A|USP19_ENST00000398896.1_Missense_Mutation_p.D411A|USP19_ENST00000417901.1_Missense_Mutation_p.D706A|USP19_ENST00000434032.2_Missense_Mutation_p.D704A|USP19_ENST00000398892.3_Missense_Mutation_p.D643A|USP19_ENST00000398888.2_Missense_Mutation_p.D603A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	603					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGATTCAGGTCCTCGTGCAG	0.572000													15	28					0	0	0.003163	0	0
FAM208B	54906	broad.mit.edu	37	10	5788707	5788707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:5788707G>A	ENST00000328090.5	+	15	3948	c.3323G>A	c.(3322-3324)aGg>aAg	p.R1108K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1108																	CAAGGCCTGAGGGACATTCCC	0.468000													63	45					0	0	0.003610	0	0
UBAP2	55833	broad.mit.edu	37	9	33971691	33971691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:33971691C>T	ENST00000379238.1	-	8	754	c.637G>A	c.(637-639)Gta>Ata	p.V213I	UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.V213I|UBAP2_ENST00000449054.1_Missense_Mutation_p.V213I|UBAP2_ENST00000379239.4_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	213										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCCCAAACTACTAGCTTTGTC	0.383000													27	204					0	0	0.002836	0	0
PROX2	283571	broad.mit.edu	37	14	75329421	75329421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:75329421G>A	ENST00000556489.2	-	1	1116	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.P373S	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	373					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTGAGGAGGGGTGCCTCTGG	0.542000													19	25					0	0	0.006122	0	0
NABP2	79035	broad.mit.edu	37	12	56622968	56622968	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56622968A>G	ENST00000380198.2	+	6	1105	c.607A>G	c.(607-609)Aaa>Gaa	p.K203E	NABP2_ENST00000341463.5_Missense_Mutation_p.K203E|NABP2_ENST00000267023.4_Missense_Mutation_p.K203E					nucleic acid binding protein 2																		TAGTAACGGCAAAGAAACCCG	0.577000													19	52					0	0	0.003954	0	0
FAM83H	286077	broad.mit.edu	37	8	144810185	144810185	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144810185A>G	ENST00000388913.3	-	5	1571	c.1446T>C	c.(1444-1446)ggT>ggC	p.G482G		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	482					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTCCGCGAAACCCGCGCGGC	0.726000													6	42					0	0	0.001168	0	0
TLR9	54106	broad.mit.edu	37	3	52258079	52258079	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:52258079G>T	ENST00000597542.1	-	9	1282	c.325C>A	c.(325-327)Cac>Aac	p.H109N	TLR9_ENST00000360658.2_Missense_Mutation_p.H85N|TLR9_ENST00000494383.1_Missense_Mutation_p.P238Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	85					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGGGCAGGTGGGCAAAGTCA	0.617000													10	69					3.07112e-06	5.20952e-06	0.000978	1	0
TG	7038	broad.mit.edu	37	8	133900485	133900485	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:133900485A>G	ENST00000220616.4	+	10	2473	c.2433A>G	c.(2431-2433)gaA>gaG	p.E811E	TG_ENST00000377869.1_Silent_p.E811E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	811	Thyroglobulin type-1 7.				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)		GCTACAGAGAAGCAGCTTCCG	0.512000													14	67					0	0	0.002450	0	0
ATL2	64225	broad.mit.edu	37	2	38525630	38525630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:38525630G>A	ENST00000378954.4	-	12	1289	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	ATL2_ENST00000452935.2_Missense_Mutation_p.R412C|ATL2_ENST00000406122.1_Missense_Mutation_p.R259C|ATL2_ENST00000419554.2_Missense_Mutation_p.R430C|ATL2_ENST00000539122.1_Missense_Mutation_p.R259C|ATL2_ENST00000402054.1_Missense_Mutation_p.R259C|ATL2_ENST00000332337.4_Missense_Mutation_p.R412C|ATL2_ENST00000546051.1_Missense_Mutation_p.R259C	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	430					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTACTGAACGAAATTGTTTT	0.428000													51	99					0	0	0.003610	0	0
EML2	24139	broad.mit.edu	37	19	46124524	46124524	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:46124524T>C	ENST00000536630.1	-	14	1642	c.1504A>G	c.(1504-1506)Acc>Gcc	p.T502A	EML2_ENST00000589876.1_Missense_Mutation_p.T355A|EML2_ENST00000587152.1_Missense_Mutation_p.T556A|EML2_ENST00000245925.3_Missense_Mutation_p.T355A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	355					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCGGGTGGTCCCCACGTAC	0.627000													10	33					0	0	0.008291	0	0
GBA2	57704	broad.mit.edu	37	9	35738893	35738893	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:35738893T>C	ENST00000378094.4	-	12	2316	c.1803A>G	c.(1801-1803)gaA>gaG	p.E601E	GBA2_ENST00000378103.3_Silent_p.E601E|GBA2_ENST00000545786.1_Silent_p.E607E|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	601					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCCATGGTTCATCATCTG	0.502000													8	41					0	0	0.003080	0	0
LCP2	3937	broad.mit.edu	37	5	169677840	169677840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:169677840G>A	ENST00000046794.5	-	20	1988	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.P253L	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	458	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GAGGACATATGGATTGGTTGT	0.378000													19	30					0	0	0.007413	0	0
IL20RA	53832	broad.mit.edu	37	6	137322981	137322981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:137322981G>A	ENST00000367748.1	-	6	1629	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	IL20RA_ENST00000541547.1_Missense_Mutation_p.P410L|IL20RA_ENST00000316649.5_Missense_Mutation_p.P459L			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	459						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGCGCCAGGGGGTCTAAGTC	0.587000													20	33					0	0	0.003330	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772937	5772937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5772937G>A	ENST00000381624.3	+	20	1963	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	634						integral to membrane		p.M634I(1)									GGACCACCATGATAAAGGAAT	0.557000													21	24					0	0	0.001882	0	0
CAPN10	11132	broad.mit.edu	37	2	241534534	241534534	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:241534534A>G	ENST00000391984.2	+	7	1287	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.N364S|CAPN10_ENST00000391982.2_Missense_Mutation_p.N364S|CAPN10_ENST00000404753.3_Missense_Mutation_p.N364S	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	364	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TTTCCCAGCAACCCCAAATTC	0.662000													11	61					0	0	0.008291	0	0
ZNF683	257101	broad.mit.edu	37	1	26691406	26691406	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:26691406G>T	ENST00000436292.1	-	4	751	c.631C>A	c.(631-633)Cta>Ata	p.L211I	ZNF683_ENST00000403843.1_Missense_Mutation_p.L211I|ZNF683_ENST00000349618.3_Missense_Mutation_p.L211I|ZNF683_ENST00000374204.1_Missense_Mutation_p.L211I			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L196T(1)|p.L211T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCAGAAGGTAGGGCCCCATAG	0.582000													10	24					5.16669e-11	8.82964e-11	0.000978	1	0
FNDC1	84624	broad.mit.edu	37	6	159650965	159650965	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:159650965C>T	ENST00000297267.9	+	10	1499	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	433	Fibronectin type-III 4.					extracellular region		p.F433F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTATCTTTTCAAAATCCGGG	0.527000													94	75					0	0	0.003610	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46940288	46940288	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:46940288A>G	ENST00000258947.3	+	13	1363	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.N442S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.N445S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.N379S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.N349S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	421	Interaction with MYO6.				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTTTGTTTCAATTGTCCAATT	0.463000													16	59					0	0	0.004007	0	0
FBF1	85302	broad.mit.edu	37	17	73908360	73908360	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73908360A>G	ENST00000586717.1	-	28	3504	c.3231T>C	c.(3229-3231)cgT>cgC	p.R1077R	FBF1_ENST00000319129.5_Silent_p.R1077R|RP11-552F3.12_ENST00000587556.1_Silent_p.R19R|FBF1_ENST00000389570.4_Silent_p.R1078R			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1077										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTGCACCAACGGGTGGTGG	0.622000													3	16					0	0	0.004672	0	0
CBLN4	140689	broad.mit.edu	37	20	54575886	54575886	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:54575886A>G	ENST00000064571.2	-	2	1609	c.309T>C	c.(307-309)ggT>ggC	p.G103G		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	103	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TGAAAAAATTACCCACATTCA	0.318000													11	55					0	0	0.001368	0	0
NUP210L	91181	broad.mit.edu	37	1	154067420	154067420	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154067420T>G	ENST00000368559.3	-	15	2249	c.2178A>C	c.(2176-2178)ttA>ttC	p.L726F	NUP210L_ENST00000271854.3_Missense_Mutation_p.L726F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	726						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTGTTCCCCTAAATCCAGGC	0.393000													15	27					0	0	0.006122	0	0
NOP56	10528	broad.mit.edu	37	20	2636679	2636679	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:2636679A>G	ENST00000329276.5	+	8	1525	c.1010_splice	c.e8+1	p.R337_splice	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	337	Nop.				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						GGCCCTGTTCAGGTACCAGTG	0.592000													7	30					0	0	0.003080	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301687	139301687	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:139301687A>G	ENST00000298537.7	-	4	871	c.660T>C	c.(658-660)tcT>tcC	p.S220S	SDCCAG3_ENST00000357365.3_Silent_p.S243S|SDCCAG3_ENST00000371725.3_Silent_p.S170S	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	243						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCCTGCCGGAGAGGCCGGAG	0.597000													5	23					0	0	0.000602	0	0
ESRRG	2104	broad.mit.edu	37	1	216850609	216850609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:216850609C>T	ENST00000391890.3	-	4	729	c.212G>A	c.(211-213)aGt>aAt	p.S71N	ESRRG_ENST00000408911.3_Missense_Mutation_p.S94N|ESRRG_ENST00000463665.1_Missense_Mutation_p.S71N|ESRRG_ENST00000361395.2_Missense_Mutation_p.S71N|ESRRG_ENST00000366940.2_Missense_Mutation_p.S71N|ESRRG_ENST00000359162.2_Missense_Mutation_p.S71N|ESRRG_ENST00000487276.1_Missense_Mutation_p.S71N|ESRRG_ENST00000366937.1_Missense_Mutation_p.S99N|ESRRG_ENST00000361525.3_Missense_Mutation_p.S71N|ESRRG_ENST00000493748.1_Missense_Mutation_p.S71N|ESRRG_ENST00000366938.2_Missense_Mutation_p.S71N|ESRRG_ENST00000493603.1_Missense_Mutation_p.S71N|ESRRG_ENST00000360012.3_Missense_Mutation_p.S71N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	94					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GACAGGCCCACTACCTCCCAG	0.522000													25	120					0	0	0.003954	0	0
FUBP1	8880	broad.mit.edu	37	1	78433885	78433885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:78433885G>A	ENST00000370767.1	-	3	301	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q93*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q72*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	72					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATCTGGTTGATCTGCAAAA	0.294000			"""F, N"""		oligodendroglioma								7	33					0	0	0.001984	0	0
FSCN3	29999	broad.mit.edu	37	7	127240445	127240445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:127240445G>A	ENST00000265825.5	+	6	1708	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	FSCN3_ENST00000420086.2_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	497						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTATCTGGGAATTTTAGGT	0.547000													14	91					0	0	0.006122	0	0
CNGB1	1258	broad.mit.edu	37	16	57937785	57937785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:57937785G>A	ENST00000564448.1	-	27	2777	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	CNGB1_ENST00000251102.8_Missense_Mutation_p.S912F			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	912					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTTCTGCACGGACTTGGGGAT	0.582000													12	16					0	0	0.001855	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104269	142104269	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142104269G>A	ENST00000390379.1	-	0	195																											ACTGAGTAATGAATGCGCCTC	0.517000													42	221					0	0	0.003610	0	0
DISP1	84976	broad.mit.edu	37	1	223156451	223156451	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:223156451G>A	ENST00000284476.6	+	3	703	c.539_splice	c.e3+1	p.S180_splice	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	180					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCCAAAAAGGTAAAGTAAT	0.323000													147	351					0	0	0.003610	0	0
CADPS	8618	broad.mit.edu	37	3	62522183	62522183	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:62522183G>A	ENST00000383710.4	-	12	2389	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	CADPS_ENST00000357948.3_Silent_p.S680S|CADPS_ENST00000283269.9_Silent_p.S680S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	680					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTCAAAGAGGGAAGCGTGGT	0.393000													34	53					0	0	0.002836	0	0
RREB1	6239	broad.mit.edu	37	6	7231322	7231322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:7231322C>T	ENST00000379938.2	+	10	3527	c.2990C>T	c.(2989-2991)cCg>cTg	p.P997L	RREB1_ENST00000349384.6_Missense_Mutation_p.P997L|RREB1_ENST00000379933.3_Missense_Mutation_p.P997L|RREB1_ENST00000334984.6_Missense_Mutation_p.P997L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	997	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCCCTGCTCCGGCGGCCACC	0.687000													9	19					0	0	0.008291	0	0
INO80E	283899	broad.mit.edu	37	16	30008161	30008161	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30008161A>G	ENST00000563197.1	+	3	1202	c.185A>G	c.(184-186)aAc>aGc	p.N62S	INO80E_ENST00000304516.7_Missense_Mutation_p.N62S|INO80E_ENST00000567705.1_Missense_Mutation_p.N62S|INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000567254.1_Missense_Mutation_p.N62S	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	62					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CAGTACGAGAACGTGGATGAA	0.542000													18	62					0	0	0.003954	0	0
FAT1	2195	broad.mit.edu	37	4	187541983	187541983	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:187541983G>A	ENST00000441802.2	-	10	5966	c.5757C>T	c.(5755-5757)acC>acT	p.T1919T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1919	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T1922T(1)|p.T1919T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTGCCTTCGGTGATGGAGT	0.423000										HNSCC(5;0.00058)			25	42					0	0	0.003330	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669427	92669427	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:92669427C>T	ENST00000318445.6	+	6	1525	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.S437S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	437					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)			GCTACGTCTCCTTCCTCTTCC	0.592000													19	60					0	0	0.007413	0	0
ACAN	176	broad.mit.edu	37	15	89391246	89391246	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:89391246A>G	ENST00000439576.2	+	9	2083	c.1709A>G	c.(1708-1710)tAc>tGc	p.Y570C	ACAN_ENST00000559004.1_Missense_Mutation_p.Y570C|ACAN_ENST00000558207.1_Missense_Mutation_p.Y570C|ACAN_ENST00000352105.7_Missense_Mutation_p.Y570C|ACAN_ENST00000561243.1_Missense_Mutation_p.Y570C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	570					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACGATGTCTACTGCTTTGTA	0.587000													24	127					0	0	0.004656	0	0
COL22A1	169044	broad.mit.edu	37	8	139703075	139703075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:139703075G>A	ENST00000303045.6	-	36	3243	c.2797C>T	c.(2797-2799)Cca>Tca	p.P933S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P933S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	933	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACACTTCCTGGAGGGCCACTG	0.557000										HNSCC(7;0.00092)			8	22					0	0	0.004482	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944751	166944751	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:166944751G>A	ENST00000510118.1	-	5	682	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.A97A|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.A89A			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	89	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACCTTCATGGCGTAGAGCT	0.507000													51	41					0	0	0.003610	0	0
SPEN	23013	broad.mit.edu	37	1	16259522	16259522	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:16259522A>T	ENST00000375759.3	+	11	6991	c.6787A>T	c.(6787-6789)Atg>Ttg	p.M2263L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2263	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGGAAGGAATGGAGACAGA	0.572000													18	73					0	0	0.006122	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105363	75105363	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75105363T>C	ENST00000309664.5	+	1	307	c.168T>C	c.(166-168)caT>caC	p.H56H	LMAN1L_ENST00000379709.3_Silent_p.H56H	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	56	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTGGAGCCATCATGGAGGTG	0.607000													13	55					0	0	0.001368	0	0
IFT172	26160	broad.mit.edu	37	2	27700134	27700134	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:27700134A>G	ENST00000260570.3	-	13	1378	c.1275T>C	c.(1273-1275)aaT>aaC	p.N425N	IFT172_ENST00000416524.2_Silent_p.N404N|IFT172_ENST00000359466.6_Silent_p.N425N	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	425					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)					CCAGGGTGTCATTATTCCCAT	0.443000													65	115					0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40421287	40421287	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:40421287C>T	ENST00000221347.6	-	5	2641	c.2634G>A	c.(2632-2634)cgG>cgA	p.R878R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	878	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCGAAGCGCCGGCCGTCGA	0.667000													4	14					0	0	0.000602	0	0
PHF23	79142	broad.mit.edu	37	17	7140086	7140086	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7140086C>A	ENST00000320316.3	-	4	386	c.159_splice	c.e4-1	p.E54_splice	PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000454255.2_Splice_Site_p.E50_splice|PHF23_ENST00000571362.1_Intron	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	54							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CAGTCACTTTCCTTAAAAGGG	0.562000													5	55					1.23904e-05	2.09956e-05	0.000602	1	0
USH2A	7399	broad.mit.edu	37	1	215847853	215847853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:215847853G>A	ENST00000366943.2	-	63	13786	c.13400C>T	c.(13399-13401)cCa>cTa	p.P4467L	USH2A_ENST00000307340.3_Missense_Mutation_p.P4467L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4467	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4467Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGTTTCTTGGAGGTTTCCA	0.453000										HNSCC(13;0.011)			36	180					0	0	0.006230	0	0
TRIO	7204	broad.mit.edu	37	5	14271002	14271002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:14271002C>T	ENST00000344204.4	+	2	250	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	TRIO_ENST00000537187.1_Missense_Mutation_p.L76F|TRIO_ENST00000509967.2_Missense_Mutation_p.L27F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	76	CRAL-TRIO.				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)					AGTTGCATACCTTTCAGGTAA	0.343000													17	32					0	0	0.007413	0	0
COL7A1	1294	broad.mit.edu	37	3	48629225	48629225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48629225G>A	ENST00000328333.8	-	11	1495	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P463L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	463	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATCAGAGGGCAGTACCAC	0.632000													11	12					0	0	0.008291	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596343	58596343	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:58596343G>A	ENST00000240727.6	-	7	1641	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	ZSCAN18_ENST00000421612.2_Silent_p.A278A|ZSCAN18_ENST00000601144.1_Silent_p.A414A|ZSCAN18_ENST00000600404.1_Silent_p.A470A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	414					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTCGCCGCAGGCATAGGGCT	0.726000													5	9					0	0	0.000602	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761827	150761827	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150761827C>T	ENST00000485713.1	+	4	1472	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC4A2_ENST00000392826.2_Silent_p.S135S|SLC4A2_ENST00000310317.5_Silent_p.S62S|SLC4A2_ENST00000413384.2_Silent_p.S144S|SLC4A2_ENST00000461735.1_Silent_p.S130S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	144	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGCCGTCCCCTGTCTCCA	0.687000													5	76					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215972263	215972263	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:215972263T>A	ENST00000366943.2	-	50	10330	c.9944A>T	c.(9943-9945)tAc>tTc	p.Y3315F	USH2A_ENST00000307340.3_Missense_Mutation_p.Y3315F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3315					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGCGATTGTACACCACTCC	0.483000										HNSCC(13;0.011)			16	102					0	0	0.004990	0	0
SLX4	84464	broad.mit.edu	37	16	3632567	3632567	+	Missense_Mutation	SNP	G	G	A	rs143818824	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:3632567G>A	ENST00000294008.3	-	15	5921	c.5281C>T	c.(5281-5283)Cgc>Tgc	p.R1761C	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1761	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGCTTGGAGCGGATGTAGCAC	0.652000								Direct reversal of damage					17	38					0	0	0.004007	0	0
PODXL2	50512	broad.mit.edu	37	3	127379873	127379873	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127379873C>T	ENST00000342480.6	+	3	1041	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	334					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGCCTCTTCCCCACTGGCCC	0.587000													24	28					0	0	0.007291	0	0
CELF4	56853	broad.mit.edu	37	18	34850819	34850819	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:34850819C>T	ENST00000420428.2	-	8	1406	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	CELF4_ENST00000591287.1_Silent_p.G336G|CELF4_ENST00000361795.5_Silent_p.G335G|CELF4_ENST00000591282.1_Silent_p.G337G|CELF4_ENST00000334919.5_Silent_p.G327G|CELF4_ENST00000412753.1_Silent_p.G336G|CELF4_ENST00000601019.1_Silent_p.G335G|CELF4_ENST00000603232.1_Silent_p.G336G|CELF4_ENST00000588597.1_Silent_p.G326G	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	337					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGCCATTCACCCCAATGGGGG	0.632000													9	18					0	0	0.004482	0	0
CUL9	23113	broad.mit.edu	37	6	43171673	43171673	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:43171673G>A	ENST00000252050.4	+	20	4191	c.4107G>A	c.(4105-4107)aaG>aaA	p.K1369K	CUL9_ENST00000372647.2_Silent_p.K1369K|CUL9_ENST00000354495.3_Silent_p.K1259K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1369					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CACTGGGCAAGACCTGCTGGG	0.577000													32	64					0	0	0.008361	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576476	158576476	+	Missense_Mutation	SNP	C	C	T	rs144307016		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:158576476C>T	ENST00000361284.1	+	1	248	c.248C>T	c.(247-249)tCt>tTt	p.S83F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGAATGCTCTCTGGCCTGGCT	0.547000													211	59					0	0	0.003610	0	0
WDR12	55759	broad.mit.edu	37	2	203765755	203765755	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:203765755A>G	ENST00000261015.3	-	3	973	c.224T>C	c.(223-225)aTc>aCc	p.I75T	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	75			I -> V (in dbSNP:rs35212307).		cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TACTGATGAGATGTTCTCCAT	0.373000													15	379					0	0	0.004007	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571908	30571908	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:30571908A>G	ENST00000376511.2	-	14	1937	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	462	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCGGGGGCACACCCAGGGCAC	0.577000													23	177					0	0	0.007291	0	0
SPAG5	10615	broad.mit.edu	37	17	26918858	26918858	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:26918858T>C	ENST00000321765.5	-	4	1627	c.1295A>G	c.(1294-1296)cAt>cGt	p.H432R		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	432					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCCAAGTCATGTCGAGACAA	0.557000													25	39					0	0	0.005443	0	0
TAF6L	10629	broad.mit.edu	37	11	62554746	62554746	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:62554746A>G	ENST00000294168.3	+	11	2048	c.1847A>G	c.(1846-1848)tAc>tGc	p.Y616C	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	616					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTCTCGGACTACTCGCTGTAC	0.667000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	46					0	0	0.001368	0	0
SRRM2	23524	broad.mit.edu	37	16	2816259	2816259	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:2816259A>G	ENST00000301740.8	+	11	6279	c.5730A>G	c.(5728-5730)agA>agG	p.R1910R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1910	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCGACGAAGATCCCGGTCAA	0.582000													14	48					0	0	0.004007	0	0
SALL4	57167	broad.mit.edu	37	20	50407061	50407061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:50407061G>A	ENST00000217086.4	-	2	2072	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	654					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCGTGTTGGGAATCTGACC	0.547000													25	34					0	0	0.008361	0	0
POLQ	10721	broad.mit.edu	37	3	121263622	121263622	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:121263622A>G	ENST00000264233.5	-	2	423	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	99					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGCAAAAGGCACTCTGCCTGC	0.348000								DNA polymerases (catalytic subunits)					21	43					0	0	0.002780	0	0
WNT9B	7484	broad.mit.edu	37	17	44952552	44952552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:44952552G>A	ENST00000393461.2	+	3	473	c.420G>A	c.(418-420)atG>atA	p.M140I	WNT9B_ENST00000290015.2_Missense_Mutation_p.M140I			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	140					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGGGCGCATGGAGCGCTGCA	0.657000													42	73					0	0	0.008740	0	0
ATG2A	23130	broad.mit.edu	37	11	64673911	64673911	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:64673911T>C	ENST00000421419.2	-	21	3192	c.3078A>G	c.(3076-3078)gaA>gaG	p.E1026E	ATG2A_ENST00000377264.3_Silent_p.E1026E			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1026							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGGTCACCCCTTCCTCCGATG	0.682000													7	35					0	0	0.003080	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317948	154317948	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154317948A>G	ENST00000368489.3	+	23	2720	c.2720A>G	c.(2719-2721)tAt>tGt	p.Y907C		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	893					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y907C(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCTTTGCTATTTCTTCTAC	0.498000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	388					0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455222	70455222	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:70455222G>A	ENST00000503640.1	-	6	1507	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	UGT2A2_ENST00000457664.2_Silent_p.F493F|UGT2A1_ENST00000514019.1_Silent_p.F650F|UGT2A1_ENST00000286604.4_Silent_p.F484F|UGT2A1_ENST00000512704.1_Silent_p.F440F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	484					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTGGTACTGGAACCAGGTGA	0.473000													56	62					0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50531444	50531444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:50531444C>T	ENST00000374144.3	+	3	1142	c.854C>T	c.(853-855)cCa>cTa	p.P285L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P285L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	285								p.P285Q(2)		endometrium(1)	1						GCCCACCAACCAAAGCTGCTG	0.532000													12	8					0	0	0.000978	0	0
FNIP2	57600	broad.mit.edu	37	4	159772500	159772500	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:159772500C>A	ENST00000264433.6	+	8	830	c.755C>A	c.(754-756)cCt>cAt	p.P252H	FNIP2_ENST00000379346.3_Missense_Mutation_p.P275H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	252	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTGATCACACCTTTCCCATCT	0.433000													8	481					6.40141e-05	0.000107788	0.000978	1	0
MYH13	8735	broad.mit.edu	37	17	10209911	10209911	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:10209911C>T	ENST00000418404.3	-	36	5494	c.5331G>A	c.(5329-5331)caG>caA	p.Q1777Q	MYH13_ENST00000570743.1_Silent_p.Q1777Q|MYH13_ENST00000252172.4_Silent_p.Q1777Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1777					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGCTGGTGTCCTGTTCCTTCT	0.577000													42	74					0	0	0.002522	0	0
TERT	7015	broad.mit.edu	37	5	1264604	1264604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:1264604C>T	ENST00000310581.5	-	11	2815	c.2758G>A	c.(2758-2760)Gtt>Att	p.V920I	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	920	Required for oligomerization.|Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCTGAACAAAAGCCGTG	0.632000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				11	46					0	0	0.000978	0	0
DST	667	broad.mit.edu	37	6	56510976	56510976	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:56510976A>G	ENST00000370754.5	-	13	1459	c.1460T>C	c.(1459-1461)cTt>cCt	p.L487P	DST_ENST00000361203.3_Missense_Mutation_p.L309P|DST_ENST00000370788.2_Missense_Mutation_p.L309P|DST_ENST00000370769.4_Missense_Mutation_p.L309P|DST_ENST00000421834.2_Missense_Mutation_p.L309P|DST_ENST00000312431.6_Missense_Mutation_p.L309P			Q03001	DYST_HUMAN	dystonin	309					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGATTATAAAGTGCCTAAAA	0.299000													3	8					0	0	0.004672	0	0
SLFN12	55106	broad.mit.edu	37	17	33749398	33749398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:33749398C>T	ENST00000394562.1	-	4	1173	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	SLFN12_ENST00000304905.5_Missense_Mutation_p.R217Q|SLFN12_ENST00000452764.3_Missense_Mutation_p.R217Q			Q8IYM2	SLN12_HUMAN	schlafen family member 12	217							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTTTAATTCGTTGTAACAA	0.303000													42	85					0	0	0.003214	0	0
CTIF	9811	broad.mit.edu	37	18	46284513	46284513	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:46284513A>G	ENST00000256413.3	+	8	1103	c.808A>G	c.(808-810)Aat>Gat	p.N270D	CTIF_ENST00000382998.4_Missense_Mutation_p.N270D	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	270	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CGCACACCGCAATGCCAAAGA	0.642000													15	21					0	0	0.004990	0	0
OPALIN	93377	broad.mit.edu	37	10	98109573	98109573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:98109573G>A	ENST00000419479.1	-	5	560	c.53C>T	c.(52-54)cCc>cTc	p.P18L	OPALIN_ENST00000371172.3_Missense_Mutation_p.P28L|OPALIN_ENST00000536387.1_Missense_Mutation_p.P18L|OPALIN_ENST00000393871.1_Missense_Mutation_p.P5L|OPALIN_ENST00000393870.2_Missense_Mutation_p.P17L	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	28						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCCAAGAGAGGGCCCACAGTC	0.438000													16	10					0	0	0.008871	0	0
RHO	6010	broad.mit.edu	37	3	129247597	129247597	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129247597T>C	ENST00000296271.3	+	1	115	c.21T>C	c.(19-21)ccT>ccC	p.P7P		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	7					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAGAAGGCCCTAACTTCTACG	0.607000													10	34					0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	41400105	41400105	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:41400105C>T	ENST00000373198.3	-	5	889	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PTPRT_ENST00000356100.2_Silent_p.K218K|PTPRT_ENST00000373201.1_Silent_p.K218K|PTPRT_ENST00000373187.1_Silent_p.K218K|PTPRT_ENST00000373193.3_Silent_p.K218K|PTPRT_ENST00000373190.1_Silent_p.K218K|PTPRT_ENST00000373184.1_Silent_p.K218K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	218	Ig-like C2-type.		K -> T (in a gastric cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTGAGACCACTTCCCACCAG	0.493000													58	125					0	0	0.003610	0	0
NOL7	51406	broad.mit.edu	37	6	13616734	13616734	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:13616734A>G	ENST00000451315.2	+	3	399	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	AL441883.1_ENST00000600057.1_3'UTR|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	123						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GGAGAAGTTAACCACAGCTTC	0.308000													13	111					0	0	0.004990	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487532	21487532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:21487532G>A	ENST00000307378.6	-	3	770	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S17F|SLCO1A2_ENST00000390670.3_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	17					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CTTCAACTTGGAAAGACATCT	0.348000													25	66					0	0	0.007291	0	0
DCAF5	8816	broad.mit.edu	37	14	69521377	69521377	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:69521377T>C	ENST00000341516.5	-	9	2173	c.2026A>G	c.(2026-2028)Aat>Gat	p.N676D	DCAF5_ENST00000557386.1_Missense_Mutation_p.N675D|DCAF5_ENST00000556847.1_Missense_Mutation_p.N594D|DCAF5_ENST00000554215.1_Missense_Mutation_p.N594D	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	676						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCTTTGTTATTTGAGTAGGAG	0.478000													21	99					0	0	0.002299	0	0
ADAD1	132612	broad.mit.edu	37	4	123317411	123317411	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:123317411G>A	ENST00000296513.2	+	7	788	c.603G>A	c.(601-603)ggG>ggA	p.G201G	ADAD1_ENST00000388724.2_Silent_p.G201G|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Silent_p.G183G	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	201					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTAGAAGGGAGACATATTC	0.279000													7	45					0	0	0.003080	0	0
PTPRB	5787	broad.mit.edu	37	12	70928401	70928401	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:70928401G>C	ENST00000334414.6	-	31	6279	c.6235C>G	c.(6235-6237)Cgc>Ggc	p.R2079G	PTPRB_ENST00000550358.1_Missense_Mutation_p.R1991G|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1771G|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1771G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1771G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1861G|RP11-588H23.3_ENST00000546836.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1861					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAAGTGGCGGATGAGTCTG	0.493000													8	15					0	0	0.004482	0	0
CACNA1G	8913	broad.mit.edu	37	17	48681523	48681523	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:48681523A>G	ENST00000352832.5	+	21	4480	c.4108A>G	c.(4108-4110)Agc>Ggc	p.S1370G	CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1393G|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1393G|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1370G|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1370G|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1370G|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1393G|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1393G|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1393G|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1370G|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1393G|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1370G|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1370G|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1370G	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1393					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGGTGATCAGCCGGGCGCA	0.602000													6	32					0	0	0.001168	0	0
OAS3	4940	broad.mit.edu	37	12	113405854	113405854	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:113405854G>A	ENST00000228928.7	+	14	3158	c.2979G>A	c.(2977-2979)gaG>gaA	p.E993E	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	993	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACATGGCTGAGGGCTTCCGCA	0.602000													17	48					0	0	0.004990	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967853	76967853	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:76967853T>C	ENST00000262776.3	-	6	1871	c.1563A>G	c.(1561-1563)aaA>aaG	p.K521K	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	521					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCATCAGGGCTTTGTTTTCGT	0.602000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	40					0	0	0.004482	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996058	57996058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:57996058G>A	ENST00000316770.2	-	1	332	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCAGCCAACGAAATGGGCTT	0.522000													13	12					0	0	0.001855	0	0
LIPI	149998	broad.mit.edu	37	21	15561379	15561379	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:15561379C>T	ENST00000344577.2	-	2	496	c.471G>A	c.(469-471)ttG>ttA	p.L157L	LIPI_ENST00000536861.1_Silent_p.L136L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	136					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCACACTCAAACTCACAG	0.323000													21	51					0	0	0.001523	0	0
GFI1B	8328	broad.mit.edu	37	9	135864497	135864497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:135864497G>A	ENST00000339463.3	+	9	1379	c.560G>A	c.(559-561)aGt>aAt	p.S187N	GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000450530.1_Missense_Mutation_p.S187N|GFI1B_ENST00000372122.1_Missense_Mutation_p.S187N|GFI1B_ENST00000372123.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	187	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CGCTCCCATAGTGGGACCCGG	0.667000													4	24					0	0	0.000248	0	0
MCPH1	79648	broad.mit.edu	37	8	6479203	6479203	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:6479203T>C	ENST00000344683.5	+	13	2519	c.2443T>C	c.(2443-2445)Tgg>Cgg	p.W815R	CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	815	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTCTGAGAAATGGGTCTTAGG	0.597000													23	29					0	0	0.005443	0	0
TBCE	6905	broad.mit.edu	37	1	235543432	235543432	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:235543432T>A	ENST00000543662.1	+	2	174	c.68T>A	c.(67-69)gTa>gAa	p.V23E	TBCE_ENST00000406207.1_Missense_Mutation_p.V23E|TBCE_ENST00000366601.3_Missense_Mutation_p.V23E|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	23					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CATGCAACAGTACGTTTTGCT	0.423000													5	107					0	0	0.001168	0	0
POTEG	404785	broad.mit.edu	37	14	19553825	19553825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:19553825C>T	ENST00000409832.3	+	1	461	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	137										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACGTCCGTCGAGAAGATCT	0.577000													16	155					0	0	0.003954	0	0
C19orf26	255057	broad.mit.edu	37	19	1230911	1230911	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1230911T>C	ENST00000590083.1	-	9	1635	c.1343A>G	c.(1342-1344)aAg>aGg	p.K448R	C19orf26_ENST00000215376.6_Missense_Mutation_p.K442R|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	267						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCCCTGCTTCCCTCCTCT	0.701000										HNSCC(14;0.022)			5	49					0	0	0.001984	0	0
PTPN12	5782	broad.mit.edu	37	7	77261684	77261684	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:77261684T>C	ENST00000248594.6	+	14	2288	c.2016T>C	c.(2014-2016)gaT>gaC	p.D672D	PTPN12_ENST00000435495.2_Silent_p.D542D|PTPN12_ENST00000415482.2_Silent_p.D553D	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	672						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTAGTGAAGATTCACCTCCTC	0.313000													22	238					0	0	0.002299	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192851	132192851	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192851C>G	ENST00000359827.3	-	2	1564	c.602G>C	c.(601-603)aGc>aCc	p.S201T	PLXNA4_ENST00000423507.2_Missense_Mutation_p.S201T|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S201T|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S201T			Q9HCM2	PLXA4_HUMAN	plexin A4	201	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGTTTCCGGCTGGAGATGGT	0.527000													14	207					0	0	0.008871	0	0
COL4A1	1282	broad.mit.edu	37	13	110823073	110823073	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:110823073T>C	ENST00000375820.4	-	42	3684	c.3563A>G	c.(3562-3564)aAg>aGg	p.K1188R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1188	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACCTCACCCTTTGAACCTGA	0.567000													13	44					0	0	0.003163	0	0
ANO7	50636	broad.mit.edu	37	2	242135225	242135225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:242135225G>A	ENST00000274979.8	+	4	539	c.436G>A	c.(436-438)Gat>Aat	p.D146N	ANO7_ENST00000402530.3_Missense_Mutation_p.D145N|ANO7_ENST00000402430.3_Missense_Mutation_p.D145N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	146						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACTTTTCTGGATAATCTTCG	0.607000													21	41					0	0	0.002780	0	0
PML	5371	broad.mit.edu	37	15	74327980	74327980	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:74327980A>G	ENST00000268059.6	+	8	2274	c.2178A>G	c.(2176-2178)cgA>cgG	p.R726R	PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Silent_p.R678R|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACCGGATACGAGGGGCTGTGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	85					0	0	0.008291	0	0
MARK3	4140	broad.mit.edu	37	14	103969227	103969227	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:103969227T>C	ENST00000429436.2	+	18	2435	c.1925T>C	c.(1924-1926)gTa>gCa	p.V642A	MARK3_ENST00000553942.1_Missense_Mutation_p.V633A|MARK3_ENST00000440884.3_Missense_Mutation_p.V548A|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.V618A|MARK3_ENST00000216288.7_Missense_Mutation_p.V602A|MARK3_ENST00000416682.2_Missense_Mutation_p.V641A|MARK3_ENST00000335102.5_Missense_Mutation_p.V665A	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	642							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTCGCAATGTATCTGCTGAG	0.423000													4	33					0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	153026508	153026508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:153026508G>A	ENST00000285900.5	+	3	584	c.241G>A	c.(241-243)Gga>Aga	p.G81R	GRIA1_ENST00000340592.5_Missense_Mutation_p.G81R|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.G91R|GRIA1_ENST00000518783.1_Missense_Mutation_p.G91R|GRIA1_ENST00000521843.2_Missense_Mutation_p.G12R|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	81					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTCTCCAAAGGAGTCTATGC	0.453000													29	40					0	0	0.001786	0	0
UBAP2	55833	broad.mit.edu	37	9	33923820	33923820	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:33923820A>T	ENST00000379238.1	-	24	2886	c.2769T>A	c.(2767-2769)agT>agA	p.S923R	UBAP2_ENST00000539807.1_Missense_Mutation_p.S678R|UBAP2_ENST00000360802.1_Missense_Mutation_p.S923R|UBAP2_ENST00000449054.1_Missense_Mutation_p.S923R|UBAP2_ENST00000379239.4_Missense_Mutation_p.S656R|UBAP2_ENST00000379235.1_Missense_Mutation_p.S162R			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	923										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGGAAGGCACTGGGCATGC	0.557000													5	80					0	0	0.000602	0	0
FUT5	2527	broad.mit.edu	37	19	5867711	5867711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5867711G>A	ENST00000252675.5	-	5	588	c.26C>T	c.(25-27)cCa>cTa	p.P9L	AC024592.12_ENST00000586349.1_Missense_Mutation_p.H141Y|FUT5_ENST00000588525.1_Missense_Mutation_p.P9L			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGCCACTGTGGCTTGGCTGG	0.607000													9	28					0	0	0.004482	0	0
MDN1	23195	broad.mit.edu	37	6	90411652	90411652	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:90411652G>A	ENST00000369393.3	-	54	8392	c.8277C>T	c.(8275-8277)atC>atT	p.I2759I	MDN1_ENST00000428876.1_Silent_p.I2759I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2759					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAGTCGGGGGATCTGGTGGA	0.428000													25	40					0	0	0.003330	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965712	127965712	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127965712T>C	ENST00000254730.6	+	2	404	c.350T>C	c.(349-351)aTc>aCc	p.I117T	EEFSEC_ENST00000483457.1_Missense_Mutation_p.I117T	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	117						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ATGCTGGTCATCGATGTGACC	0.522000													29	184					0	0	0.007291	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876438	53876438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53876438C>T	ENST00000267079.2	-	12	2275	c.2050G>A	c.(2050-2052)Ggg>Agg	p.G684R	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717R|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	684					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTGAGGTCCCTTCCCTTCCA	0.637000													36	79					0	0	0.002522	0	0
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:137693829C>T	ENST00000371817.3	+	38	3396	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657000													14	53					0	0	0.004007	0	0
ESYT2	57488	broad.mit.edu	37	7	158528224	158528224	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:158528224G>A	ENST00000251527.5	-	20	2621	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	ESYT2_ENST00000435514.2_Silent_p.F287F	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	880	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTTGGACAGGAAGCCGCCAC	0.473000													141	153					0	0	0.003610	0	0
FOLH1	2346	broad.mit.edu	37	11	49179526	49179526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:49179526G>A	ENST00000340334.7	-	15	1833	c.1465C>T	c.(1465-1467)Cca>Tca	p.P489S	FOLH1_ENST00000256999.2_Missense_Mutation_p.P504S|FOLH1_ENST00000356696.3_Missense_Mutation_p.P504S|FOLH1_ENST00000533034.1_Missense_Mutation_p.P489S|FOLH1_ENST00000343844.4_Missense_Mutation_p.P196S	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	504	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGAACTCTGGGGAAGGACTT	0.353000													26	33					0	0	0.002445	0	0
IDH3G	3421	broad.mit.edu	37	X	153055231	153055231	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:153055231A>G	ENST00000370092.3	-	5	467	c.282T>C	c.(280-282)aaT>aaC	p.N94N	IDH3G_ENST00000370093.1_Silent_p.N94N|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.N94N|IDH3G_ENST00000427365.2_Silent_p.N36N	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	94					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CTTCATCAGCATTGGAACTCA	0.642000													5	14					0	0	0.001168	0	0
SYNE3	161176	broad.mit.edu	37	14	95906000	95906000	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:95906000T>C	ENST00000334258.5	-	12	2209	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	SYNE3_ENST00000554873.1_Missense_Mutation_p.E489G|SYNE3_ENST00000557275.1_Missense_Mutation_p.E732G	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTCTGCCAGCTCCCTGAGCTC	0.637000													11	42					0	0	0.001855	0	0
KRT72	140807	broad.mit.edu	37	12	52985259	52985259	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52985259A>T	ENST00000293745.2	-	5	1037	c.952T>A	c.(952-954)Tac>Aac	p.Y318N	KRT72_ENST00000398066.3_Missense_Mutation_p.Y130N|KRT72_ENST00000354310.4_Missense_Mutation_p.Y318N|KRT72_ENST00000537672.2_Missense_Mutation_p.Y318N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	318	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGGTCTGGTACAGGGTCTCA	0.582000													6	25					0	0	0.001984	0	0
TENM4	26011	broad.mit.edu	37	11	78412975	78412975	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:78412975C>T	ENST00000278550.7	-	28	5145	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCCGGATAAACCGAATTCGGA	0.493000													16	50					0	0	0.007413	0	0
RBM23	55147	broad.mit.edu	37	14	23374168	23374168	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23374168A>G	ENST00000359890.3	-	9	975	c.780T>C	c.(778-780)ggT>ggC	p.G260G	RBM23_ENST00000555209.1_Silent_p.G10G|RBM23_ENST00000399922.2_Silent_p.G244G|RBM23_ENST00000542016.2_Silent_p.G90G|RBM23_ENST00000346528.5_Silent_p.G226G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	260					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCATTGGTCCACCATTGCCCT	0.527000													26	147					0	0	0.002096	0	0
CAMTA2	23125	broad.mit.edu	37	17	4880474	4880474	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:4880474C>T	ENST00000361571.5	-	10	2187	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	CAMTA2_ENST00000348066.3_Silent_p.G593G|CAMTA2_ENST00000572543.1_Silent_p.G598G|CAMTA2_ENST00000414043.3_Silent_p.G616G|CAMTA2_ENST00000358183.4_Silent_p.G593G|CAMTA2_ENST00000381311.5_Silent_p.G595G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	593	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGACACCAGCCCTACCTCAT	0.567000													14	63					0	0	0.002450	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18769241	18769241	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:18769241T>C	ENST00000268835.2	+	3	378	c.95T>C	c.(94-96)aTg>aCg	p.M32T	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.M32T|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.M32T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	32					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCATCATGTATGGAGCTATCA	0.328000													6	23					0	0	0.001168	0	0
TMC5	79838	broad.mit.edu	37	16	19468184	19468184	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:19468184G>A	ENST00000219821.5	+	1	413	c.156G>A	c.(154-156)gtG>gtA	p.V52V	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACATTGATGTGATAGACTCTC	0.433000													15	20					0	0	0.002450	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771687	90771687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:90771687G>A	ENST00000411539.2	+	14	2586	c.2326G>A	c.(2326-2328)Ggg>Agg	p.G776R	SEMA4B_ENST00000332496.6_Missense_Mutation_p.G776R|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAACGGCCTAGGGCCCCCTAG	0.647000													3	14					0	0	0.000248	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406302	38406302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:38406302G>A	ENST00000322350.5	+	7	1133	c.787G>A	c.(787-789)Gga>Aga	p.G263R	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G29R|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G263R|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	263						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGATGATGAAGGATTTGAAGA	0.478000													11	58					0	0	0.001368	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122395	36122395	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:36122395A>T	ENST00000296603.4	-	9	1569	c.1107T>A	c.(1105-1107)taT>taA	p.Y369*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	369						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGTAGGATTATAAAAATATT	0.294000													17	30					0	0	0.004990	0	0
ZNF669	79862	broad.mit.edu	37	1	247264023	247264023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:247264023G>A	ENST00000343381.6	-	4	1220	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.R264C	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CCATGGTAACGAAGGGAAGTG	0.408000													22	162					0	0	0.002780	0	0
NUAK2	81788	broad.mit.edu	37	1	205273082	205273082	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:205273082G>A	ENST00000367157.3	-	7	1509	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	461					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTCGGGAGAGGAGTAGTAGC	0.637000													4	23					0	0	0.000248	0	0
EMR1	2015	broad.mit.edu	37	19	6913831	6913831	+	Silent	SNP	G	G	A	rs141986863	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:6913831G>A	ENST00000312053.4	+	11	1327	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	EMR1_ENST00000381407.5_Silent_p.T289T|EMR1_ENST00000381404.4_Silent_p.T378T|EMR1_ENST00000250572.8_Silent_p.T430T|EMR1_ENST00000450315.3_Silent_p.T253T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	430	Ser/Thr-rich.			T -> A (in Ref. 1; CAA57232).	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGTTCGGACGGAATACTTAG	0.502000													16	95					0	0	0.008871	0	0
PPL	5493	broad.mit.edu	37	16	4933858	4933858	+	Missense_Mutation	SNP	T	T	C	rs111733714		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:4933858T>C	ENST00000345988.2	-	22	4887	c.4798A>G	c.(4798-4800)Acc>Gcc	p.T1600A	PPL_ENST00000590782.2_Missense_Mutation_p.T1598A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1600					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCGCCACGGTCATGTTCCGC	0.557000													20	69					0	0	0.001882	0	0
PLEC	5339	broad.mit.edu	37	8	145007491	145007491	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145007491A>G	ENST00000322810.4	-	13	1872	c.1703T>C	c.(1702-1704)gTg>gCg	p.V568A	PLEC_ENST00000354958.2_Missense_Mutation_p.V409A|PLEC_ENST00000345136.3_Missense_Mutation_p.V431A|PLEC_ENST00000398774.2_Missense_Mutation_p.V399A|PLEC_ENST00000354589.3_Missense_Mutation_p.V431A|PLEC_ENST00000357649.2_Missense_Mutation_p.V435A|PLEC_ENST00000436759.2_Missense_Mutation_p.V458A|PLEC_ENST00000527096.1_Missense_Mutation_p.V454A|PLEC_ENST00000356346.3_Missense_Mutation_p.V417A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	568	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						CCGCTGTGGCACTTTGCCTGC	0.642000													14	76					0	0	0.004990	0	0
KIF2C	11004	broad.mit.edu	37	1	45232824	45232824	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:45232824A>G	ENST00000372217.1	+	20	2340	c.1989A>G	c.(1987-1989)caA>caG	p.Q663Q	KIF2C_ENST00000372222.3_Silent_p.Q604Q|KIF2C_ENST00000372218.4_Silent_p.Q676Q|KIF2C_ENST00000372224.4_Silent_p.Q717Q|RP11-269F19.2_ENST00000428791.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	717					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTAGCAGACAAATAAGCAGCA	0.522000													16	40					0	0	0.004990	0	0
MAPT	4137	broad.mit.edu	37	17	44096042	44096042	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:44096042G>A	ENST00000344290.5	+	14	2383	c.2061G>A	c.(2059-2061)tcG>tcA	p.S687S	MAPT_ENST00000415613.2_Silent_p.S687S|MAPT_ENST00000576518.1_Silent_p.S252S|MAPT_ENST00000420682.2_Silent_p.S323S|MAPT_ENST00000574436.1_Silent_p.S352S|MAPT_ENST00000340799.5_Silent_p.S323S|MAPT_ENST00000347967.5_Silent_p.S227S|MAPT_ENST00000571987.1_Silent_p.S669S|MAPT_ENST00000351559.5_Silent_p.S352S|MAPT_ENST00000334239.8_Silent_p.S263S|MAPT_ENST00000262410.5_Silent_p.S669S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Silent_p.S321S|MAPT_ENST00000446361.3_Silent_p.S294S|MAPT_ENST00000431008.3_Silent_p.S321S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	669		Not glycated.			cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGTCCAGTCGAAGATTGGGT	0.507000													54	105					0	0	0.003610	0	0
SAE1	10055	broad.mit.edu	37	19	47656285	47656285	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:47656285A>G	ENST00000413379.3	+	4	617	c.515A>G	c.(514-516)cAt>cGt	p.H172R	SAE1_ENST00000540850.1_Intron|SAE1_ENST00000392776.3_Missense_Mutation_p.H172R|SAE1_ENST00000270225.7_Missense_Mutation_p.H172R|SAE1_ENST00000598840.1_Intron	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	172					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CTAGGAGAGCATGAGTTTGTA	0.333000													16	118					0	0	0.008871	0	0
ACSM5	54988	broad.mit.edu	37	16	20451162	20451162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:20451162C>T	ENST00000331849.4	+	13	1724	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	526					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCTACTCCTCTCATGACCCA	0.468000													33	56					0	0	0.007835	0	0
NOP9	161424	broad.mit.edu	37	14	24772344	24772344	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24772344G>T	ENST00000267425.3	+	6	1301	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	NOP9_ENST00000396802.3_Missense_Mutation_p.G403V	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		GGCCACCCAGGGGTAGTCATT	0.557000													6	76					0.00116845	0.00195718	0.001168	1	0
PARP6	56965	broad.mit.edu	37	15	72545814	72545814	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:72545814T>C	ENST00000569795.1	-	16	1910	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	PARP6_ENST00000287196.9_Missense_Mutation_p.D408G|PARP6_ENST00000260376.7_Missense_Mutation_p.D408G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	408	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ATCCAACTTGTCCATCTGTTT	0.488000													11	40					0	0	0.000978	0	0
HLTF	6596	broad.mit.edu	37	3	148756980	148756980	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:148756980G>A	ENST00000310053.5	-	23	2845	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	HLTF_ENST00000494055.1_Silent_p.S884S|HLTF_ENST00000392912.2_Silent_p.S884S|HLTF_ENST00000465259.1_Silent_p.S883S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	884	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTGGGCCATGGAACCATCCA	0.363000													12	32					0	0	0.000978	0	0
DAG1	1605	broad.mit.edu	37	3	49570436	49570436	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:49570436A>G	ENST00000545947.1	+	6	3214	c.2492A>G	c.(2491-2493)tAc>tGc	p.Y831C	DAG1_ENST00000538711.1_Missense_Mutation_p.Y831C|DAG1_ENST00000515359.2_Missense_Mutation_p.Y831C|DAG1_ENST00000539901.1_Missense_Mutation_p.Y831C|DAG1_ENST00000308775.2_Missense_Mutation_p.Y831C|DAG1_ENST00000541308.1_Missense_Mutation_p.Y831C	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	831	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTCCTGAGTACCCCAACCAG	0.607000													6	20					0	0	0.001168	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877845	38877845	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:38877845A>T	ENST00000339659.3	+	9	2942	c.1472A>T	c.(1471-1473)gAg>gTg	p.E491V	DYRK1A_ENST00000338785.3_Missense_Mutation_p.E500V|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E500V|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E500V|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E272V|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E500V|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E500V	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	500					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCGCCATGGAGCAGTCTCAG	0.448000													17	136					0	0	0.002299	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747058	167747058	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:167747058T>G	ENST00000470487.1	-	11	2155	c.1466A>C	c.(1465-1467)gAt>gCt	p.D489A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.D461A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	489	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGAACGATATCATTATCCAT	0.408000													17	49					0	0	0.004007	0	0
SSPO	23145	broad.mit.edu	37	7	149500562	149500562	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:149500562G>A	ENST00000378016.2	+	0	7963							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATACTCCCAGGATGCCGCTG	0.677000													26	26					0	0	0.007291	0	0
FANCB	2187	broad.mit.edu	37	X	14871185	14871185	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:14871185A>G	ENST00000398334.1	-	6	1569	c.1302T>C	c.(1300-1302)gaT>gaC	p.D434D	FANCB_ENST00000324138.3_Silent_p.D434D	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	434					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACGTATTATCATCTTTTCCTT	0.289000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	65					0	0	0.001984	0	0
FNDC3A	22862	broad.mit.edu	37	13	49742751	49742751	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:49742751T>C	ENST00000492622.2	+	10	1345	c.1040T>C	c.(1039-1041)gTc>gCc	p.V347A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V291A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V347A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	347	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CACCATAGAGTCCAGGCAGAA	0.383000													8	52					0	0	0.004482	0	0
TLR5	7100	broad.mit.edu	37	1	223286155	223286155	+	Silent	SNP	C	C	T	rs148506161	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:223286155C>T	ENST00000540964.1	-	4	680	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TLR5_ENST00000342210.6_Silent_p.Q73Q			O60602	TLR5_HUMAN	toll-like receptor 5	73					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCTCCAGCAGCTGCAGCTGTT	0.532000													38	88					0	0	0.005524	0	0
CCT3	7203	broad.mit.edu	37	1	156281870	156281870	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:156281870T>C	ENST00000295688.3	-	11	1397	c.1117A>G	c.(1117-1119)Acc>Gcc	p.T373A	CCT3_ENST00000472765.2_Missense_Mutation_p.T328A|CCT3_ENST00000368261.3_Missense_Mutation_p.T328A|CCT3_ENST00000368259.2_Missense_Mutation_p.T335A	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	373					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGGAGAATGGTGCAGGCCTTG	0.468000													27	51					0	0	0.003755	0	0
FER1L6	654463	broad.mit.edu	37	8	125115442	125115442	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:125115442C>T	ENST00000522917.1	+	39	5387	c.5181C>T	c.(5179-5181)gcC>gcT	p.A1727A	FER1L6_ENST00000399018.1_Silent_p.A1727A|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1727						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCCAAAGCCTGTGATCTTG	0.458000													77	221					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38945409	38945409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38945409C>T	ENST00000450244.1	-	12	1987	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E597K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E597K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E597K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	597					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGTGATGCTCCATGGCCAAG	0.393000													23	54					0	0	0.002299	0	0
DONSON	29980	broad.mit.edu	37	21	34951723	34951723	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:34951723A>G	ENST00000303071.5	-	9	1562	c.1496T>C	c.(1495-1497)gTa>gCa	p.V499A	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.V485A|DONSON_ENST00000453626.1_Splice_Site_p.Y451_splice	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	499					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGGATACAGTACTGCAGAGAA	0.423000													19	70					0	0	0.001523	0	0
ANO3	63982	broad.mit.edu	37	11	26655803	26655803	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26655803C>T	ENST00000256737.3	+	19	2778	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	ANO3_ENST00000537978.1_Silent_p.F626F|ANO3_ENST00000531568.1_Silent_p.F496F|ANO3_ENST00000525139.1_Silent_p.F626F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	642						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGAAGATGTTCCTCTTCCAGT	0.393000													9	13					0	0	0.008291	0	0
WNT7A	7476	broad.mit.edu	37	3	13916496	13916496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:13916496C>T	ENST00000285018.4	-	2	550	c.246G>A	c.(244-246)tgG>tgA	p.W82*	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	82					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						CAGAGCAGTTCCAGCGGCCAT	0.602000													16	32					0	0	0.006122	0	0
TRH	7200	broad.mit.edu	37	3	129695598	129695598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129695598G>A	ENST00000302649.3	+	3	795	c.268G>A	c.(268-270)Gag>Aag	p.E90K	TRH_ENST00000507066.1_Missense_Mutation_p.E86K	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	90					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						AGGCAAAAGAgaggaggagga	0.577000													19	47					0	0	0.006122	0	0
TCF15	6939	broad.mit.edu	37	20	590585	590585	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:590585G>C	ENST00000246080.3	-	1	457	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	99	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				GCTCGGTGGGGATGAGCGTGC	0.706000													3	10					0	0	0.000248	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	149					0	0	0.000602	0	0
APBB1	322	broad.mit.edu	37	11	6425049	6425049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:6425049G>A	ENST00000389906.2	-	3	824	c.725C>T	c.(724-726)tCc>tTc	p.S242F	APBB1_ENST00000533407.1_5'UTR|APBB1_ENST00000530885.1_Missense_Mutation_p.S22F|APBB1_ENST00000311051.3_Missense_Mutation_p.S242F|APBB1_ENST00000299402.6_Missense_Mutation_p.S242F	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	242					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.S242F(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTTCCAGAAGGAATCTGCCAG	0.602000													11	17					0	0	0.001368	0	0
CELSR3	1951	broad.mit.edu	37	3	48677499	48677499	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48677499G>A	ENST00000544264.1	-	35	9814	c.9534C>T	c.(9532-9534)ccC>ccT	p.P3178P	CELSR3_ENST00000164024.4_Silent_p.P3173P			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3173					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGGAGACAGGGGCAGAGGTG	0.682000													13	18					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	145008819	145008819	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145008819A>G	ENST00000322810.4	-	10	1605	c.1436T>C	c.(1435-1437)aTc>aCc	p.I479T	PLEC_ENST00000354958.2_Missense_Mutation_p.I320T|PLEC_ENST00000345136.3_Missense_Mutation_p.I342T|PLEC_ENST00000398774.2_Missense_Mutation_p.I310T|PLEC_ENST00000354589.3_Missense_Mutation_p.I342T|PLEC_ENST00000357649.2_Missense_Mutation_p.I346T|PLEC_ENST00000436759.2_Missense_Mutation_p.I369T|PLEC_ENST00000527096.1_Missense_Mutation_p.I365T|PLEC_ENST00000356346.3_Missense_Mutation_p.I328T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	479	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						GGATTGGTAGATGCCCTTGGA	0.617000													14	124					0	0	0.006122	0	0
UBR2	23304	broad.mit.edu	37	6	42573596	42573596	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:42573596A>G	ENST00000372901.1	+	6	1058	c.801_splice	c.e6+1	p.D267_splice	UBR2_ENST00000372903.2_Splice_Site_p.D267_splice|UBR2_ENST00000372899.1_Splice_Site_p.D267_splice			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	267					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)			GTAGATCGAGATGTAAGTAAT	0.303000													4	49					0	0	0.000602	0	0
BMPER	168667	broad.mit.edu	37	7	34192847	34192847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:34192847G>A	ENST00000297161.2	+	16	2394	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R	BMPER_ENST00000426693.1_Missense_Mutation_p.G674R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	674	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTTCACAAGGGAAGGTGCAT	0.507000													42	82					0	0	0.003610	0	0
SCARF1	8578	broad.mit.edu	37	17	1538608	1538608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1538608G>A	ENST00000263071.4	-	11	1986	c.1937C>T	c.(1936-1938)tCc>tTc	p.S646F	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.S560F	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	646	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCGGAAAGGACTCGGGGGC	0.697000													6	21					0	0	0.001984	0	0
NOS1	4842	broad.mit.edu	37	12	117660537	117660537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:117660537C>T	ENST00000317775.6	-	26	4643	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1354K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1320					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E1320K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGTCTGGCTCCCGGGAGTAA	0.572000													50	97					0	0	0.003610	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018416	161018416	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:161018416C>G	ENST00000368013.3	-	12	2715	c.2395G>C	c.(2395-2397)Gac>Cac	p.D799H	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D622H	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	799	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGTCCTTTGTCCTCATCCTCT	0.522000													11	273					0	0	0.000978	0	0
ADNP2	22850	broad.mit.edu	37	18	77894959	77894959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:77894959C>T	ENST00000262198.4	+	4	2118	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	555					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGAGTTCTTCCTGTGGGCCA	0.557000													15	49					0	0	0.004007	0	0
POTEE	445582	broad.mit.edu	37	2	132010545	132010545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:132010545G>A	ENST00000356920.5	+	13	1745	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	551							ATP binding										TACTCATGTCGGATTCCCAGA	0.403000													25	82					0	0	0.005443	0	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:125282298G>A	ENST00000340750.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000													23	20					0	0	0.007291	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68229414	68229414	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:68229414G>T	ENST00000347230.4	-	33	6272	c.6134C>A	c.(6133-6135)gCc>gAc	p.A2045D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2045D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2045					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTAGTACTCGGCTTCCAAAAG	0.488000													20	55					3.01185e-09	5.1307e-09	0.003954	1	0
ZNF733P	643955	broad.mit.edu	37	7	62753192	62753192	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:62753192G>A	ENST00000331425.6	-	0	243					NR_003952.1																						GGTGAAATGGGAATGCGTAAC	0.358000													275	145					0	0	0.003610	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093438	143093438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:143093438G>A	ENST00000367603.2	-	5	3180	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S813L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S813L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTTTCAAATGAATTGGGTCG	0.498000													22	29					0	0	0.001882	0	0
RC3H1	149041	broad.mit.edu	37	1	173962102	173962102	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:173962102A>G	ENST00000367696.2	-	2	373	c.22T>C	c.(22-24)Tgg>Cgg	p.W8R	RC3H1_ENST00000367694.2_Missense_Mutation_p.W8R|RC3H1_ENST00000258349.4_Missense_Mutation_p.W8R			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	8					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AAATCCGTCCATTGTGGAGCT	0.438000													12	89					0	0	0.001368	0	0
NLRP1	22861	broad.mit.edu	37	17	5486148	5486148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:5486148G>A	ENST00000345221.3	-	2	844	c.290C>T	c.(289-291)cCc>cTc	p.P97L	NLRP1_ENST00000572272.1_Missense_Mutation_p.P97L|NLRP1_ENST00000262467.5_Missense_Mutation_p.P97L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.P97L|NLRP1_ENST00000269280.4_Missense_Mutation_p.P97L|NLRP1_ENST00000577119.1_Missense_Mutation_p.P97L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	97					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGCTGTAGGGGAATGAGGG	0.607000													6	19					0	0	0.003080	0	0
EHMT1	79813	broad.mit.edu	37	9	140638373	140638373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:140638373C>T	ENST00000460843.1	+	6	1028	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A303V|EHMT1_ENST00000462484.1_Missense_Mutation_p.A334V	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	334					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GACCTGGGCGCCAGCAGCCTG	0.602000													10	15					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152553294	152553294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:152553294G>A	ENST00000367255.5	-	113	21420	c.20819C>T	c.(20818-20820)tCc>tTc	p.S6940F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S6869F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6552F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6940F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6869F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1464F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6940					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAACCTATGGAATTTTTAAT	0.294000										HNSCC(10;0.0054)			26	45					0	0	0.003954	0	0
TESPA1	9840	broad.mit.edu	37	12	55356843	55356843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:55356843C>T	ENST00000524622.1	-	7	1086	c.425G>A	c.(424-426)aGa>aAa	p.R142K	TESPA1_ENST00000449076.1_Missense_Mutation_p.R280K|TESPA1_ENST00000532804.1_Missense_Mutation_p.R142K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R280K|TESPA1_ENST00000531122.1_Missense_Mutation_p.R142K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	280																	AAGGCGGTCTCTGGGTGACTG	0.547000													13	27					0	0	0.001855	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212519229	212519229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:212519229G>T	ENST00000261461.2	+	5	1232	c.658G>T	c.(658-660)Gga>Tga	p.G220*	PPP2R5A_ENST00000537030.3_Nonsense_Mutation_p.G163*	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	220					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAAATTTCTTGGATTAAGAGC	0.353000													16	87					2.31682e-05	3.91345e-05	0.003163	1	0
SEC24C	9632	broad.mit.edu	37	10	75520474	75520474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:75520474C>T	ENST00000339365.2	+	7	1016	c.854C>T	c.(853-855)tCc>tTc	p.S285F	SEC24C_ENST00000546025.1_Missense_Mutation_p.S143F|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.S285F|SEC24C_ENST00000411652.2_Missense_Mutation_p.S143F	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTCTCAGGTTCCTTCGGACCA	0.522000													65	36					0	0	0.003610	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52956469	52956469	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:52956469T>C	ENST00000371544.3	-	8	1585	c.1323A>G	c.(1321-1323)ttA>ttG	p.L441L	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.L441L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	441					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATCTACATATAATACTAATA	0.294000													18	12					0	0	0.007413	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513721	14513721	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14513721C>T	ENST00000454876.2	+	10	1434	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	SLC6A6_ENST00000360861.3_Silent_p.L369L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	369					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AGGTCCTGGCCTGGCCTTCAT	0.512000													24	32					0	0	0.006320	0	0
LTB4R	1241	broad.mit.edu	37	14	24785181	24785181	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24785181C>T	ENST00000396789.4	+	2	2049	c.324C>T	c.(322-324)atC>atT	p.I108I	LTB4R_ENST00000345363.3_Silent_p.I108I|LTB4R_ENST00000396782.2_Silent_p.I108I	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	108					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TCCTGCTTATCACGGCCATGA	0.622000													21	28					0	0	0.001523	0	0
TCTE1	202500	broad.mit.edu	37	6	44255286	44255286	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44255286T>C	ENST00000371505.4	-	2	399	c.277_splice	c.e2+1	p.K93_splice	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	93										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGACTCACTCTGGAAGTTC	0.597000													6	42					0	0	0.001168	0	0
TPR	7175	broad.mit.edu	37	1	186291519	186291519	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:186291519T>C	ENST00000367478.3	-	45	6688	c.6392A>G	c.(6391-6393)gAc>gGc	p.D2131G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2131					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)		AACTGTTCTGTCTTCATCATC	0.338000			T	NTRK1	papillary thyroid								12	55					0	0	0.001855	0	0
NDST4	64579	broad.mit.edu	37	4	115997908	115997908	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:115997908G>A	ENST00000264363.2	-	2	963	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	95	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGCTATGATATCTTGAC	0.433000													36	56					0	0	0.003755	0	0
TMEM245	23731	broad.mit.edu	37	9	111798547	111798547	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:111798547A>G	ENST00000374586.3	-	16	2369	c.2338T>C	c.(2338-2340)Ttg>Ctg	p.L780L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	780						integral to membrane											TGAAAAATCAACAGTAAAATG	0.443000													11	25					0	0	0.001368	0	0
SYPL2	284612	broad.mit.edu	37	1	110018237	110018237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:110018237C>T	ENST00000369872.3	+	3	380	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.S55F	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	55	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGCTCCTACAGCGGG	0.532000													130	142					0	0	0.003610	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218052	208218052	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:208218052C>T	ENST00000367033.3	-	20	4432	c.3675G>A	c.(3673-3675)tcG>tcA	p.S1225S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1225	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGACACTCACCGAGCCAGGCG	0.597000													9	29					0	0	0.006214	0	0
GPR84	53831	broad.mit.edu	37	12	54756680	54756680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:54756680C>T	ENST00000551809.1	-	1	1591	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R319Q			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAAACACATTCGAGTCACCTT	0.532000													42	71					0	0	0.006230	0	0
GRID2	2895	broad.mit.edu	37	4	94137898	94137898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:94137898G>A	ENST00000282020.4	+	6	1057	c.799G>A	c.(799-801)Gat>Aat	p.D267N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D172N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	267					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAATAAACGATGTGGACGT	0.378000													23	76					0	0	0.004656	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980946	206980946	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:206980946G>A	ENST00000453039.1	+	0	676					NR_033248.1																						TTCATAACGAGATTTGTTTAC	0.368000													28	51					0	0	0.005443	0	0
UCMA	221044	broad.mit.edu	37	10	13275752	13275752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:13275752C>T	ENST00000378681.3	-	2	179	c.107G>A	c.(106-108)gGa>gAa	p.G36E	UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	36						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CGCCTCTTCTCCCGCCATCTG	0.647000													14	46					0	0	0.003163	0	0
BACE1	23621	broad.mit.edu	37	11	117163893	117163893	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:117163893A>G	ENST00000313005.6	-	5	1177	c.717T>C	c.(715-717)ggT>ggC	p.G239G	BACE1_ENST00000428381.2_Silent_p.G170G|BACE1_ENST00000510630.1_Silent_p.G114G|BACE1_ENST00000528053.1_Silent_p.G239G|BACE1_ENST00000513780.1_Silent_p.G214G|BACE1_ENST00000445823.2_Silent_p.G195G|BACE1_ENST00000392937.6_Silent_p.G139G	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	239					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AGTGGTCGATACCTCCAATGA	0.512000													21	29					0	0	0.003954	0	0
PLCG2	5336	broad.mit.edu	37	16	81888101	81888101	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:81888101C>T	ENST00000359376.3	+	3	460	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	82	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAAAGATTTCGAGCGAGCAA	0.468000													16	76					0	0	0.004007	0	0
TTI1	9675	broad.mit.edu	37	20	36641607	36641607	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:36641607A>G	ENST00000373448.2	-	3	850	c.612T>C	c.(610-612)gaT>gaC	p.D204D	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.D204D|TTI1_ENST00000449821.1_Silent_p.D204D	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	204							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGGCAAACAAATCCCCCAGCT	0.423000													12	73					0	0	0.002450	0	0
ZNF714	148206	broad.mit.edu	37	19	21300877	21300877	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:21300877A>G	ENST00000596143.1	+	5	1732	c.1407A>G	c.(1405-1407)aaA>aaG	p.K469K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACCTTACTAAACATAACATAA	0.363000													4	21					0	0	0.001168	0	0
FRMD1	79981	broad.mit.edu	37	6	168467510	168467510	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:168467510C>T	ENST00000283309.6	-	4	450	c.384_splice	c.e4-1	p.G129_splice	FRMD1_ENST00000440994.2_Splice_Site_p.G61_splice|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	129	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTTCTCATTTCCCTAGTGGGG	0.577000													15	21					0	0	0.003163	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121791	73121791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:73121791C>T	ENST00000373189.5	+	6	906	c.854C>T	c.(853-855)tCg>tTg	p.S285L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	285					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AGTGCCCCTTCGGTGGCCTCC	0.587000													27	17					0	0	0.005443	0	0
CDK5	1020	broad.mit.edu	37	7	150752153	150752153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150752153G>A	ENST00000485972.1	-	9	1292	c.611C>T	c.(610-612)cCc>cTc	p.P204L	CDK5_ENST00000297518.4_Missense_Mutation_p.P172L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	204	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ATCATTGCCGGGAAAAAGAGG	0.557000													52	37					0	0	0.003610	0	0
SEPT4	5414	broad.mit.edu	37	17	56604107	56604107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:56604107G>A	ENST00000426861.1	-	2	322	c.236C>T	c.(235-237)cCt>cTt	p.P79L	SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000457347.2_Missense_Mutation_p.P113L|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000412945.3_Missense_Mutation_p.P90L|SEPT4_ENST00000393086.1_Missense_Mutation_p.P79L|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000317256.6_Missense_Mutation_p.P79L|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317268.3_Missense_Mutation_p.P98L	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	98					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCTGAGAGGGGCTGGGGC	0.632000													26	52					0	0	0.007291	0	0
PGM3	5238	broad.mit.edu	37	6	83885738	83885738	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:83885738G>A	ENST00000513973.1	-	9	1187	c.1071C>T	c.(1069-1071)caC>caT	p.H357H	PGM3_ENST00000283977.4_Silent_p.H276H|PGM3_ENST00000512866.1_Silent_p.H357H|PGM3_ENST00000506587.1_Silent_p.H385H	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	357					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GAGCCTTGTGGTGCAAATGTT	0.373000													16	34					0	0	0.007413	0	0
SPATA13	221178	broad.mit.edu	37	13	24823724	24823724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:24823724G>A	ENST00000424834.2	+	5	2236	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q	SPATA13_ENST00000382108.3_Missense_Mutation_p.R588Q|SPATA13_ENST00000382095.4_5'UTR			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCAAGGCCTCGGCCATTCTCT	0.607000													11	13					0	0	0.008291	0	0
SIRT2	22933	broad.mit.edu	37	19	39380777	39380777	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:39380777T>C	ENST00000249396.7	-	5	535	c.234A>G	c.(232-234)agA>agG	p.R78R	SIRT2_ENST00000358931.5_Silent_p.R78R|SIRT2_ENST00000392081.2_Silent_p.R41R	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	78	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AACAGATGACTCTGCGACCTG	0.557000													7	34					0	0	0.001984	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857936	149857936	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:149857936G>C	ENST00000369155.2	-	1	296	c.255C>G	c.(253-255)aaC>aaG	p.N85K		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	85					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGGAGCGCTTGTTGTAGTGCG	0.657000													8	77					0	0	0.004482	0	0
RBM15B	29890	broad.mit.edu	37	3	51431421	51431421	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:51431421A>G	ENST00000323686.4	+	1	2691	c.2591A>G	c.(2590-2592)cAg>cGg	p.Q864R		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	864	Interaction with Epstein-Barr virus BMLF1.|SPOC.				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)		TTTTCCCAGCAGTACCTCCAG	0.577000													16	80					0	0	0.004990	0	0
LENG8	114823	broad.mit.edu	37	19	54969155	54969155	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:54969155A>T	ENST00000326764.5	+	13	2355	c.1876A>T	c.(1876-1878)Acc>Tcc	p.T626S	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	589							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGTGTACGAGACCCATGCCCG	0.662000													6	31					0	0	0.006214	0	0
SH2B3	10019	broad.mit.edu	37	12	111885901	111885901	+	Missense_Mutation	SNP	G	G	C	rs79819500	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:111885901G>C	ENST00000341259.2	+	8	1880	c.1523G>C	c.(1522-1524)cGg>cCg	p.R508P	SH2B3_ENST00000538307.1_Missense_Mutation_p.R306P	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	508					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GGCTGTCCCCGGGGGCTCAGC	0.622000													18	70					0	0	0.007413	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72029312	72029312	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:72029312T>C	ENST00000378743.3	-	10	2507	c.2149A>G	c.(2149-2151)Agt>Ggt	p.S717G		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	717					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGATTCACTATCATCTGAA	0.358000													9	78					0	0	0.004482	0	0
AFTPH	54812	broad.mit.edu	37	2	64778975	64778975	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:64778975A>G	ENST00000422803.1	+	2	681	c.367A>G	c.(367-369)Act>Gct	p.T123A	AFTPH_ENST00000238855.7_Missense_Mutation_p.T123A|AFTPH_ENST00000409933.1_Missense_Mutation_p.T123A|AFTPH_ENST00000238856.4_Missense_Mutation_p.T123A			Q6ULP2	AFTIN_HUMAN	aftiphilin	123					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATGTTAGCTACTTCCATTGA	0.383000													11	41					0	0	0.001368	0	0
KCTD4	386618	broad.mit.edu	37	13	45768425	45768425	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:45768425A>G	ENST00000405872.1	-	2	681	c.278T>C	c.(277-279)cTa>cCa	p.L93P	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.L93P	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	93	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TCCATTTCGTAGGAAGTTTAG	0.438000													19	79					0	0	0.001523	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573519	101573519	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:101573519A>G	ENST00000326172.5	+	6	1550	c.1435A>G	c.(1435-1437)Aat>Gat	p.N479D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N379D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N357D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	479	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TAAAGAGCACAATGGACAGGT	0.453000													15	61					0	0	0.003163	0	0
MTUS2	23281	broad.mit.edu	37	13	29933398	29933398	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:29933398G>A	ENST00000431530.3	+	6	2993		c.e6-1			NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTTCTCACAGGATACCCAAA	0.547000													3	6					0	0	0.004672	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015004	75015004	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75015004G>A	ENST00000379727.3	-	2	633	c.435C>T	c.(433-435)ttC>ttT	p.F145F	CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.F145F|CYP1A1_ENST00000395048.2_Silent_p.F145F|CYP1A1_ENST00000395049.4_Silent_p.F145F			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	145					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGCAATGGAGAAACTTTTCA	0.582000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				46	95					0	0	0.003610	0	0
DDX17	10521	broad.mit.edu	37	22	38882385	38882385	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:38882385T>C	ENST00000396821.3	-	13	1850	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	DDX17_ENST00000444597.1_Missense_Mutation_p.D34G|DDX17_ENST00000381633.3_Missense_Mutation_p.D505G	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	503					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D582V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTCACACTCATCCTGATACAT	0.468000													7	37					0	0	0.004482	0	0
RBM19	9904	broad.mit.edu	37	12	114380139	114380139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:114380139G>A	ENST00000545145.2	-	14	1805	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	RBM19_ENST00000261741.5_Missense_Mutation_p.S576F|RBM19_ENST00000392561.3_Missense_Mutation_p.S576F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	576					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGGCTGAAGGAATCCAGGCT	0.612000													9	17					0	0	0.006214	0	0
TMEM251	26175	broad.mit.edu	37	14	93652910	93652910	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:93652910T>C	ENST00000415050.2	+	2	779	c.404T>C	c.(403-405)gTg>gCg	p.V135A	RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.V97A	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		CCCAAAACAGTGGGCTACTGT	0.423000													25	131					0	0	0.006320	0	0
CDCA7	83879	broad.mit.edu	37	2	174230312	174230312	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:174230312C>G	ENST00000306721.3	+	7	1130	c.1027C>G	c.(1027-1029)Cgt>Ggt	p.R343G	CDCA7_ENST00000347703.3_Missense_Mutation_p.R264G|CDCA7_ENST00000392567.2_Missense_Mutation_p.R264G|CDCA7_ENST00000410019.3_Missense_Mutation_p.R222G|CDCA7_ENST00000410101.3_Missense_Mutation_p.R299G	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	264	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATATATAACCGTTCACTGGT	0.468000													4	42					0	0	0.000602	0	0
POLK	51426	broad.mit.edu	37	5	74869588	74869588	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:74869588G>C	ENST00000241436.4	+	5	606	c.434G>C	c.(433-435)aGa>aCa	p.R145T	POLK_ENST00000504026.1_Missense_Mutation_p.R145T|POLK_ENST00000508526.1_Missense_Mutation_p.R145T|POLK_ENST00000380481.3_Missense_Mutation_p.R55T|POLK_ENST00000515295.1_Missense_Mutation_p.R145T|POLK_ENST00000352007.5_Missense_Mutation_p.R145T|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	145	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CATGCAAGGAGATTTGGTGTT	0.393000								DNA polymerases (catalytic subunits)					23	34					0	0	0.003330	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618832	77618832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:77618832G>A	ENST00000521891.2	+	2	2957	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E837K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E837K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E837K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	837						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGAAGCTGGAAAACCCTGC	0.552000										HNSCC(33;0.089)			3	12					0	0	0.004672	0	0
CSE1L	1434	broad.mit.edu	37	20	47695141	47695141	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47695141T>C	ENST00000262982.2	+	14	1587	c.1464T>C	c.(1462-1464)atT>atC	p.I488I	CSE1L_ENST00000396192.3_Silent_p.I432I|CSE1L_ENST00000542325.1_Silent_p.I271I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	488					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCAAATATATTATGATTTTTA	0.313000													27	90					0	0	0.002096	0	0
NSMAF	8439	broad.mit.edu	37	8	59511825	59511825	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:59511825T>C	ENST00000038176.3	-	19	1763	c.1551A>G	c.(1549-1551)aaA>aaG	p.K517K	NSMAF_ENST00000427130.2_Silent_p.K548K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	517	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCCCTTTTTGTTTGTAGCCAA	0.368000													25	212					0	0	0.005443	0	0
DLX4	1748	broad.mit.edu	37	17	48051170	48051170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:48051170C>T	ENST00000240306.3	+	3	881	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	DLX4_ENST00000411890.2_Missense_Mutation_p.P124S	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	196					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCTGTGTCTCCCTGCTCCCC	0.577000													20	56					0	0	0.001882	0	0
HEPH	9843	broad.mit.edu	37	X	65409642	65409642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:65409642C>T	ENST00000519389.1	+	6	1266	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	HEPH_ENST00000374727.3_Missense_Mutation_p.H312Y|HEPH_ENST00000441993.2_Missense_Mutation_p.H312Y|HEPH_ENST00000343002.2_Missense_Mutation_p.H309Y|HEPH_ENST00000336279.5_Missense_Mutation_p.H42Y|HEPH_ENST00000419594.1_Missense_Mutation_p.H312Y			Q9BQS7	HEPH_HUMAN	hephaestin	309	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGCATTTTTCCATGGACAGAT	0.498000													15	7					0	0	0.002450	0	0
PHKA2	5256	broad.mit.edu	37	X	18954222	18954222	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:18954222T>C	ENST00000379942.4	-	11	1753	c.1088A>G	c.(1087-1089)aAg>aGg	p.K363R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	363					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATCCCATTCTTGCCTCTGAT	0.542000													4	13					0	0	0.000248	0	0
GRIK2	2898	broad.mit.edu	37	6	102372565	102372565	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:102372565G>T	ENST00000369138.1	+	12	2328	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	GRIK2_ENST00000369134.4_Missense_Mutation_p.W564L|GRIK2_ENST00000318991.6_Missense_Mutation_p.W613L|GRIK2_ENST00000413795.1_Missense_Mutation_p.W613L|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000421544.1_Missense_Mutation_p.W613L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	613					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATAGTTTCTGGTTTGGAGTT	0.463000													16	33					4.7546e-09	8.0909e-09	0.004007	1	0
IL7R	3575	broad.mit.edu	37	5	35876265	35876265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:35876265G>A	ENST00000303115.3	+	8	1186	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	353					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCATCTGAGGATGTAGTCAT	0.507000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						18	27					0	0	0.007413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222705417	222705417	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:222705417C>T	ENST00000343410.6	-	6	1672	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	538					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCTTCCATTTCTTGTTTTTTC	0.433000													174	780					0	0	0.003610	0	0
NPSR1	387129	broad.mit.edu	37	7	34884511	34884511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:34884511G>A	ENST00000360581.1	+	7	889	c.761G>A	c.(760-762)gGg>gAg	p.G254E	NPSR1_ENST00000359791.1_Missense_Mutation_p.G254E|NPSR1_ENST00000381539.3_Missense_Mutation_p.G254E|NPSR1_ENST00000531252.1_Missense_Mutation_p.G243E|NPSR1_ENST00000381542.1_Missense_Mutation_p.G188E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACAGATGGGAAACTGTGC	0.408000													18	55					0	0	0.001523	0	0
PPIL1	51645	broad.mit.edu	37	6	36823785	36823785	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36823785T>C	ENST00000373699.5	-	4	556	c.305A>G	c.(304-306)aAt>aGt	p.N102S	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	102	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						TGGCCCCGCATTGGCCATTGC	0.552000													12	28					0	0	0.000978	0	0
ESYT2	57488	broad.mit.edu	37	7	158560404	158560404	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:158560404T>C	ENST00000251527.5	-	8	1074	c.1009A>G	c.(1009-1011)Atc>Gtc	p.I337V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	365						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAACGGTGATTCGATTGGGA	0.403000													9	120					0	0	0.004482	0	0
FDXR	2232	broad.mit.edu	37	17	72862251	72862251	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:72862251A>G	ENST00000455107.2	-	6	792		c.e6+1		FDXR_ENST00000581530.1_Splice_Site|FDXR_ENST00000442102.2_Splice_Site|FDXR_ENST00000582944.1_Splice_Site|FDXR_ENST00000583917.1_Splice_Site|FDXR_ENST00000420580.2_Splice_Site|FDXR_ENST00000413947.2_Splice_Site|FDXR_ENST00000293195.5_Splice_Site|FDXR_ENST00000544854.1_Splice_Site			P22570	ADRO_HUMAN	ferredoxin reductase						cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCCATACTCACCTCCTGGTT	0.657000													7	43					0	0	0.001984	0	0
NR2F1	7025	broad.mit.edu	37	5	92929368	92929368	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:92929368C>T	ENST00000327111.3	+	3	2779	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	364					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCAACCAGCCCAGCCGTTTTG	0.622000													24	24					0	0	0.002299	0	0
GPR84	53831	broad.mit.edu	37	12	54756709	54756709	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:54756709A>T	ENST00000551809.1	-	1	1562	c.927T>A	c.(925-927)gaT>gaA	p.D309E	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309E			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	309						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCGATGAAGAATCCGGAGCTC	0.498000													43	96					0	0	0.008740	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350678	65350678	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:65350678G>A	ENST00000309295.4	+	9	2800	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	845	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGAGACAGAGGTCGGGGGTT	0.562000													7	23					0	0	0.003080	0	0
PLCL2	23228	broad.mit.edu	37	3	17052779	17052779	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:17052779C>T	ENST00000418129.2	+	2	2028	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PLCL2_ENST00000396755.2_Silent_p.S521S|PLCL2_ENST00000432376.1_Silent_p.S521S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	647	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAGTCTGTTCCTTTAATGAAG	0.408000													32	99					0	0	0.008740	0	0
NCOA5	57727	broad.mit.edu	37	20	44708057	44708057	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:44708057T>C	ENST00000290231.6	-	2	171	c.7A>G	c.(7-9)Acg>Gcg	p.T3A		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	3	Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GATGGAGCCGTATTCATATTT	0.443000													10	49					0	0	0.001368	0	0
PRELP	5549	broad.mit.edu	37	1	203452498	203452498	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:203452498C>T	ENST00000343110.2	+	2	313	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	62					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTCCCCTCCCTCCAGGCC	0.642000													45	36					0	0	0.002852	0	0
C19orf26	255057	broad.mit.edu	37	19	1230931	1230931	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1230931T>C	ENST00000590083.1	-	9	1615	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	C19orf26_ENST00000215376.6_Silent_p.P435P|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	260						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCCATGCTGGAGAGGTGG	0.716000										HNSCC(14;0.022)			4	44					0	0	0.000602	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489584	100489584	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100489584A>G	ENST00000279907.7	-	7	913	c.701T>C	c.(700-702)tTa>tCa	p.L234S	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L234S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	234										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATTAGAACTAACTTTGTTGC	0.294000													4	32					0	0	0.000248	0	0
ALG3	10195	broad.mit.edu	37	3	183961764	183961764	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:183961764G>A	ENST00000455059.1	-	6	1081	c.627C>T	c.(625-627)ttC>ttT	p.F209F	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.F193F|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000397676.3_Silent_p.F249F|ALG3_ENST00000445626.2_Silent_p.F201F			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	249					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCAGCAGGAAGGGCAGCC	0.597000													20	34					0	0	0.003330	0	0
NDUFA9	4704	broad.mit.edu	37	12	4777656	4777656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:4777656C>T	ENST00000266544.5	+	7	709	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	230					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCCCTTGGTTCCTTGGGCTGG	0.403000													45	98					0	0	0.003610	0	0
NUMB	8650	broad.mit.edu	37	14	73743497	73743497	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:73743497T>C	ENST00000556772.1	-	7	3600	c.1313A>G	c.(1312-1314)cAc>cGc	p.H438R	NUMB_ENST00000560335.1_Missense_Mutation_p.H436R|NUMB_ENST00000559312.1_Missense_Mutation_p.H387R|NUMB_ENST00000557597.1_Missense_Mutation_p.H571R|NUMB_ENST00000555394.1_Missense_Mutation_p.H534R|NUMB_ENST00000555738.2_Missense_Mutation_p.H425R|NUMB_ENST00000555238.1_Missense_Mutation_p.H582R|NUMB_ENST00000554546.1_Missense_Mutation_p.H523R|NUMB_ENST00000355058.3_Missense_Mutation_p.H582R|NUMB_ENST00000359560.3_Missense_Mutation_p.H571R|NUMB_ENST00000544991.3_Missense_Mutation_p.H387R|NUMB_ENST00000535282.1_Missense_Mutation_p.H571R|NUMB_ENST00000554521.2_Missense_Mutation_p.H376R|NUMB_ENST00000356296.4_Missense_Mutation_p.H534R|NUMB_ENST00000454166.4_Missense_Mutation_p.H436R			P49757	NUMB_HUMAN	numb homolog (Drosophila)	582					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACCGTTGAGGTGCTGAGCAGG	0.562000													4	43					0	0	0.000248	0	0
TRPC6	7225	broad.mit.edu	37	11	101353691	101353691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:101353691G>A	ENST00000344327.3	-	5	1923	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	TRPC6_ENST00000348423.4_Missense_Mutation_p.S384F|TRPC6_ENST00000532133.1_Missense_Mutation_p.S500F|TRPC6_ENST00000360497.4_Missense_Mutation_p.S445F	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	500					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TATTACCCAGGATATAATGAG	0.393000													32	22					0	0	0.002836	0	0
SEC62	7095	broad.mit.edu	37	3	169700534	169700534	+	Silent	SNP	A	A	G	rs140128825	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:169700534A>G	ENST00000337002.4	+	4	349	c.291A>G	c.(289-291)gtA>gtG	p.V97V	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Silent_p.V97V	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	97					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CCCTAAAAGTAATGAAAATGA	0.308000													47	78					0	0	0.003610	0	0
ARCN1	372	broad.mit.edu	37	11	118463521	118463521	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118463521T>C	ENST00000359415.4	+	8	1370	c.1205T>C	c.(1204-1206)gTg>gCg	p.V402A	ARCN1_ENST00000264028.4_Missense_Mutation_p.V361A|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.V273A			P48444	COPD_HUMAN	archain 1	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GACGTAGGGGTGCTAAAGTGG	0.433000													39	118					0	0	0.002852	0	0
ANO3	63982	broad.mit.edu	37	11	26620444	26620444	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26620444A>G	ENST00000256737.3	+	16	2422	c.1570A>G	c.(1570-1572)Atg>Gtg	p.M524V	ANO3_ENST00000537978.1_Missense_Mutation_p.M508V|ANO3_ENST00000531568.1_Missense_Mutation_p.M378V|ANO3_ENST00000525139.1_Missense_Mutation_p.M508V	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	524						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTATTACAAGATGGAGATTGT	0.393000													3	29					0	0	0.004672	0	0
FRY	10129	broad.mit.edu	37	13	32745227	32745227	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:32745227T>C	ENST00000380250.3	+	18	2467	c.1971T>C	c.(1969-1971)gaT>gaC	p.D657D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTCTCAGATTGGAGGGAAG	0.413000													44	62					0	0	0.003610	0	0
ATG2A	23130	broad.mit.edu	37	11	64684506	64684506	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:64684506G>A	ENST00000421419.2	-	1	216	c.102C>T	c.(100-102)agC>agT	p.S34S	ATG2A_ENST00000377264.3_Silent_p.S34S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	34							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGGTCCAGGCTGAGGTGCT	0.582000													18	24					0	0	0.001523	0	0
FAM179A	165186	broad.mit.edu	37	2	29245103	29245103	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:29245103G>A	ENST00000379558.4	+	11	1791	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	FAM179A_ENST00000403861.2_Silent_p.K425K|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	480							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCCTGTAAGGAGTTGAGGC	0.542000													31	57					0	0	0.001786	0	0
CD300A	11314	broad.mit.edu	37	17	72469917	72469917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:72469917G>A	ENST00000360141.3	+	2	571	c.283G>A	c.(283-285)Gag>Aag	p.E95K	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	95	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAATCTCACAGAGGAGGATGC	0.562000													22	53					0	0	0.002299	0	0
NOS3	4846	broad.mit.edu	37	7	150706067	150706067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150706067G>A	ENST00000297494.3	+	18	2519	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	NOS3_ENST00000461406.1_Missense_Mutation_p.R515Q	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	721					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCGCCGCCCGAGACATCTTC	0.706000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	72					0	0	0.008871	0	0
BTBD6	90135	broad.mit.edu	37	14	105716494	105716494	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:105716494T>C	ENST00000463376.2	+	3	1259	c.718T>C	c.(718-720)Tac>Cac	p.Y240H	BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.Y315H|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.Y240H|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.Y315H			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	315						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTTCCTGTGGTACACGGCCAC	0.607000													18	89					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237580394	237580394	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:237580394C>T	ENST00000366574.2	+	11	1136	c.819C>T	c.(817-819)tcC>tcT	p.S273S	RYR2_ENST00000360064.6_Silent_p.S271S|RYR2_ENST00000542537.1_Silent_p.S257S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	273	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCACGTTCCCTTTGGAGAC	0.418000													35	35					0	0	0.005524	0	0
KMT2C	58508	broad.mit.edu	37	7	151851484	151851484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:151851484G>A	ENST00000355193.2	-	48	12396	c.12178C>T	c.(12178-12180)Ccc>Tcc	p.P4060S	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.P4003S					lysine (K)-specific methyltransferase 2C																		GAGGATGAGGGAACAAAACTG	0.502000													96	117					0	0	0.003610	0	0
IL17RD	54756	broad.mit.edu	37	3	57143644	57143644	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:57143644C>T	ENST00000296318.7	-	5	559	c.471G>A	c.(469-471)acG>acA	p.T157T	IL17RD_ENST00000320057.5_Silent_p.T13T|IL17RD_ENST00000427856.2_Silent_p.T133T|IL17RD_ENST00000463523.1_Silent_p.T13T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGAAATAATCCGTTTCAAATT	0.413000													26	38					0	0	0.003330	0	0
GNAS	2778	broad.mit.edu	37	20	57415886	57415886	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:57415886T>C	ENST00000313949.7	+	1	1114	c.725T>C	c.(724-726)aTc>aCc	p.I242T	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.I242T|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.I242T			P63092	GNAS2_HUMAN	GNAS complex locus	0			T -> I (in AHO).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCATCCCCATCCGGCGTCAC	0.617000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			9	29					0	0	0.004482	0	0
PKN3	29941	broad.mit.edu	37	9	131482253	131482253	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:131482253A>G	ENST00000291906.4	+	20	2726	c.2333A>G	c.(2332-2334)tAc>tGc	p.Y778C	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	778	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GACGCCCCCTACCCCGGCTTT	0.622000													17	75					0	0	0.008871	0	0
VWA8	23078	broad.mit.edu	37	13	42149909	42149909	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:42149909G>A	ENST00000379310.3	-	43	5405	c.5337C>T	c.(5335-5337)ccC>ccT	p.P1779P		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TATTGTCCTTGGGGATTTTGT	0.348000													8	55					0	0	0.008291	0	0
BPTF	2186	broad.mit.edu	37	17	65890239	65890239	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:65890239T>C	ENST00000321892.4	+	9	2940	c.2879T>C	c.(2878-2880)gTt>gCt	p.V960A	BPTF_ENST00000424123.3_Missense_Mutation_p.V821A|BPTF_ENST00000335221.5_Missense_Mutation_p.V960A|BPTF_ENST00000306378.6_Missense_Mutation_p.V834A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	960					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTAAACCAGTTGTGATGCTA	0.403000													19	93					0	0	0.008871	0	0
TRIM3	10612	broad.mit.edu	37	11	6477534	6477534	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:6477534G>A	ENST00000525074.1	-	6	1816	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	TRIM3_ENST00000359518.3_Silent_p.F474F|TRIM3_ENST00000345851.3_Silent_p.F474F|TRIM3_ENST00000537602.1_Silent_p.F396F|TRIM3_ENST00000536344.1_Silent_p.F355F|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	474					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCAACACGGAAGACGAGCT	0.577000													14	24					0	0	0.006122	0	0
TGM1	7051	broad.mit.edu	37	14	24731398	24731398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24731398C>T	ENST00000206765.6	-	2	284	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	54	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCGCATTTCGGCATGAACA	0.647000													27	59					0	0	0.008361	0	0
PELI2	57161	broad.mit.edu	37	14	56757136	56757136	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:56757136T>C	ENST00000267460.4	+	5	944	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	220					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGTGTACACCTTGCGAGAAAC	0.562000													12	100					0	0	0.001855	0	0
BCAS3	54828	broad.mit.edu	37	17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:58756885C>T	ENST00000589222.1	+	2	135	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_ENST00000390652.5_Missense_Mutation_p.R23C|BCAS3_ENST00000407086.3_Missense_Mutation_p.R23C|BCAS3_ENST00000588462.1_Missense_Mutation_p.R23C|BCAS3_ENST00000408905.3_Missense_Mutation_p.R23C			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	23						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403000													114	184					0	0	0.003610	0	0
BEND4	389206	broad.mit.edu	37	4	42145831	42145831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:42145831C>T	ENST00000502486.1	-	3	1247	c.668G>A	c.(667-669)aGt>aAt	p.S223N	BEND4_ENST00000504360.1_Missense_Mutation_p.S219N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	223										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGAGGTCTGACTGTGGACCCC	0.433000													4	27					0	0	0.000248	0	0
LILRB1	10859	broad.mit.edu	37	19	55142723	55142723	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:55142723G>A	ENST00000396331.1	+	4	393	c.34_splice	c.e4-1	p.G12_splice	LILRB1_ENST00000434867.2_Splice_Site_p.G12_splice|LILRB1_ENST00000324602.7_Splice_Site_p.G12_splice|LILRB1_ENST00000427581.2_Splice_Site_p.G48_splice|LILRB1_ENST00000396315.1_Splice_Site_p.G12_splice|LILRB1_ENST00000396317.1_Splice_Site_p.G12_splice|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396327.3_Splice_Site_p.G12_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Splice_Site_p.G12_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	12					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCTTCCAGGGCTGAGTCTGG	0.667000										HNSCC(37;0.09)			18	36					0	0	0.008871	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427407	80427407	+	Splice_Site	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:80427407C>G	ENST00000265361.3	-	11	1693		c.e11+1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATACTTACAGTTCCAGGG	0.398000													12	100					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9075994	9075994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9075994G>A	ENST00000397910.4	-	3	11655	c.11452C>T	c.(11452-11454)Ccc>Tcc	p.P3818S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3819	Thr-rich.				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						GTGGTGGTGGGAAGCTGAGTG	0.507000													25	161					0	0	0.007291	0	0
PLCG2	5336	broad.mit.edu	37	16	81969853	81969853	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:81969853C>T	ENST00000359376.3	+	27	3136	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	974	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCGTCGACCTCCTGAAGTACA	0.527000													7	31					0	0	0.003080	0	0
SYK	6850	broad.mit.edu	37	9	93637033	93637033	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:93637033G>A	ENST00000375754.4	+	9	1231	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	SYK_ENST00000375746.1_Silent_p.K361K|SYK_ENST00000375751.4_Silent_p.K338K|SYK_ENST00000375747.1_Silent_p.K338K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	361	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAGGCCCAAGGAGGTTTACC	0.527000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								65	103					0	0	0.003610	0	0
ZNF451	26036	broad.mit.edu	37	6	56993563	56993563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:56993563G>A	ENST00000370706.4	+	5	593	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E117K|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E117K	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGGTTACAAGAATTGGAATT	0.353000													18	60					0	0	0.003330	0	0
TARBP2	6895	broad.mit.edu	37	12	53898559	53898559	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53898559A>G	ENST00000266987.2	+	6	1056	c.573A>G	c.(571-573)gaA>gaG	p.E191E	TARBP2_ENST00000456234.2_Silent_p.E170E|TARBP2_ENST00000394357.2_Silent_p.E170E|TARBP2_ENST00000552857.1_Silent_p.E100E	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	191	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACCGCAAAGAATTCACCATGA	0.592000													10	52					0	0	0.000978	0	0
SBK1	388228	broad.mit.edu	37	16	28331598	28331598	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28331598A>G	ENST00000341901.4	+	4	1420	c.631A>G	c.(631-633)Acc>Gcc	p.T211A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	211	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGTGAGCGGCACCATCCCTTA	0.711000													6	12					0	0	0.001984	0	0
KLHL3	26249	broad.mit.edu	37	5	136969750	136969750	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:136969750T>C	ENST00000508657.1	-	12	2044	c.1330A>G	c.(1330-1332)Atg>Gtg	p.M444V	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000309755.4_Missense_Mutation_p.M476V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M394V	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	476						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGGGTGCTCATGTCCGCCACG	0.517000													29	80					0	0	0.006320	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438620	204438620	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:204438620T>C	ENST00000367187.3	-	3	867	c.311A>G	c.(310-312)aAc>aGc	p.N104S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N104S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	104	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGTAGAGTGGTTGGGCGGCCC	0.577000													11	54					0	0	0.001855	0	0
PRSS1	5644	broad.mit.edu	37	7	142458473	142458473	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142458473C>T	ENST00000486171.1	+	2	125	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PRSS1_ENST00000311737.7_Silent_p.P36P			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	36	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATTCTGTCCCCTACCAGGTGT	0.532000													33	264					0	0	0.002836	0	0
CST6	1474	broad.mit.edu	37	11	65780335	65780335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:65780335G>A	ENST00000312134.2	+	2	483	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	93					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						CGATGGAGATGGGGAGCACAG	0.627000													9	30					0	0	0.006214	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590917	83590917	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:83590917T>C	ENST00000265362.3	-	17	2400	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T696A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	696					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCTAGGTGTCATGCTATTG	0.438000													33	188					0	0	0.004878	0	0
LIMCH1	22998	broad.mit.edu	37	4	41615515	41615515	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:41615515T>C	ENST00000313860.7	+	7	573	c.519T>C	c.(517-519)agT>agC	p.S173S	LIMCH1_ENST00000509277.1_Silent_p.S19S|LIMCH1_ENST00000512632.1_Silent_p.S173S|LIMCH1_ENST00000508501.1_Silent_p.S173S|LIMCH1_ENST00000512820.1_Silent_p.S173S|LIMCH1_ENST00000396595.3_Silent_p.S19S|LIMCH1_ENST00000512946.1_Silent_p.S173S|LIMCH1_ENST00000509454.1_Silent_p.S21S|LIMCH1_ENST00000511496.1_Silent_p.S14S|LIMCH1_ENST00000381753.4_Silent_p.S19S|LIMCH1_ENST00000513024.1_Silent_p.S14S|LIMCH1_ENST00000503057.1_Silent_p.S14S|LIMCH1_ENST00000514096.1_Silent_p.S26S|LIMCH1_ENST00000509638.1_Silent_p.S14S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	173					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTAAACGCAGTATCCGAGACA	0.493000													7	49					0	0	0.001984	0	0
HDLBP	3069	broad.mit.edu	37	2	242196123	242196123	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:242196123T>C	ENST00000391975.1	-	6	776	c.549A>G	c.(547-549)aaA>aaG	p.K183K	HDLBP_ENST00000427183.2_Silent_p.K219K|HDLBP_ENST00000310931.4_Silent_p.K183K|HDLBP_ENST00000391976.2_Silent_p.K183K	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	183	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.K183fs*42(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTGGATTTTGGTTGCAG	0.478000													19	89					0	0	0.008871	0	0
PRR14	78994	broad.mit.edu	37	16	30664151	30664151	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30664151C>G	ENST00000542965.2	+	3	758	c.302C>G	c.(301-303)tCc>tGc	p.S101C	PRR14_ENST00000300835.4_Missense_Mutation_p.S101C			Q9BWN1	PRR14_HUMAN	proline rich 14	101	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCGGGTGGTCCTCGCAGGCC	0.642000													4	30					0	0	0.000248	0	0
NCAPH	23397	broad.mit.edu	37	2	97030289	97030289	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:97030289A>G	ENST00000455200.1	+	13	1920	c.1625A>G	c.(1624-1626)aAc>aGc	p.N542S	NCAPH_ENST00000427946.1_Missense_Mutation_p.N417S|NCAPH_ENST00000240423.4_Missense_Mutation_p.N553S			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	553					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TATGATTACAACAACCCTAAC	0.443000													10	34					0	0	0.001368	0	0
SPATA16	83893	broad.mit.edu	37	3	172835088	172835088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:172835088G>A	ENST00000351008.3	-	2	617	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	145					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACTCCCAGTAGACATGAAGGA	0.428000													24	53					0	0	0.003954	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:103040432G>A	ENST00000264260.2	+	4	821	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000													18	32					0	0	0.006122	0	0
COL5A2	1290	broad.mit.edu	37	2	189922126	189922126	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:189922126C>G	ENST00000374866.3	-	34	2531	c.2257G>C	c.(2257-2259)Gga>Cga	p.G753R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	753					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGTATCTCCAGGGGTCCCA	0.438000													32	62					0	0	0.004878	0	0
NUCKS1	64710	broad.mit.edu	37	1	205688709	205688709	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:205688709A>G	ENST00000367142.4	-	6	780	c.478T>C	c.(478-480)Tcc>Ccc	p.S160P	NUCKS1_ENST00000464938.1_5'UTR	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	160	Lys-rich.					nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCAGGTTTGGACTTCTTAACC	0.353000													14	145					0	0	0.008871	0	0
ARID2	196528	broad.mit.edu	37	12	46246415	46246415	+	Silent	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:46246415T>G	ENST00000334344.6	+	15	4681	c.4509T>G	c.(4507-4509)gtT>gtG	p.V1503V	ARID2_ENST00000457135.1_Silent_p.V111V|ARID2_ENST00000444670.1_Silent_p.V1113V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.V1354V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1503					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATCTGACGTTCGGTCTACAA	0.443000			"""N, S, F"""		hepatocellular carcinoma								43	56					0	0	0.003214	0	0
EPHA8	2046	broad.mit.edu	37	1	22927261	22927261	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:22927261G>A	ENST00000166244.3	+	14	2568	c.2496G>A	c.(2494-2496)ctG>ctA	p.L832L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	832	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAGGTGCTGGCCTATGGGG	0.677000													13	74					0	0	0.003163	0	0
SCN5A	6331	broad.mit.edu	37	3	38592724	38592724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38592724C>T	ENST00000413689.1	-	28	5332	c.5139G>A	c.(5137-5139)tgG>tgA	p.W1713*	SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1695*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1695*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1680*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1713*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1659*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1713					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGAGGCCATCCCAGCCGGCCG	0.632000													32	66					0	0	0.001786	0	0
RRAGC	64121	broad.mit.edu	37	1	39322586	39322586	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:39322586C>G	ENST00000373001.3	-	2	582	c.406G>C	c.(406-408)Gga>Cga	p.G136R		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	136					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GCTCCTGTTCCCCTGAAGATC	0.408000													28	68					0	0	0.008361	0	0
HCP5	10866	broad.mit.edu	37	6	31431776	31431776	+	RNA	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:31431776C>T	ENST00000414046.2	+	0	848					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						gtccaattcccctgtggcagc	0.532000													37	77					0	0	0.005524	0	0
DEFB115	245929	broad.mit.edu	37	20	29847290	29847290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:29847290G>A	ENST00000400552.1	+	2	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	41					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTATTATGGAACTGGCAGA	0.318000													16	39					0	0	0.004007	0	0
CLCN2	1181	broad.mit.edu	37	3	184076015	184076015	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:184076015T>A	ENST00000265593.4	-	4	607	c.436A>T	c.(436-438)Act>Tct	p.T146S	CLCN2_ENST00000457512.1_Missense_Mutation_p.T146S|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.T102S|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.T146S	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	146						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGAGAAAGTGATGAGGACA	0.592000													32	75					0	0	0.003271	0	0
UNKL	64718	broad.mit.edu	37	16	1416300	1416300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:1416300G>A	ENST00000389221.4	-	15	1983	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	UNKL_ENST00000397464.1_Missense_Mutation_p.P164S|UNKL_ENST00000248104.7_Missense_Mutation_p.P211S|UNKL_ENST00000391893.2_Missense_Mutation_p.P211S|UNKL_ENST00000508903.2_Missense_Mutation_p.P715S|UNKL_ENST00000402641.2_Missense_Mutation_p.P214S|UNKL_ENST00000403703.1_Missense_Mutation_p.P214S	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	662						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCCGCACACGGCTCACAGAGG	0.697000													7	8					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21235215	21235215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:21235215G>A	ENST00000233242.1	-	26	4652	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1509					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTGTTAGGATCCCTCTGA	0.468000													143	253					0	0	0.003610	0	0
IDNK	414328	broad.mit.edu	37	9	86256506	86256506	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:86256506G>A	ENST00000277124.8	+	5	919	c.74_splice	c.e5+1	p.R25_splice	IDNK_ENST00000376417.4_Intron|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376419.4_Splice_Site_p.R71_splice|IDNK_ENST00000454393.1_Splice_Site_p.R114_splice	NM_001256915.1	NP_001243844.1	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	71					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity										ATTTTACTAAGGTAAGAGACC	0.418000													30	73					0	0	0.002836	0	0
LRP10	26020	broad.mit.edu	37	14	23345368	23345368	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23345368T>C	ENST00000359591.4	+	5	1902	c.1211T>C	c.(1210-1212)tTc>tCc	p.F404S	LRP10_ENST00000546834.1_Missense_Mutation_p.F404S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	404	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCTGGCAATTTCCGATGCCGG	0.592000													12	68					0	0	0.000978	0	0
TSTA3	7264	broad.mit.edu	37	8	144695448	144695448	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144695448C>T	ENST00000425753.2	-	10	931	c.828G>A	c.(826-828)tcG>tcA	p.S276S	TSTA3_ENST00000529064.1_Silent_p.S276S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	276					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACTGCCCATCCGACTTGGTTG	0.577000													14	74					0	0	0.004007	0	0
ULBP1	80329	broad.mit.edu	37	6	150290481	150290481	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:150290481A>T	ENST00000229708.2	+	3	653	c.610A>T	c.(610-612)Atg>Ttg	p.M204L	ULBP1_ENST00000367345.1_Missense_Mutation_p.M204L	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	204	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CTGGGAACAAATGCTGGATCC	0.453000													30	34					0	0	0.003271	0	0
TPM4	7171	broad.mit.edu	37	19	16204522	16204522	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:16204522G>C	ENST00000300933.4	+	7	883	c.623G>C	c.(622-624)aGa>aCa	p.R208T	TPM4_ENST00000344824.6_Missense_Mutation_p.R244T|TPM4_ENST00000538887.1_Missense_Mutation_p.R244T|TPM4_ENST00000591645.1_3'UTR	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	208					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						TTTGCAGAGAGAACGGTTGCA	0.493000			T	ALK	ALCL								7	39					0	0	0.003080	0	0
TMEM2	23670	broad.mit.edu	37	9	74312988	74312988	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:74312988T>C	ENST00000377044.4	-	20	4049	c.3510A>G	c.(3508-3510)gcA>gcG	p.A1170A	TMEM2_ENST00000396272.3_Silent_p.A163A|TMEM2_ENST00000377066.5_Silent_p.A1107A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1170						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTGTGGGTATGCTTTGGCCA	0.522000													18	37					0	0	0.004990	0	0
ARID3C	138715	broad.mit.edu	37	9	34622434	34622434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:34622434C>T	ENST00000378909.2	-	5	1050	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	320	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GCTCTCTTCTCTGGGGGCTCC	0.612000													82	20					0	0	0.003610	0	0
SFMBT1	51460	broad.mit.edu	37	3	52954617	52954617	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:52954617A>G	ENST00000394752.3	-	12	1690	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	SFMBT1_ENST00000394750.1_Silent_p.D436D|SFMBT1_ENST00000296295.6_Silent_p.D436D|SFMBT1_ENST00000358080.2_Silent_p.D436D	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	436					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AAGGAAATATATCCATGGATT	0.413000													15	68					0	0	0.004990	0	0
PODXL	5420	broad.mit.edu	37	7	131195932	131195932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:131195932C>T	ENST00000541194.1	-	2	624	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PODXL_ENST00000322985.9_Missense_Mutation_p.E121K|PODXL_ENST00000537928.1_Missense_Mutation_p.E121K|PODXL_ENST00000378555.3_Missense_Mutation_p.E121K	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	121	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TTGGGGCTCTCGATGGTGGTA	0.557000													232	138					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498990	110498990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:110498990G>A	ENST00000378402.5	+	59	9924	c.9820G>A	c.(9820-9822)Gac>Aac	p.D3274N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3274					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGTCTGAGGACTCTTTTGG	0.413000										HNSCC(38;0.096)			150	161					0	0	0.003610	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793485	11793485	+	RNA	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:11793485T>C	ENST00000344893.3	+	0	1687					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTGATGTCTGTAGGTAAGGGT	0.448000													3	28					0	0	0.000248	0	0
RTEL1	51750	broad.mit.edu	37	20	62326722	62326722	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:62326722A>G	ENST00000318100.4	+	34	4368	c.3541A>G	c.(3541-3543)Atc>Gtc	p.I1181V	RTEL1_ENST00000360203.5_Missense_Mutation_p.I1181V|RTEL1_ENST00000508582.2_Missense_Mutation_p.I1205V|RTEL1_ENST00000370018.3_Missense_Mutation_p.I1181V|RTEL1_ENST00000370003.1_Missense_Mutation_p.I426V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.I1181V			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1181					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGAGCAAGATCTCGTCCTT	0.662000													37	114					0	0	0.006230	0	0
DDX24	57062	broad.mit.edu	37	14	94526554	94526554	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:94526554T>C	ENST00000330836.5	-	5	1934	c.1803A>G	c.(1801-1803)aaA>aaG	p.K601K	DDX24_ENST00000555054.1_Silent_p.K558K|DDX24_ENST00000544005.1_Silent_p.K351K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	601	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CAGAGAGGCGTTTGATGCAGG	0.502000													20	43					0	0	0.001523	0	0
CMPK2	129607	broad.mit.edu	37	2	6991653	6991653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:6991653C>T	ENST00000256722.5	-	4	1153	c.1154G>A	c.(1153-1155)aGg>aAg	p.R385K	CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000404168.1_Missense_Mutation_p.R385K|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	385					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.R385K(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGCAGCCTCTGCAACCT	0.567000													27	51					0	0	0.008361	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213011	26213011	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:26213011A>T	ENST00000379034.1	+	2	1197	c.1048A>T	c.(1048-1050)Agt>Tgt	p.S350C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	350	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGTGTGCAACAGTGATCCTCC	0.493000													24	37					0	0	0.001786	0	0
MYO1F	4542	broad.mit.edu	37	19	8595446	8595446	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:8595446C>T	ENST00000338257.8	-	20	2322	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	685						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCACCTCCTCCAGGAGGAAAA	0.652000													26	68					0	0	0.005443	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650955	46650955	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:46650955T>C	ENST00000372003.1	+	8	1117	c.653T>C	c.(652-654)gTg>gCg	p.V218A	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	218						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTGGGTGGTGTGGCAGCTGGA	0.542000													42	166					0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92733845	92733845	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:92733845C>T	ENST00000379958.2	-	3	1835	c.1566G>A	c.(1564-1566)agG>agA	p.R522R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	522						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCAGTTTCCTGACATCAG	0.418000													140	73					0	0	0.003610	0	0
VIL1	7429	broad.mit.edu	37	2	219301904	219301904	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:219301904A>G	ENST00000248444.5	+	17	2117	c.2029A>G	c.(2029-2031)Act>Gct	p.T677A	VIL1_ENST00000392114.2_Missense_Mutation_p.T366A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	677	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCAGCAACCACTGCACAGGA	0.577000													21	67					0	0	0.002299	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405320	105405320	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:105405320G>C	ENST00000333244.5	-	7	16587	c.16468C>G	c.(16468-16470)Ctc>Gtc	p.L5490V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L488V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5490						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTACTGAGAGATCTACAAAC	0.448000													6	15					0	0	0.001984	0	0
IL20RA	53832	broad.mit.edu	37	6	137322980	137322980	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:137322980G>A	ENST00000367748.1	-	6	1630	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	IL20RA_ENST00000541547.1_Silent_p.P410P|IL20RA_ENST00000316649.5_Silent_p.P459P			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	459						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCTGCGCCAGGGGGTCTAAGT	0.587000													20	33					0	0	0.003330	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396814	43396814	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:43396814T>C	ENST00000426263.3	-	3	356	c.178A>G	c.(178-180)Acg>Gcg	p.T60A	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Missense_Mutation_p.T60A|SLC2A1_ENST00000372500.3_Missense_Mutation_p.T60A	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	60					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GTGGTGAGCGTGGTGGGCAGG	0.592000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	44					0	0	0.003163	0	0
KRT79	338785	broad.mit.edu	37	12	53217794	53217794	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53217794A>C	ENST00000330553.5	-	6	1057	c.1023T>G	c.(1021-1023)taT>taG	p.Y341*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	341	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGCTCCTCATACTGGGGAC	0.607000													5	40					0	0	0.001168	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719937	48719937	+	Silent	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48719937T>G	ENST00000294129.2	-	3	449	c.330A>C	c.(328-330)tcA>tcC	p.S110S	NCKIPSD_ENST00000416649.2_Silent_p.S110S|NCKIPSD_ENST00000341520.4_Silent_p.S110S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	110					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTGGAGGCTGAAGGGCCTC	0.567000													24	155					0	0	0.007291	0	0
FAM69C	125704	broad.mit.edu	37	18	72109238	72109238	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:72109238A>G	ENST00000343998.6	-	3	998	c.990T>C	c.(988-990)tgT>tgC	p.C330C	FAM69C_ENST00000400291.2_Silent_p.C31C	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	330						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						CTCGTAAATCACATCTTGAAA	0.478000													22	60					0	0	0.003954	0	0
USP20	10868	broad.mit.edu	37	9	132632009	132632009	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:132632009A>G	ENST00000315480.4	+	14	1609	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	USP20_ENST00000358355.1_Missense_Mutation_p.D484G|USP20_ENST00000372429.3_Missense_Mutation_p.D484G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	484					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGAAAGGAGGACCTGGCCAAG	0.587000													12	76					0	0	0.003163	0	0
GTF3C3	9330	broad.mit.edu	37	2	197645259	197645259	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:197645259T>A	ENST00000409364.3	-	9	1289	c.1242A>T	c.(1240-1242)tgA>tgT	p.*414C	GTF3C3_ENST00000263956.3_Intron	NM_001206774.1	NP_001193703.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	0						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGAAGTATCTCAAGTGCAGA	0.368000													8	28					0	0	0.003080	0	0
REXO1	57455	broad.mit.edu	37	19	1828589	1828589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1828589G>A	ENST00000170168.4	-	2	293	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	67						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGCGCGGGGGGCTTGGGC	0.682000													6	20					0	0	0.001984	0	0
ATP5C1	509	broad.mit.edu	37	10	7841005	7841005	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:7841005C>T	ENST00000356708.7	+	4	355	c.276C>T	c.(274-276)ctC>ctT	p.L92L	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.L92L|ATP5C1_ENST00000541227.1_Silent_p.L45L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	92					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						AGAAACACCTCCTTATTGGTG	0.398000													45	58					0	0	0.003610	0	0
NAV1	89796	broad.mit.edu	37	1	201750364	201750364	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:201750364G>A	ENST00000367296.4	+	5	2010	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K	NAV1_ENST00000367295.1_Silent_p.K139K|NAV1_ENST00000367302.1_Silent_p.K543K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.K530K|NAV1_ENST00000367297.4_Silent_p.K530K|NAV1_ENST00000367300.3_Silent_p.K530K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	530					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTTCCCTGAAGAAGGGCAAGA	0.562000													31	37					0	0	0.008361	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874773	144874773	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:144874773A>C	ENST00000369359.4	-	33	5281	c.5243T>G	c.(5242-5244)tTc>tGc	p.F1748C	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.F1748C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.F1612C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.F1612C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.F1568C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1612					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCAGACAGGAAAGAGGTGCT	0.552000			T	PDGFRB	MPD								33	334					0	0	0.003755	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209150622	209150622	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:209150622T>C	ENST00000264380.4	+	6	944	c.786T>C	c.(784-786)cgT>cgC	p.R262R	PIKFYVE_ENST00000407449.1_Silent_p.R262R|PIKFYVE_ENST00000308862.6_Silent_p.R176R|PIKFYVE_ENST00000392202.3_Silent_p.R165R	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	262					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGCCAGCCGTAACATATTTT	0.408000													17	65					0	0	0.007413	0	0
CDKAL1	54901	broad.mit.edu	37	6	21000535	21000535	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:21000535A>G	ENST00000274695.4	+	11	1154	c.987A>G	c.(985-987)gtA>gtG	p.V329V	CDKAL1_ENST00000378610.1_Silent_p.V329V|CDKAL1_ENST00000378624.4_Silent_p.V259V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	329					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCGACAGCGTACTCATGGAAA	0.388000													72	388					0	0	0.003610	0	0
KDM6B	23135	broad.mit.edu	37	17	7750137	7750137	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7750137A>G	ENST00000254846.5	+	9	1101	c.711_splice	c.e9-1	p.T238_splice	KDM6B_ENST00000448097.2_Splice_Site_p.T238_splice	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	238	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCTCTCCTAGACTGGCCTTCC	0.612000													13	39					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179610805	179610805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179610805C>T	ENST00000360870.5	-	46	16544	c.16322G>A	c.(16321-16323)cGa>cAa	p.R5441Q	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8948	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5441Q(1)		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)			ACAGACATTTCGAATTTTAAG	0.408000													52	96					0	0	0.003610	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454758	24454758	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:24454758C>T	ENST00000270800.1	-	5	581	c.543G>A	c.(541-543)ggG>ggA	p.G181G		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	181	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTCTCTGCTTCCCTCCAAGGT	0.532000													34	30					0	0	0.004878	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215371	140215371	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140215371A>G	ENST00000525929.1	+	1	1403	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.N468S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGAACAACCCGCCGGGC	0.672000													16	39					0	0	0.003163	0	0
EVPL	2125	broad.mit.edu	37	17	74005598	74005598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:74005598C>T	ENST00000301607.3	-	22	3941	c.3688G>A	c.(3688-3690)Gag>Aag	p.E1230K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1252K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1230	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTCCACCTCCTTCTCCACA	0.632000													27	47					0	0	0.005443	0	0
SNW1	22938	broad.mit.edu	37	14	78201324	78201324	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:78201324A>C	ENST00000261531.7	-	8	802	c.740T>G	c.(739-741)aTt>aGt	p.I247S	SNW1_ENST00000555761.1_Missense_Mutation_p.I247S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.I85S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	247	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACAAGGAGGAATCTTCCACTC	0.328000													24	135					0	0	0.002780	0	0
CCR3	1232	broad.mit.edu	37	3	46306942	46306942	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:46306942A>C	ENST00000357422.2	+	4	836	c.293A>C	c.(292-294)aAc>aCc	p.N98T	CCR3_ENST00000545097.1_Missense_Mutation_p.N119T|CCR3_ENST00000395942.2_Missense_Mutation_p.N98T|CCR3_ENST00000395940.2_Missense_Mutation_p.N98T|CCR3_ENST00000541018.1_Missense_Mutation_p.N98T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	98					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGGGGGCATAACTGGGTTTTT	0.493000													83	148					0	0	0.003610	0	0
DOT1L	84444	broad.mit.edu	37	19	2226269	2226269	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:2226269A>G	ENST00000398665.3	+	27	3785	c.3749A>G	c.(3748-3750)gAc>gGc	p.D1250G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTCCGACATCGGCCTG	0.677000													3	22					0	0	0.004672	0	0
HGS	9146	broad.mit.edu	37	17	79658481	79658481	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79658481A>G	ENST00000329138.4	+	8	677	c.542A>G	c.(541-543)cAc>cGc	p.H181R		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	181					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTACAGCACCACTGCCGGGCG	0.637000													12	60					0	0	0.001855	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564720	100564720	+	RNA	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100564720A>G	ENST00000397112.4	-	0	593					NR_036632.1															large_intestine(1)|lung(3)	4						CTCACCTGTAACTGCTCCCTT	0.478000													13	80					0	0	0.002450	0	0
ABCG1	9619	broad.mit.edu	37	21	43710232	43710232	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:43710232G>C	ENST00000398437.1	+	12	1919	c.1771G>C	c.(1771-1773)Ggg>Cgg	p.G591R	ABCG1_ENST00000347800.2_Missense_Mutation_p.G430R|ABCG1_ENST00000398457.2_Missense_Mutation_p.G435R|ABCG1_ENST00000340588.4_Missense_Mutation_p.G553R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Missense_Mutation_p.G445R|ABCG1_ENST00000398449.3_Missense_Mutation_p.G433R|ABCG1_ENST00000343687.3_Missense_Mutation_p.G444R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	445	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.G445R(1)|p.G435R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTTGGGGATCGGGAACGAAGC	0.567000													15	74					0	0	0.004007	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368810	37368810	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:37368810A>G	ENST00000361924.2	+	14	5807	c.5433A>G	c.(5431-5433)atA>atG	p.I1811M	GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1833M|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1811	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTCCTTGATAGTAGCCCAGC	0.388000													5	74					0	0	0.000602	0	0
STAU1	6780	broad.mit.edu	37	20	47740945	47740945	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47740945A>G	ENST00000371828.3	-	7	1051	c.564T>C	c.(562-564)ccT>ccC	p.P188P	STAU1_ENST00000347458.5_Silent_p.P182P|STAU1_ENST00000371792.1_Silent_p.P182P|STAU1_ENST00000340954.7_Silent_p.P182P|STAU1_ENST00000371856.2_Silent_p.P263P|STAU1_ENST00000371802.1_Silent_p.P188P|STAU1_ENST00000360426.4_Silent_p.P182P	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	263	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTTTGATTCTAGGCTTTACTC	0.423000													39	224					0	0	0.002222	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	73					0	0	0.006230	0	0
OR51T1	401665	broad.mit.edu	37	11	4903778	4903778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4903778C>T	ENST00000380378.1	+	1	730	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.L217F|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGTTTATTCTTTTCTCCTA	0.448000													29	27					0	0	0.008361	0	0
ZNF132	7691	broad.mit.edu	37	19	58944838	58944838	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:58944838A>G	ENST00000254166.3	-	3	2373	c.1973T>C	c.(1972-1974)aTc>aCc	p.I658T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	658						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCCACACTGGATGCACTCATA	0.478000													5	24					0	0	0.000602	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development	integral to membrane	hedgehog receptor activity	p.F208F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632000													45	33					0	0	0.003610	0	0
PRRT3	285368	broad.mit.edu	37	3	9990874	9990874	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:9990874T>C	ENST00000412055.1	-	2	1055	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	PRRT3_ENST00000411976.2_Missense_Mutation_p.Q309R|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	309	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AAGGTCAGCCTGCTTGGGCGG	0.642000													31	84					0	0	0.002836	0	0
IPO7	10527	broad.mit.edu	37	11	9459719	9459719	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:9459719T>C	ENST00000379719.3	+	22	2724	c.2582T>C	c.(2581-2583)aTt>aCt	p.I861T		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	861					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGGACAGATTTTGCCGGCT	0.388000													58	144					0	0	0.003610	0	0
VWA8	23078	broad.mit.edu	37	13	42144660	42144660	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:42144660G>A	ENST00000379310.3	-	44	5621	c.5553C>T	c.(5551-5553)gaC>gaT	p.D1851D		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTACTTGAGGGTCTCTTGTGA	0.403000													22	79					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179569003	179569003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179569003C>T	ENST00000589042.1	-	106	30318	c.30094G>A	c.(30094-30096)Ggt>Agt	p.G10032S	TTN_ENST00000342992.6_Missense_Mutation_p.G8788S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9715S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9715	Glu-rich.						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)			TTATGTCTACCTTGGGGTTTA	0.418000													41	95					0	0	0.007835	0	0
BCL7B	9275	broad.mit.edu	37	7	72957930	72957930	+	Missense_Mutation	SNP	A	A	C	rs138796659		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:72957930A>C	ENST00000223368.2	-	3	636	c.213T>G	c.(211-213)aaT>aaG	p.N71K	BCL7B_ENST00000411832.1_Missense_Mutation_p.N71K|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	71							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGGAAAGCCATTAGGTTCTC	0.443000													21	424					0	0	0.002780	0	0
ABCA6	23460	broad.mit.edu	37	17	67079155	67079155	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:67079155C>T	ENST00000284425.2	-	36	4650		c.e36-1		ABCA6_ENST00000446604.2_Splice_Site	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						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)					GCCAATGCATCTATGGGCAAG	0.358000													73	195					0	0	0.003610	0	0
ATP4A	495	broad.mit.edu	37	19	36051443	36051443	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36051443C>T	ENST00000262623.3	-	6	637	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	203					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACCTTTCATCTCCACCAGGT	0.617000													16	27					0	0	0.004007	0	0
SRPR	6734	broad.mit.edu	37	11	126136122	126136122	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:126136122A>G	ENST00000332118.6	-	7	1046	c.892T>C	c.(892-894)Tct>Cct	p.S298P	SRPR_ENST00000532259.1_Missense_Mutation_p.S270P	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	298					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCGTCATCAGAGCTGCTGCAG	0.522000													16	76					0	0	0.008871	0	0
DPPA5	340168	broad.mit.edu	37	6	74063664	74063664	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:74063664G>A	ENST00000370370.3	-	2	273	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	68	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CGTAAACCACGACCTCGGTGA	0.607000													18	39					0	0	0.008871	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325641	99325641	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:99325641A>G	ENST00000408927.3	+	7	764	c.651A>G	c.(649-651)gaA>gaG	p.E217E	RAP1GDS1_ENST00000380158.4_Silent_p.E169E|RAP1GDS1_ENST00000339360.5_Silent_p.E218E|RAP1GDS1_ENST00000453712.2_Silent_p.E218E|RAP1GDS1_ENST00000264572.7_Silent_p.E126E|RAP1GDS1_ENST00000408900.3_Silent_p.E168E	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	217							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAAGTAAAGAACAGTTTGCCA	0.289000			T	NUP98	T-ALL								8	62					0	0	0.003080	0	0
TRHDE	29953	broad.mit.edu	37	12	72969158	72969158	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:72969158G>C	ENST00000261180.4	+	11	2216	c.2120G>C	c.(2119-2121)cGg>cCg	p.R707P	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAATTAATCCGGAATCATGAG	0.338000													10	66					0	0	0.008291	0	0
P4HB	5034	broad.mit.edu	37	17	79805189	79805189	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79805189A>G	ENST00000331483.4	-	5	881	c.659T>C	c.(658-660)gTc>gCc	p.V220A	P4HB_ENST00000439918.2_Missense_Mutation_p.V176A|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	220					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTCCTTGGTGACCTCCCCTTC	0.602000													11	74					0	0	0.001855	0	0
IFT122	55764	broad.mit.edu	37	3	129221661	129221661	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129221661A>G	ENST00000296266.3	+	21	2828	c.2636A>G	c.(2635-2637)tAc>tGc	p.Y879C	IFT122_ENST00000507564.1_Missense_Mutation_p.Y820C|IFT122_ENST00000349441.2_Missense_Mutation_p.Y717C|IFT122_ENST00000348417.2_Missense_Mutation_p.Y828C|IFT122_ENST00000347300.2_Missense_Mutation_p.Y769C|IFT122_ENST00000431818.2_Missense_Mutation_p.Y678C|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.Y704C|IFT122_ENST00000440957.2_Missense_Mutation_p.Y619C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	828					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTGAGACCTACCTGAAGATG	0.632000													25	35					0	0	0.003954	0	0
LOXL3	84695	broad.mit.edu	37	2	74763910	74763910	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:74763910T>C	ENST00000264094.3	-	5	909	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.S280G|LOXL3_ENST00000409249.1_Missense_Mutation_p.S280G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	280	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGCACACAGCTCACCACTGCA	0.627000													16	97					0	0	0.004007	0	0
IFT81	28981	broad.mit.edu	37	12	110600794	110600794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:110600794G>A	ENST00000242591.5	+	11	1618	c.1112G>A	c.(1111-1113)aGc>aAc	p.S371N	IFT81_ENST00000361948.4_Missense_Mutation_p.S371N|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000552912.1_Missense_Mutation_p.S371N	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	371					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAGTTAGCCAGCCTAGAGAGA	0.423000													8	55					0	0	0.003080	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490215	27490215	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:27490215T>C	ENST00000295736.5	-	3	259	c.189A>G	c.(187-189)ggA>ggG	p.G63G	SLC4A7_ENST00000446700.1_Silent_p.G68G|SLC4A7_ENST00000445684.1_Silent_p.G72G|SLC4A7_ENST00000455077.1_Silent_p.G68G|SLC4A7_ENST00000454389.1_Silent_p.G72G|SLC4A7_ENST00000440156.1_Silent_p.G72G|SLC4A7_ENST00000425128.2_Silent_p.G68G|SLC4A7_ENST00000435667.2_Silent_p.G72G|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000437179.1_Silent_p.G68G|SLC4A7_ENST00000428386.1_Silent_p.G63G	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	63						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GATGTTTGTGTCCGCGATGCC	0.403000													14	64					0	0	0.001855	0	0
TIMM44	10469	broad.mit.edu	37	19	7992167	7992167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:7992167C>T	ENST00000270538.3	-	13	1532	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	422					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						AGCGCCCACACGTACAGCATC	0.662000													13	47					0	0	0.003163	0	0
CXXC5	51523	broad.mit.edu	37	5	139060446	139060446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:139060446C>T	ENST00000302517.3	+	2	1052	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CXXC5_ENST00000511048.1_Missense_Mutation_p.S113F	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCTGCCTCCCTGTTGGCC	0.617000													50	43					0	0	0.003610	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669426	92669426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:92669426C>T	ENST00000318445.6	+	6	1524	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S437F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	437					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)			TGCTACGTCTCCTTCCTCTTC	0.587000													19	59					0	0	0.007413	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131801938	131801938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:131801938G>A	ENST00000392953.3	+	12	2185	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D556N|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.D556N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D485N|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D496N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	556	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGAGGTGGTGGACCTGGAGGA	0.652000													4	15					0	0	0.000248	0	0
NOS1	4842	broad.mit.edu	37	12	117726018	117726018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:117726018C>T	ENST00000317775.6	-	5	1673	c.988G>A	c.(988-990)Gga>Aga	p.G330R	NOS1_ENST00000344089.3_Silent_p.R348R|NOS1_ENST00000338101.4_Missense_Mutation_p.G330R	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	330					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGTGCATCCCGTTTCCTGG	0.517000													25	64					0	0	0.008361	0	0
STAG2	10735	broad.mit.edu	37	X	123200074	123200074	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:123200074T>G	ENST00000371160.1	+	22	2436	c.2146T>G	c.(2146-2148)Ttg>Gtg	p.L716V	STAG2_ENST00000371144.3_Missense_Mutation_p.L716V|STAG2_ENST00000371157.3_Missense_Mutation_p.L716V|STAG2_ENST00000371145.3_Missense_Mutation_p.L716V|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L716V|STAG2_ENST00000354548.5_Missense_Mutation_p.L647V			Q8N3U4	STAG2_HUMAN	stromal antigen 2	716					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTACAAACTCTTGAAAACTGG	0.274000													24	72					0	0	0.003330	0	0
FEM1B	10116	broad.mit.edu	37	15	68583223	68583223	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:68583223T>C	ENST00000306917.4	+	2	2142	c.1527T>C	c.(1525-1527)ttT>ttC	p.F509F		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	509					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGCAGCTTTCCAAATGCAC	0.478000													29	153					0	0	0.002096	0	0
ESYT1	23344	broad.mit.edu	37	12	56524849	56524849	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56524849T>C	ENST00000394048.5	+	4	857	c.593T>C	c.(592-594)gTt>gCt	p.V198A	ESYT1_ENST00000541590.1_Missense_Mutation_p.V198A|ESYT1_ENST00000267113.4_Missense_Mutation_p.V198A	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	198						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGTCAAGGTTCACCCAGGT	0.512000													5	36					0	0	0.001168	0	0
STK11	6794	broad.mit.edu	37	19	1220689	1220689	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1220689T>C	ENST00000326873.7	+	5	1880	c.707T>C	c.(706-708)gTg>gCg	p.V236A		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	236	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCAAGGTGGACATCTGG	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	23					0	0	0.006214	0	0
KRT4	3851	broad.mit.edu	37	12	53202189	53202189	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53202189C>T	ENST00000293774.4	-	6	1506	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	KRT4_ENST00000458244.2_Silent_p.Q318Q|KRT4_ENST00000551956.1_Silent_p.Q338Q			B4DRS2	B4DRS2_HUMAN	keratin 4	338						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAACCGAGATCTGGAGCTGCT	0.502000													27	46					0	0	0.001786	0	0
LRIT3	345193	broad.mit.edu	37	4	110788812	110788812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:110788812C>T	ENST00000327908.3	+	3	820	c.56C>T	c.(55-57)cCt>cTt	p.P19L	LRIT3_ENST00000379920.3_Missense_Mutation_p.P157L|LRIT3_ENST00000409621.2_Missense_Mutation_p.P19L|LRIT3_ENST00000594814.1_Missense_Mutation_p.P202L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	157						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGACAATCCTTGGTTCTGT	0.423000													18	23					0	0	0.008871	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276662	185276662	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:185276662T>A	ENST00000367498.3	-	6	1112	c.490A>T	c.(490-492)Att>Ttt	p.I164F	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	164	BACK.|Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCTTCAGAAATTTGTAACAAA	0.388000													9	82					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9046787	9046787	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9046787C>G	ENST00000397910.4	-	5	35047	c.34844G>C	c.(34843-34845)aGg>aCg	p.R11615T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11617	Thr-rich.				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						AACACCTGACCTCGTGTCTAC	0.507000													23	50					0	0	0.002299	0	0
STK4	6789	broad.mit.edu	37	20	43615861	43615861	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:43615861T>C	ENST00000372806.3	+	5	544	c.449T>C	c.(448-450)aTc>aCc	p.I150T	STK4_ENST00000396731.4_Missense_Mutation_p.I150T|STK4_ENST00000499879.2_Intron|STK4_ENST00000372801.1_Missense_Mutation_p.I150T	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	150	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CACCGAGATATCAAGGCAGGA	0.313000													14	93					0	0	0.001855	0	0
SPEF2	79925	broad.mit.edu	37	5	35792479	35792479	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:35792479C>T	ENST00000440995.2	+	31	4470	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	SPEF2_ENST00000356031.3_Silent_p.I1495I|SPEF2_ENST00000303129.4_Silent_p.I292I|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1495					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATTCTGATCGATTTGGTGA	0.358000													35	59					0	0	0.003271	0	0
NUMB	8650	broad.mit.edu	37	14	73749086	73749086	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:73749086T>C	ENST00000556772.1	-	5	2932	c.645A>G	c.(643-645)ccA>ccG	p.P215P	NUMB_ENST00000560335.1_Silent_p.P261P|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Silent_p.P348P|NUMB_ENST00000555394.1_Silent_p.P359P|NUMB_ENST00000555738.2_Silent_p.P250P|NUMB_ENST00000555238.1_Silent_p.P359P|NUMB_ENST00000554546.1_Silent_p.P348P|NUMB_ENST00000355058.3_Silent_p.P359P|NUMB_ENST00000359560.3_Silent_p.P348P|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Silent_p.P348P|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000356296.4_Silent_p.P359P|NUMB_ENST00000454166.4_Silent_p.P261P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	359					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		taggagattgtggtgccacca	0.512000													4	47					0	0	0.000248	0	0
CDH7	1005	broad.mit.edu	37	18	63481720	63481720	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:63481720G>A	ENST00000536984.2	+	4	1199		c.e4-1		CDH7_ENST00000397968.2_Splice_Site|CDH7_ENST00000323011.3_Splice_Site			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGGCATCTAGGGACCTCAGT	0.408000													34	61					0	0	0.006999	0	0
ZNF506	440515	broad.mit.edu	37	19	19905427	19905427	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:19905427T>C	ENST00000443905.2	-	4	1416	c.1269A>G	c.(1267-1269)aaA>aaG	p.K423K	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Silent_p.K391K|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Silent_p.K423K|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CTATGCAGGGTTTCTGTCTAA	0.348000													8	49					0	0	0.004482	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479097	32479097	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:32479097A>G	ENST00000266088.4	+	7	870	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	SLC5A1_ENST00000543737.1_Missense_Mutation_p.Q80R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	207					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACACCTTGCAGACGGTGATC	0.582000													8	39					0	0	0.008291	0	0
ADCY1	107	broad.mit.edu	37	7	45717529	45717529	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:45717529T>C	ENST00000297323.7	+	9	1689	c.1667T>C	c.(1666-1668)gTt>gCt	p.V556A		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTACCAACGTTGTCTACACC	0.507000													15	89					0	0	0.004990	0	0
ZNF746	155061	broad.mit.edu	37	7	149171731	149171731	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:149171731T>C	ENST00000340622.3	-	7	1959	c.1679A>G	c.(1678-1680)cAc>cGc	p.H560R	ZNF746_ENST00000458143.2_Missense_Mutation_p.H561R			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	560					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACGCCCGTGTGCGTTCGGTA	0.657000													5	64					0	0	0.001168	0	0
TM9SF2	9375	broad.mit.edu	37	13	100169902	100169902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:100169902C>T	ENST00000376387.4	+	2	396	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	69					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGACTTGATTCAGTGGAATCA	0.323000													26	24					0	0	0.006320	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197308	1197308	+	Missense_Mutation	SNP	G	G	A	rs111354345	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:1197308G>A	ENST00000401903.1	-	3	393	c.134C>T	c.(133-135)cCg>cTg	p.P45L	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P45L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	45						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAATGCAAACGGACACTTATG	0.388000													70	212					0	0	0.003610	0	0
MTHFD1	4522	broad.mit.edu	37	14	64884744	64884744	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:64884744T>C	ENST00000555709.1	+	7	1002		c.e7+2		MTHFD1_ENST00000545908.1_Splice_Site|MTHFD1_ENST00000216605.7_Splice_Site|MTHFD1_ENST00000555252.1_Splice_Site	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GATGAGGAGGTAGGGTGTCCA	0.542000													8	58					0	0	0.004482	0	0
EPHB6	2051	broad.mit.edu	37	7	142562173	142562173	+	Silent	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142562173C>G	ENST00000392957.2	+	7	1402	c.615C>G	c.(613-615)acC>acG	p.T205T	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.T205T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	205						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)					GGCCTCTCACCCAACGCGGCT	0.662000													40	433					0	0	0.006230	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677000													23	42					0	0	0.002299	0	0
GOLGA5	9950	broad.mit.edu	37	14	93276680	93276680	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:93276680T>C	ENST00000163416.2	+	5	1330	c.1074T>C	c.(1072-1074)gaT>gaC	p.D358D	GOLGA5_ENST00000355976.2_Silent_p.D358D	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	358					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATGAAGCGGATGCCACTCTGA	0.423000			T	RET	papillary thyroid								5	18					0	0	0.000602	0	0
FOXM1	2305	broad.mit.edu	37	12	2975601	2975601	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:2975601G>A	ENST00000342628.2	-	5	1046	c.933C>T	c.(931-933)caC>caT	p.H311H	FOXM1_ENST00000361953.3_Silent_p.H311H|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Silent_p.H311H	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	311					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCACTGGGGTGAATGGTCC	0.522000													16	38					0	0	0.004990	0	0
SCRIB	23513	broad.mit.edu	37	8	144877243	144877243	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144877243G>C	ENST00000356994.2	-	27	3817	c.3811C>G	c.(3811-3813)Ctg>Gtg	p.L1271V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L1190V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L1271V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1271					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGCGGCCAGGGCGCGGTAG	0.697000													7	32					0	0	0.001984	0	0
VAV2	7410	broad.mit.edu	37	9	136654406	136654406	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:136654406G>A	ENST00000371851.1	-	13	1558	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	VAV2_ENST00000406606.3_Silent_p.S411S|VAV2_ENST00000371850.3_Silent_p.S416S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	416	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGTTGACTATGGACCGGACTT	0.617000													46	119					0	0	0.003610	0	0
RB1	5925	broad.mit.edu	37	13	48934160	48934160	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:48934160A>G	ENST00000267163.4	+	7	753	c.615A>G	c.(613-615)gtA>gtG	p.V205V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	205					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGGGAAGTATTACAAATGG	0.318000		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)			8	46					0	0	0.003080	0	0
HEATR3	55027	broad.mit.edu	37	16	50138886	50138886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:50138886C>T	ENST00000299192.7	+	15	2148	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Nonsense_Mutation_p.Q567*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	653							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TAGCACAGATCAGCTGTGTGT	0.303000													32	68					0	0	0.002836	0	0
CHPF2	54480	broad.mit.edu	37	7	150932236	150932236	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150932236T>C	ENST00000035307.2	+	2	1879	c.366T>C	c.(364-366)cgT>cgC	p.R122R	CHPF2_ENST00000495645.1_Silent_p.R114R	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	122						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTGTGAACCGTACGGTGGCCC	0.642000													18	174					0	0	0.001523	0	0
CGNL1	84952	broad.mit.edu	37	15	57838288	57838288	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:57838288G>A	ENST00000281282.5	+	18	3702	c.3624G>A	c.(3622-3624)ttG>ttA	p.L1208L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1208						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTTGCGTTTGAAAGCCATGA	0.592000													6	14					0	0	0.004482	0	0
OAS3	4940	broad.mit.edu	37	12	113405855	113405855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:113405855G>A	ENST00000228928.7	+	14	3159	c.2980G>A	c.(2980-2982)Ggc>Agc	p.G994S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	994	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CATGGCTGAGGGCTTCCGCAC	0.597000													17	45					0	0	0.004990	0	0
KIAA0513	9764	broad.mit.edu	37	16	85105396	85105396	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:85105396T>C	ENST00000566428.1	+	3	968	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	KIAA0513_ENST00000567328.1_Silent_p.L113L|KIAA0513_ENST00000258180.3_Silent_p.L113L|KIAA0513_ENST00000538274.1_Silent_p.L113L			O60268	K0513_HUMAN	KIAA0513	113						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		tAGGGAGGACTTGGATCAGGA	0.463000													4	21					0	0	0.000248	0	0
SIAE	54414	broad.mit.edu	37	11	124517267	124517267	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:124517267A>G	ENST00000263593.3	-	7	1132	c.960T>C	c.(958-960)ctT>ctC	p.L320L	SIAE_ENST00000545756.1_Silent_p.L285L			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	320						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GTACCTGGACAAGTCCAAATG	0.507000													22	17					0	0	0.002780	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502728	118502728	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118502728T>C	ENST00000361417.2	+	9	2610	c.2199T>C	c.(2197-2199)cgT>cgC	p.R733R	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.R733R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	733										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAAGGTCCGTGTGAAGGAGC	0.617000													8	29					0	0	0.004482	0	0
NOX5	79400	broad.mit.edu	37	15	69325546	69325546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:69325546G>A	ENST00000260364.5	+	6	1031	c.730G>A	c.(730-732)Gac>Aac	p.D244N	NOX5_ENST00000530406.2_Missense_Mutation_p.D234N|NOX5_ENST00000388866.3_Missense_Mutation_p.D262N|NOX5_ENST00000448182.3_Missense_Mutation_p.D216N|NOX5_ENST00000455873.3_Missense_Mutation_p.D227N			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	262					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGCGCACCGGGACCTCGGCGC	0.682000													11	20					0	0	0.000978	0	0
DUSP21	63904	broad.mit.edu	37	X	44703829	44703829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:44703829G>A	ENST00000339042.4	+	1	581	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	151	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGGCTTTTGGGAACAGCTCAT	0.517000													18	18					0	0	0.007413	0	0
SIAE	54414	broad.mit.edu	37	11	124517266	124517266	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:124517266C>A	ENST00000263593.3	-	7	1133	c.961G>T	c.(961-963)Gtc>Ttc	p.V321F	SIAE_ENST00000545756.1_Missense_Mutation_p.V286F			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	321						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGTACCTGGACAAGTCCAAAT	0.507000													22	18					6.44725e-10	1.09946e-09	0.002299	1	0
CLN3	1201	broad.mit.edu	37	16	28493470	28493470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28493470G>A	ENST00000569430.1	-	15	1831	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	CLN3_ENST00000395653.4_Missense_Mutation_p.R238C|CLN3_ENST00000357076.5_Missense_Mutation_p.R228C|CLN3_ENST00000333496.9_Missense_Mutation_p.R314C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R321C|CLN3_ENST00000355477.5_Missense_Mutation_p.R290C|CLN3_ENST00000357806.7_Missense_Mutation_p.R239C|CLN3_ENST00000535392.1_Missense_Mutation_p.R260C|CLN3_ENST00000359984.7_Missense_Mutation_p.R338C|CLN3_ENST00000354630.5_Missense_Mutation_p.R321C|CLN3_ENST00000357857.9_Missense_Mutation_p.R284C|CLN3_ENST00000360019.2_Missense_Mutation_p.R338C|CLN3_ENST00000568224.1_Missense_Mutation_p.R260C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	338					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CGACAGCAGCGGAGAGAAGAG	0.642000													8	15					0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	50278479	50278479	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:50278479C>T	ENST00000442544.2	+	2	763	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	49	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCTGATGCCGTCACAATGC	0.483000													15	18					0	0	0.003163	0	0
GOLGA3	2802	broad.mit.edu	37	12	133365873	133365873	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:133365873T>C	ENST00000204726.3	-	13	3109	c.2551A>G	c.(2551-2553)Atg>Gtg	p.M851V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.M851V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.M851V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.M851V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.M851V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	851					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCTCCACCATCACCTGCCAA	0.617000													3	21					0	0	0.004672	0	0
SRCAP	10847	broad.mit.edu	37	16	30727652	30727652	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30727652T>C	ENST00000262518.4	+	18	3054	c.2669T>C	c.(2668-2670)gTc>gCc	p.V890A	SRCAP_ENST00000344771.4_Missense_Mutation_p.V890A|SRCAP_ENST00000395059.2_Missense_Mutation_p.V890A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	890					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTCATGAGCGTCATCAACATT	0.478000													46	166					0	0	0.003214	0	0
EMCN	51705	broad.mit.edu	37	4	101368726	101368726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:101368726C>T	ENST00000296420.4	-	5	557	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EMCN_ENST00000511970.1_Intron|EMCN_ENST00000305864.3_Missense_Mutation_p.E127K|EMCN_ENST00000502327.1_5'UTR	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	127	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CTCTGAGTTTCAGCTTTAGAA	0.289000													6	30					0	0	0.001168	0	0
ADD2	119	broad.mit.edu	37	2	70933562	70933562	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:70933562C>T	ENST00000430656.1	-	2	324	c.27G>A	c.(25-27)gcG>gcA	p.A9A	ADD2_ENST00000407644.2_5'UTR|ADD2_ENST00000264436.3_5'UTR|ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000473232.1_5'UTR|ADD2_ENST00000355733.3_5'UTR	NM_001185055.1	NP_001171984.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTTTGCAATTCGCTCCTGGAA	0.612000													46	64					0	0	0.003610	0	0
NLRC3	197358	broad.mit.edu	37	16	3600437	3600437	+	RNA	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:3600437C>T	ENST00000301749.7	-	0	2817				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCCTGGTTCACCTTCAGGG	0.572000													10	23					0	0	0.001368	0	0
LCE2C	353140	broad.mit.edu	37	1	152648729	152648729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152648729C>T	ENST00000368783.1	+	2	293	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	80	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCCCGTCTCTTCCACCG	0.687000													14	66					0	0	0.002450	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361548	99361548	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:99361548T>C	ENST00000354593.2	-	5	609	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	CYP3A4_ENST00000336411.2_Missense_Mutation_p.Y319C			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	319					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCAGTTCATACATAATGAA	0.468000													6	38					0	0	0.001168	0	0
VNN2	8875	broad.mit.edu	37	6	133072294	133072294	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:133072294T>C	ENST00000326499.6	-	5	1314	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G	VNN2_ENST00000525270.1_Missense_Mutation_p.E344G|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	397					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGCCAGTACTCTCTTCTCCT	0.373000													6	83					0	0	0.004482	0	0
POTEH	23784	broad.mit.edu	37	22	16267094	16267094	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:16267094A>G	ENST00000343518.6	-	9	1406	c.1353_splice	c.e9-1	p.V452_splice		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	452										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTTCTTCAACCTTGAATGA	0.333000													35	304					0	0	0.003610	0	0
F11R	50848	broad.mit.edu	37	1	160969507	160969507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:160969507G>A	ENST00000368026.6	-	7	999	c.725C>T	c.(724-726)gCc>gTc	p.A242V	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.A193V	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	242					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TACAAGGACGGCTGCCACGAT	0.532000													17	28					0	0	0.001523	0	0
NID2	22795	broad.mit.edu	37	14	52481829	52481829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:52481829C>T	ENST00000216286.5	-	15	3192	c.3193G>A	c.(3193-3195)Gac>Aac	p.D1065N	NID2_ENST00000541773.1_Missense_Mutation_p.D964N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1065	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCATCTTTGTCCACACACCAG	0.652000													9	19					0	0	0.006214	0	0
OR51G1	79324	broad.mit.edu	37	11	4945494	4945494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4945494G>A	ENST00000321961.2	-	1	143	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCAGCCATGGAGACCTTCT	0.463000													18	15					0	0	0.008871	0	0
FAM47B	170062	broad.mit.edu	37	X	34962049	34962049	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:34962049G>A	ENST00000329357.5	+	1	1137	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	367										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTGAGGGCCAGGAGATGACAA	0.547000													12	7					0	0	0.003163	0	0
GLP1R	2740	broad.mit.edu	37	6	39033977	39033977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:39033977C>T	ENST00000373256.4	+	5	450	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	136				SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCACAGAGCTCCCCGGAGGAG	0.602000													6	32					0	0	0.001168	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772944	5772944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5772944G>A	ENST00000381624.3	+	20	1970	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	637						integral to membrane											CATGATAAAGGAATTCGGGGG	0.572000													17	22					0	0	0.007413	0	0
IL25	64806	broad.mit.edu	37	14	23844966	23844966	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23844966G>A	ENST00000329715.2	+	2	669	c.411G>A	c.(409-411)caG>caA	p.Q137Q	IL25_ENST00000397242.2_Silent_p.Q121Q	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	137					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCACAACCAGACTGTCTTCT	0.627000													22	48					0	0	0.002780	0	0
LRFN3	79414	broad.mit.edu	37	19	36430468	36430468	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36430468G>A	ENST00000588831.1	+	3	1195	c.141G>A	c.(139-141)ggG>ggA	p.G47G	LRFN3_ENST00000246529.3_Silent_p.G47G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	47	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGCCCAGGGGCAGGCCTCC	0.721000													5	9					0	0	0.000602	0	0
DMXL2	23312	broad.mit.edu	37	15	51790919	51790919	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:51790919T>C	ENST00000251076.5	-	18	4789	c.4502A>G	c.(4501-4503)tAt>tGt	p.Y1501C	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.Y1501C|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1501						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGCTGGTCCATATTGAGAAAG	0.388000													14	45					0	0	0.001855	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423954	33423954	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:33423954A>G	ENST00000395064.2	+	2	1345	c.1077A>G	c.(1075-1077)ggA>ggG	p.G359G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	359	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGGGTGGAGGACCTGGGGGAG	0.607000													3	20					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9086883	9086883	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9086883G>A	ENST00000397910.4	-	1	5135	c.4932C>T	c.(4930-4932)acC>acT	p.T1644T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1644	Ser-rich.|Thr-rich.				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						CTATGCCCAGGGTGACTCCAC	0.512000													39	61					0	0	0.007835	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692118	31692118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:31692118G>A	ENST00000360542.3	-	1	489	c.236C>T	c.(235-237)tCt>tTt	p.S79F		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	79						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGAACCGCAAGAGGTTTCAAG	0.537000													40	90					0	0	0.007835	0	0
C3orf20	84077	broad.mit.edu	37	3	14744696	14744696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14744696C>T	ENST00000253697.3	+	6	1257	c.805C>T	c.(805-807)Cct>Tct	p.P269S	C3orf20_ENST00000412910.1_Missense_Mutation_p.P147S|C3orf20_ENST00000435614.1_Missense_Mutation_p.P147S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	269						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTGGGAACCCCTGCCAACAG	0.592000													42	132					0	0	0.007835	0	0
TRRAP	8295	broad.mit.edu	37	7	98529167	98529167	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:98529167A>G	ENST00000359863.4	+	26	3940	c.3731A>G	c.(3730-3732)gAc>gGc	p.D1244G	TRRAP_ENST00000355540.3_Missense_Mutation_p.D1244G|TRRAP_ENST00000446306.3_Missense_Mutation_p.D1243G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1244					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGACACACGACTTGGTTCGA	0.562000													5	28					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92564897	92564897	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:92564897G>A	ENST00000298047.6	+	13	9608	c.9591G>A	c.(9589-9591)caG>caA	p.Q3197Q	FAT3_ENST00000525166.1_Silent_p.Q3047Q|FAT3_ENST00000409404.2_Silent_p.Q3197Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3197	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCGTGAGCAGCAGTCTTCGT	0.562000										TCGA Ovarian(4;0.039)			6	218					0	0	0.001984	0	0
SPRY3	10251	broad.mit.edu	37	X	155003646	155003646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:155003646C>T	ENST00000302805.2	+	2	544	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	38					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTAAACAGGCCCTCTCCAGC	0.522000													58	53					0	0	0.003610	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209198163	209198163	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:209198163T>C	ENST00000264380.4	+	24	4246	c.4088T>C	c.(4087-4089)aTc>aCc	p.I1363T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1363					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCACTCCATCCATCATGAT	0.433000													8	65					0	0	0.006214	0	0
OR4K1	79544	broad.mit.edu	37	14	20404621	20404621	+	Missense_Mutation	SNP	C	C	T	rs147347995		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:20404621C>T	ENST00000285600.4	+	1	855	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P266S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCAGACTTCCTGTGGACAA	0.413000													32	150					0	0	0.002096	0	0
ZNF831	128611	broad.mit.edu	37	20	57828170	57828170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:57828170G>A	ENST00000371030.2	+	4	4165	c.4165G>A	c.(4165-4167)Gaa>Aaa	p.E1389K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1389						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AATTGTCAGGGAAATGGACAA	0.463000													49	99					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152191823	152191823	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152191823T>G	ENST00000368801.2	-	3	2357	c.2282A>C	c.(2281-2283)cAa>cCa	p.Q761P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	761					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCGAAGATTGATGGGAGCC	0.582000													22	104					0	0	0.001882	0	0
DNAJB6	10049	broad.mit.edu	37	7	157159236	157159236	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:157159236A>G	ENST00000262177.4	+	4	421	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DNAJB6_ENST00000443280.1_Silent_p.G72G|DNAJB6_ENST00000429029.2_Silent_p.G72G|DNAJB6_ENST00000452797.2_Silent_p.G23G	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	72	Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAAAGAAGGATTAAATGGTG	0.373000													10	132					0	0	0.008291	0	0
MYF6	4618	broad.mit.edu	37	12	81101648	81101648	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:81101648G>A	ENST00000228641.3	+	1	372	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	50					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.P50P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATGCCCCCGGAAGCGGGGA	0.612000													18	45					0	0	0.007413	0	0
PI4KA	5297	broad.mit.edu	37	22	21068917	21068917	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:21068917T>C	ENST00000255882.6	-	46	5475	c.5390_splice	c.e46+1	p.S1797_splice	PI4KA_ENST00000414196.3_Splice_Site_p.S549_splice|PI4KA_ENST00000572273.1_Splice_Site_p.S1739_splice	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1739	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCGCCCACCTCTGCATCGGG	0.587000													3	38					0	0	0.000602	0	0
BANP	54971	broad.mit.edu	37	16	88052124	88052124	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:88052124T>C	ENST00000393207.1	+	7	943	c.722T>C	c.(721-723)aTc>aCc	p.I241T	BANP_ENST00000538234.1_Missense_Mutation_p.I249T|BANP_ENST00000286122.7_Missense_Mutation_p.I241T|BANP_ENST00000393208.2_Missense_Mutation_p.I210T|BANP_ENST00000355022.4_Missense_Mutation_p.I210T|BANP_ENST00000355163.5_Missense_Mutation_p.I216T|BANP_ENST00000479780.2_Missense_Mutation_p.I210T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	241	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ATGCTGCACATCAGCACCAAC	0.632000													4	17					0	0	0.000248	0	0
MXRA5	25878	broad.mit.edu	37	X	3241577	3241577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:3241577G>A	ENST00000217939.6	-	5	2303	c.2149C>T	c.(2149-2151)Cca>Tca	p.P717S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	717						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTCCTTTGGATGCAGAAGT	0.483000													29	13					0	0	0.005443	0	0
SUMO2	6613	broad.mit.edu	37	17	73164463	73164463	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73164463A>G	ENST00000420826.2	-	4	407	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	SUMO2_ENST00000578238.1_Missense_Mutation_p.F44L|SUMO2_ENST00000314523.7_Missense_Mutation_p.F63L	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	87	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TGCTGTTGGAACACATCAATT	0.348000													10	8					0	0	0.001855	0	0
NUAK2	81788	broad.mit.edu	37	1	205273083	205273083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:205273083G>A	ENST00000367157.3	-	7	1508	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	461					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCGGGAGAGGAGTAGTAGCC	0.637000													4	24					0	0	0.000248	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751350	26751350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:26751350C>T	ENST00000396641.2	+	2	779	c.187C>T	c.(187-189)Cct>Tct	p.P63S	LRRC3B_ENST00000456208.2_Missense_Mutation_p.P63S|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P63S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	63	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TAGAGATCTTCCTCCTGAAAC	0.428000													27	52					0	0	0.006320	0	0
SRPR	6734	broad.mit.edu	37	11	126136093	126136093	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:126136093A>G	ENST00000332118.6	-	7	1075	c.921T>C	c.(919-921)tcT>tcC	p.S307S	SRPR_ENST00000532259.1_Silent_p.S279S	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	307				NS -> TL (in Ref. 1; CAA29608).	SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TAGGTTTGGTAGAGTTTTGAG	0.502000													23	94					0	0	0.008361	0	0
LETM1	3954	broad.mit.edu	37	4	1818528	1818528	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:1818528G>A	ENST00000302787.2	-	12	2153	c.1857C>T	c.(1855-1857)atC>atT	p.I619I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	619					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCAAGCCATCGATCTGCCCGA	0.557000													23	31					0	0	0.001882	0	0
RAB15	376267	broad.mit.edu	37	14	65415205	65415205	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:65415205A>G	ENST00000533601.2	-	7	843	c.506T>C	c.(505-507)gTg>gCg	p.V169A	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Missense_Mutation_p.V123A|RAB15_ENST00000267512.5_3'UTR			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	169					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		GGCCTGCAGCACCAGCTCTGT	0.617000													7	75					0	0	0.003080	0	0
NRSN1	140767	broad.mit.edu	37	6	24145999	24145999	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:24145999T>C	ENST00000378491.4	+	4	714	c.413T>C	c.(412-414)gTg>gCg	p.V138A		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	138				V -> A (in Ref. 1; AAL14639).	nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CTGATGTCGGTGTTTGTAAAG	0.493000													5	79					0	0	0.000602	0	0
JMJD1C	221037	broad.mit.edu	37	10	64954067	64954067	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:64954067T>C	ENST00000399262.2	-	14	5931	c.5713A>G	c.(5713-5715)Acc>Gcc	p.T1905A	JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1686A|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1723A|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1905					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATAATTTGGGTTGGCATTAAA	0.348000													11	67					0	0	0.008291	0	0
NLRP5	126206	broad.mit.edu	37	19	56515263	56515263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:56515263G>A	ENST00000390649.3	+	2	244	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	82	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACATTCAAGGAATTACTAAA	0.428000													27	45					0	0	0.005443	0	0
LRIT3	345193	broad.mit.edu	37	4	110791135	110791135	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:110791135C>T	ENST00000327908.3	+	4	1445	c.681C>T	c.(679-681)ttC>ttT	p.F227F	LRIT3_ENST00000379920.3_Silent_p.F365F|LRIT3_ENST00000409621.2_Silent_p.F227F|LRIT3_ENST00000594814.1_Silent_p.F410F			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	365	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctgcttccttctctttatctc	0.468000													24	54					0	0	0.002299	0	0
DEFB127	140850	broad.mit.edu	37	20	139425	139425	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:139425A>G	ENST00000382388.3	+	2	135	c.60A>G	c.(58-60)caA>caG	p.Q20Q		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	20					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TAACCGAACAACTTAAGAAGT	0.413000													6	38					0	0	0.003080	0	0
ZNF516	9658	broad.mit.edu	37	18	74153867	74153867	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:74153867A>G	ENST00000443185.2	-	3	1461	c.1144T>C	c.(1144-1146)Ttc>Ctc	p.F382L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGAGGAAGAACTGCTTGGTG	0.721000													3	13					0	0	0.004672	0	0
JAG2	3714	broad.mit.edu	37	14	105621918	105621918	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:105621918T>C	ENST00000331782.3	-	5	1172	c.769A>G	c.(769-771)Acc>Gcc	p.T257A	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.T257A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	257	EGF-like 1.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCACGGTGCATCCCCCG	0.632000													8	74					0	0	0.001368	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040583	103040583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:103040583C>T	ENST00000264260.2	+	4	972	c.383C>T	c.(382-384)cCc>cTc	p.P128L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	128					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATTTGTAGACCCAAGATGATT	0.348000													30	45					0	0	0.008361	0	0
ANK3	288	broad.mit.edu	37	10	61829894	61829894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:61829894G>A	ENST00000280772.1	-	37	10936	c.10745C>T	c.(10744-10746)aCa>aTa	p.T3582I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3582					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCTGGCGTTGTATCAGGGGT	0.488000													13	50					0	0	0.001368	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904344	73904344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:73904344C>T	ENST00000342056.2	+	15	2461	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	KCNQ5_ENST00000370398.1_Missense_Mutation_p.S669F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S669F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S559F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S670F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S660F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S679F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	669					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTTCGGGTTCCGCACAAAAC	0.493000													42	88					0	0	0.003214	0	0
ATP5O	539	broad.mit.edu	37	21	35276277	35276277	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:35276277A>G	ENST00000290299.2	-	6	706	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TGACTTAGGAAGCTCTTGAGG	0.363000													5	64					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78808219	78808219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:78808219G>A	ENST00000376752.4	+	21	3170	c.2693G>A	c.(2692-2694)cGg>cAg	p.R898Q	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	898	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGTGCCAACGGAAGGTTCTT	0.428000													18	21					0	0	0.001523	0	0
SMARCD3	6604	broad.mit.edu	37	7	150937310	150937310	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150937310T>C	ENST00000392811.2	-	11	1496	c.1022A>G	c.(1021-1023)aAg>aGg	p.K341R	SMARCD3_ENST00000356800.2_Missense_Mutation_p.K341R|SMARCD3_ENST00000262188.8_Missense_Mutation_p.K354R	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	354					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACGCCGTCTTCTTCTGGTC	0.617000													8	68					0	0	0.000978	0	0
FAM47B	170062	broad.mit.edu	37	X	34962050	34962050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:34962050G>A	ENST00000329357.5	+	1	1138	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	368										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGAGGGCCAGGAGATGACAAC	0.547000													11	8					0	0	0.002450	0	0
ACPL2	92370	broad.mit.edu	37	3	141011642	141011642	+	Silent	SNP	C	C	T	rs145988315	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:141011642C>T	ENST00000508812.1	+	5	2918	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	ACPL2_ENST00000504264.1_Silent_p.L329L|ACPL2_ENST00000286353.4_Silent_p.L346L|ACPL2_ENST00000393010.2_Silent_p.L346L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.L330L|ACPL2_ENST00000502783.1_Silent_p.L308L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	346						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GGTATTCTCTCCTGGGTGCCC	0.522000													29	70					0	0	0.001786	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409703	69409703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:69409703G>A	ENST00000303714.4	+	16	1586	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	422					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAGATGCCGGAGCAGGAATA	0.463000									Familial Infantile Hemangioma				33	74					0	0	0.003755	0	0
RTN3	10313	broad.mit.edu	37	11	63487677	63487677	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:63487677A>G	ENST00000377819.5	+	3	1857	c.1703A>G	c.(1702-1704)cAg>cGg	p.Q568R	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.Q456R|RTN3_ENST00000339997.4_Missense_Mutation_p.Q549R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	568					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						CATCAAGATCAGCCTGATATT	0.418000													12	83					0	0	0.001855	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753987	140753987	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140753987A>G	ENST00000517434.1	+	1	337	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGGATAAACTGAATCT	0.483000													12	43					0	0	0.001368	0	0
GPR116	221395	broad.mit.edu	37	6	46830682	46830682	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:46830682C>T	ENST00000283296.7	-	15	2430	c.2142G>A	c.(2140-2142)gaG>gaA	p.E714E	GPR116_ENST00000362015.4_Silent_p.E714E|GPR116_ENST00000545669.1_Silent_p.E143E|GPR116_ENST00000456426.2_Silent_p.E572E|GPR116_ENST00000265417.7_Silent_p.E714E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	714					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCTCTTCTCCTCCCACTGGG	0.522000													49	116					0	0	0.003610	0	0
TTLL4	9654	broad.mit.edu	37	2	219603140	219603140	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:219603140C>T	ENST00000392102.1	+	3	1081	c.741C>T	c.(739-741)atC>atT	p.I247I	TTLL4_ENST00000457313.1_Silent_p.I82I|TTLL4_ENST00000442769.1_Silent_p.I247I|TTLL4_ENST00000258398.4_Silent_p.I247I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	247					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACCCAAGATCCAGCCTGTCT	0.537000													37	72					0	0	0.006999	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730341	37730341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:37730341G>A	ENST00000330843.4	-	4	1991	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	660					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCTGGAAAGGATGGCTGTTT	0.507000													54	34					0	0	0.003610	0	0
CPA5	93979	broad.mit.edu	37	7	130002796	130002796	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:130002796C>T	ENST00000485477.1	+	8	1837	c.708C>T	c.(706-708)ctC>ctT	p.L236L	CPA5_ENST00000393213.3_Silent_p.L236L|CPA5_ENST00000355388.3_Silent_p.L236L|CPA5_ENST00000474905.1_Silent_p.L236L|CPA5_ENST00000461828.1_Silent_p.L236L|CPA5_ENST00000431780.2_Silent_p.L236L|CPA5_ENST00000466363.2_Silent_p.L236L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	236					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCATAGAGCTCGTCACAAACC	0.512000													10	109					0	0	0.008291	0	0
RNF217	154214	broad.mit.edu	37	6	125404012	125404012	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:125404012T>A	ENST00000521654.2	+	6	1558	c.1558T>A	c.(1558-1560)Tta>Ata	p.L520I	RNF217_ENST00000368414.2_Missense_Mutation_p.L82I|RNF217_ENST00000560949.1_Missense_Mutation_p.L285I|RNF217_ENST00000359704.2_Missense_Mutation_p.F266Y|RNF217_ENST00000275184.6_Missense_Mutation_p.L164I			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATCCCTAGGTTTATTTGTATT	0.333000													12	7					0	0	0.001368	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692816	187692816	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:187692816C>T	ENST00000295131.2	-	9	1836	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	599					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTGTAATTTCCCCCATACAGT	0.343000													29	52					0	0	0.007291	0	0
GBX1	2636	broad.mit.edu	37	7	150845860	150845860	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150845860A>G	ENST00000297537.4	-	2	907	c.908T>C	c.(907-909)gTg>gCg	p.V303A		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	303						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGACCTGCACCTCACTGAG	0.532000													17	117					0	0	0.007413	0	0
SNX6	58533	broad.mit.edu	37	14	35077236	35077236	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:35077236G>A	ENST00000362031.4	-	4	336	c.306_splice	c.e4+1	p.I102_splice	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	90	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAATACTTACGATATAACCTG	0.318000													23	39					0	0	0.002299	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197336	44197336	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44197336A>G	ENST00000393841.1	+	5	613	c.122A>G	c.(121-123)aAc>aGc	p.N41S	SLC29A1_ENST00000371731.1_Missense_Mutation_p.N41S|SLC29A1_ENST00000393844.1_Missense_Mutation_p.N41S|SLC29A1_ENST00000371740.5_Missense_Mutation_p.N41S|SLC29A1_ENST00000371724.1_Missense_Mutation_p.N41S|SLC29A1_ENST00000427851.2_Missense_Mutation_p.N41S|SLC29A1_ENST00000313248.7_Missense_Mutation_p.N120S|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371755.3_Missense_Mutation_p.N41S|SLC29A1_ENST00000371713.1_Missense_Mutation_p.N41S|SLC29A1_ENST00000371708.1_Missense_Mutation_p.N41S	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	41					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	tatttcacaAACCGCCTGGAC	0.582000													4	49					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179549111	179549111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179549111C>T	ENST00000589042.1	-	132	32892	c.32668G>A	c.(32668-32670)Gaa>Aaa	p.E10890K	TTN_ENST00000342992.6_Missense_Mutation_p.E9646K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10573K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10573	Glu-rich.|Pro-rich.						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)			ACTTTTTCTTCCTGGGTAATT	0.388000													12	48					0	0	0.003163	0	0
RIF1	55183	broad.mit.edu	37	2	152299813	152299813	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:152299813A>G	ENST00000243326.4	+	16	2258	c.1775A>G	c.(1774-1776)aAt>aGt	p.N592S	RIF1_ENST00000428287.2_Missense_Mutation_p.N592S|RIF1_ENST00000453091.2_Missense_Mutation_p.N592S|RIF1_ENST00000430328.2_Missense_Mutation_p.N592S|RIF1_ENST00000444746.2_Missense_Mutation_p.N592S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	592					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTTTCAACAATTTCTTGGAA	0.294000													4	50					0	0	0.000248	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471478	106471478	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:106471478G>A	ENST00000390595.2	-	0	160																											AGCCTTGCAGGAAACCTTCAC	0.577000													7	72					0	0	0.004482	0	0
UQCRC1	7384	broad.mit.edu	37	3	48646675	48646675	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48646675A>G	ENST00000203407.5	-	2	546	c.130T>C	c.(130-132)Ttc>Ctc	p.F44L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	44					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TCCGGCACGAACTGGAGCGCC	0.662000													9	35					0	0	0.004482	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841310	28841310	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28841310C>G	ENST00000336783.4	+	8	1132	c.965C>G	c.(964-966)aCt>aGt	p.T322S	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	322						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612000													11	20					0	0	0.000978	0	0
NOBOX	135935	broad.mit.edu	37	7	144101698	144101698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:144101698G>A	ENST00000467773.1	-	2	160	c.161C>T	c.(160-162)tCc>tTc	p.S54F	NOBOX_ENST00000483238.1_Missense_Mutation_p.S54F	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	54					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GATGAAGAAGGAGCTGAAAGA	0.577000													26	110					0	0	0.004656	0	0
MED7	9443	broad.mit.edu	37	5	156566260	156566260	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:156566260A>G	ENST00000286317.5	-	2	564	c.183T>C	c.(181-183)agT>agC	p.S61S	MED7_ENST00000420343.1_Silent_p.S61S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	61					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGATGCCCTGACTTTCCAAAG	0.403000													98	341					0	0	0.003610	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223904	42223904	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42223904G>A	ENST00000221992.6	+	7	1662	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.K515K|CEACAM5_ENST00000405816.1_Silent_p.K516K	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	516	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGAGGACAAGGATGCTGTGG	0.557000													23	95					0	0	0.003330	0	0
PSG8	440533	broad.mit.edu	37	19	43269725	43269725	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:43269725G>A	ENST00000404209.4	-	1	105	c.9C>T	c.(7-9)ctC>ctT	p.L3L	PSG8_ENST00000406636.3_Silent_p.L3L|PSG8_ENST00000306511.4_Silent_p.L3L|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	3						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGCTGAGAGGAGCCCCATGG	0.602000													20	40					0	0	0.004656	0	0
TRPM7	54822	broad.mit.edu	37	15	50884349	50884349	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:50884349G>A	ENST00000313478.7	-	26	4364	c.4083C>T	c.(4081-4083)tcC>tcT	p.S1361S	TRPM7_ENST00000560955.1_Silent_p.S1361S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1361					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTCTGGAGGGGAAACAGCAC	0.393000													11	13					0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168099252	168099252	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:168099252A>G	ENST00000409195.1	+	9	1439	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.E450E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E228E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	275			P -> A (in dbSNP:rs16853305).		actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAATGACAGAAGAATTTCCTC	0.463000													7	42					0	0	0.001984	0	0
COL8A1	1295	broad.mit.edu	37	3	99513985	99513985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:99513985G>A	ENST00000261037.3	+	5	1620	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G414R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	414	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGACCCAAAGGAGAAGGTGG	0.607000													17	37					0	0	0.001523	0	0
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:41125251G>A	ENST00000308370.7	+	26	3268		c.e26-1		LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468000													38	81					0	0	0.002852	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703912	68703912	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:68703912A>G	ENST00000255078.3	+	13	2075	c.1964A>G	c.(1963-1965)aAc>aGc	p.N655S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	655					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCATGAGAACTCCCAGGGT	0.572000													11	56					0	0	0.001368	0	0
ENTHD2	146705	broad.mit.edu	37	17	79202796	79202796	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79202796A>G	ENST00000374769.2	-	13	1735	c.1258T>C	c.(1258-1260)Tcc>Ccc	p.S420P	ENTHD2_ENST00000300714.3_Missense_Mutation_p.S504P|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		GTCCTCTGGGACGATGTTTGG	0.662000													6	33					0	0	0.004482	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925127	4925127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrY:4925127C>T	ENST00000333703.4	+	4	743	c.230C>T	c.(229-231)tCc>tTc	p.S77F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S88F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S88F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	88	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAACAAGTCCTTGACAACT	0.453000													34	21					0	0	0.002445	0	0
PDE6D	5147	broad.mit.edu	37	2	232645820	232645820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:232645820G>A	ENST00000287600.4	-	1	199	c.5C>T	c.(4-6)tCa>tTa	p.S2L	PDE6D_ENST00000477748.1_5'UTR|PDE6D_ENST00000409772.1_Missense_Mutation_p.S2L	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	2					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		GTCCTTGGCTGACATGATGCG	0.711000													6	24					0	0	0.001984	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944664	96944664	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:96944664A>G	ENST00000323853.5	-	37	5283	c.5206T>C	c.(5206-5208)Ttc>Ctc	p.F1736L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1736	Helicase C-terminal 2.		F -> L (in a colorectal cancer sample; somatic mutation).			catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCAGCATTGAAGTGGTCATGC	0.488000													20	83					0	0	0.003330	0	0
DBX1	120237	broad.mit.edu	37	11	20178610	20178610	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:20178610C>T	ENST00000524983.2	-	3	933	c.645G>A	c.(643-645)gcG>gcA	p.A215A	DBX1_ENST00000227256.3_Silent_p.A215A			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	215					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCAGCTTGGCCGCCAGCTTCT	0.642000													14	29					0	0	0.001855	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192262	123192262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:123192262C>T	ENST00000264501.4	+	47	7956	c.7583C>T	c.(7582-7584)tCc>tTc	p.S2528F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2528F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2528F			Q2LD37	K1109_HUMAN	KIAA1109	2528					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGAAAAGTCCGTGTGCACC	0.438000													19	81					0	0	0.006122	0	0
FNDC3B	64778	broad.mit.edu	37	3	172080540	172080540	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:172080540T>C	ENST00000336824.4	+	23	3012	c.2913T>C	c.(2911-2913)ccT>ccC	p.P971P	FNDC3B_ENST00000416957.1_Silent_p.P971P|FNDC3B_ENST00000415807.2_Silent_p.P971P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	971	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGCTGGTCCTCAGAGCCTGA	0.473000													12	68					0	0	0.001855	0	0
ARMC7	79637	broad.mit.edu	37	17	73125021	73125021	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73125021T>G	ENST00000245543.1	+	3	787	c.485T>G	c.(484-486)aTc>aGc	p.I162S	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	162							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CTGGCACAGATCTTCCTGGAG	0.701000													3	21					0	0	0.004672	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162053	12162053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:12162053C>T	ENST00000379388.2	+	8	7201	c.6869C>T	c.(6868-6870)cCg>cTg	p.P2290L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P155L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2290					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACACAATTCCGTCTGTAGAC	0.507000													29	58					0	0	0.008361	0	0
LOC146880	146880	broad.mit.edu	37	17	62750721	62750721	+	RNA	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62750721T>C	ENST00000400873.3	-	0	1892					NR_026899.1																						ACAACCTGAGTCTGTTCATCT	0.453000													8	196					0	0	0.000978	0	0
FMR1	2332	broad.mit.edu	37	X	147022103	147022103	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:147022103A>G	ENST00000218200.8	+	12	1363	c.1134A>G	c.(1132-1134)gtA>gtG	p.V378V	FMR1_ENST00000440235.2_Silent_p.V46V|FMR1_ENST00000370475.4_Silent_p.V399V|FMR1_ENST00000370471.3_Silent_p.V399V|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000439526.2_Silent_p.V376V|FMR1_ENST00000370470.1_Silent_p.V399V|FMR1_ENST00000370477.1_Silent_p.V378V	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	399					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTATGGTACCATTTGTTT	0.343000									Fragile X syndrome				34	72					0	0	0.004878	0	0
COL5A1	1289	broad.mit.edu	37	9	137693830	137693830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:137693830C>T	ENST00000371817.3	+	38	3397	c.2983C>T	c.(2983-2985)Ccc>Tcc	p.P995S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	995	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTCCAGGCCCCCCCGGCGT	0.652000													14	53					0	0	0.004007	0	0
OR52B4	143496	broad.mit.edu	37	11	4388943	4388943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4388943G>A	ENST00000408920.2	-	1	673	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTATTCGAATGTCATTA	0.338000													19	16					0	0	0.007413	0	0
LOC102546299	102546299	broad.mit.edu	37	5	164028140	164028140	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:164028140G>A	ENST00000486913.3	+	0	318				CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA																							CCACCTGGTTGAAGGTCTTGC	0.592000													6	5					0	0	0.001168	0	0
PDE8A	5151	broad.mit.edu	37	15	85657157	85657157	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:85657157A>G	ENST00000310298.4	+	15	1491	c.1239A>G	c.(1237-1239)gaA>gaG	p.E413E	PDE8A_ENST00000557957.1_Silent_p.E341E|PDE8A_ENST00000394553.1_Silent_p.E413E|PDE8A_ENST00000339708.5_Silent_p.E367E			O60658	PDE8A_HUMAN	phosphodiesterase 8A	413					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CTGTGACAGAAGCCCTAGACC	0.413000													12	67					0	0	0.002450	0	0
FAM129B	64855	broad.mit.edu	37	9	130270409	130270409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:130270409G>A	ENST00000373312.3	-	12	1718	c.1505C>T	c.(1504-1506)cCg>cTg	p.P502L	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.P489L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	502							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGCAGGAACGGGATGCTGAT	0.632000													21	46					0	0	0.003954	0	0
POTEH	23784	broad.mit.edu	37	22	16267081	16267081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:16267081C>T	ENST00000343518.6	-	9	1419	c.1368G>A	c.(1366-1368)atG>atA	p.M456I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	456										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTGCTTCTTCATTTCTTCTT	0.358000													27	393					0	0	0.004878	0	0
ERCC6L	54821	broad.mit.edu	37	X	71424980	71424980	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:71424980A>G	ENST00000373657.1	-	3	3870	c.3268T>C	c.(3268-3270)Tgt>Cgt	p.C1090R	ERCC6L_ENST00000334463.3_Missense_Mutation_p.C1213R|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1213					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTTTCCACACTCTTTTAGT	0.418000													7	24					0	0	0.003080	0	0
MARCH6	10299	broad.mit.edu	37	5	10402676	10402676	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:10402676T>C	ENST00000274140.5	+	14	1286	c.1154T>C	c.(1153-1155)gTa>gCa	p.V385A	MARCH6_ENST00000510792.1_Missense_Mutation_p.V83A|MARCH6_ENST00000503788.1_Missense_Mutation_p.V280A|MARCH6_ENST00000449913.2_Missense_Mutation_p.V337A	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	385					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GAAATTGGAGTATTCCCTCTC	0.343000													111	245					0	0	0.003610	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457825	5457825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:5457825C>T	ENST00000296564.7	+	12	1294	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	358	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCACCTCACCCGGGTTCCTT	0.458000													70	199					0	0	0.003610	0	0
NOBOX	135935	broad.mit.edu	37	7	144098194	144098194	+	Silent	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:144098194C>A	ENST00000467773.1	-	4	788	c.789G>T	c.(787-789)ggG>ggT	p.G263G	NOBOX_ENST00000483238.1_Silent_p.G263G|NOBOX_ENST00000223140.5_Silent_p.G178G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	263					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTCCGGGGGCCCCTGCTTGT	0.567000													10	75					6.40141e-05	0.000107788	0.000978	1	0
CDC5L	988	broad.mit.edu	37	6	44374129	44374129	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44374129A>G	ENST00000371477.3	+	7	1127	c.828A>G	c.(826-828)ccA>ccG	p.P276P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	276	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGATTTACCATCAGCTATTC	0.323000													19	108					0	0	0.007413	0	0
FBXO46	23403	broad.mit.edu	37	19	46215522	46215522	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:46215522A>G	ENST00000317683.3	-	2	1365	c.1232T>C	c.(1231-1233)cTc>cCc	p.L411P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	411							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCGGTTCTGGAGAAAGAAGAG	0.706000													6	22					0	0	0.001168	0	0
SCN5A	6331	broad.mit.edu	37	3	38662413	38662413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38662413C>T	ENST00000413689.1	-	5	725	c.532G>A	c.(532-534)Gct>Act	p.A178T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A178T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A178T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A178T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A178T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A178T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A178T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A178T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A178T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A178T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	178					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAGCCTCGAGCCAGAATCTTG	0.542000													11	21					0	0	0.001368	0	0
MALAT1	378938	broad.mit.edu	37	11	65269103	65269103	+	RNA	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:65269103T>C	ENST00000534336.1	+	0	3871					NR_002819.2																						AGAGAAGGAGTGTACCGCTGT	0.453000													19	69					0	0	0.003330	0	0
C9orf24	84688	broad.mit.edu	37	9	34379691	34379691	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:34379691A>G	ENST00000297623.2	-	6	940	c.742T>C	c.(742-744)Tgc>Cgc	p.C248R	C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379126.3_Silent_p.C61C|C9orf24_ENST00000379124.1_Silent_p.C114C|C9orf24_ENST00000379133.3_Missense_Mutation_p.C113R|C9orf24_ENST00000379127.1_Silent_p.C114C	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	248										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTGTAACAGCACACTGCATTC	0.567000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	124					0	0	0.001523	0	0
CARD14	79092	broad.mit.edu	37	17	78163555	78163555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:78163555G>A	ENST00000573882.1	+	8	1383	c.847G>A	c.(847-849)Gag>Aag	p.E283K	CARD14_ENST00000344227.2_Missense_Mutation_p.E283K|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.E283K|CARD14_ENST00000392434.2_Missense_Mutation_p.E46K			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	283					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCCCAGGCGGAGAAGGACAT	0.682000													6	14					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9075993	9075993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9075993G>A	ENST00000397910.4	-	3	11656	c.11453C>T	c.(11452-11454)cCc>cTc	p.P3818L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3819	Thr-rich.				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						AGTGGTGGTGGGAAGCTGAGT	0.512000													25	158					0	0	0.006320	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199522	71199522	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:71199522T>C	ENST00000554752.2	-	11	2563	c.2564A>G	c.(2563-2565)gAt>gGt	p.D855G	MAP3K9_ENST00000381250.4_Missense_Mutation_p.D832G|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D588G|MAP3K9_ENST00000554146.1_Missense_Mutation_p.D583G|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D869G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	855					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GACAATTTCATCGCTGTCGGA	0.602000													7	34					0	0	0.001984	0	0
NEURL4	84461	broad.mit.edu	37	17	7228139	7228139	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7228139T>C	ENST00000399464.2	-	9	1807	c.1792A>G	c.(1792-1794)Acc>Gcc	p.T598A	NEURL4_ENST00000315614.7_Missense_Mutation_p.T598A|NEURL4_ENST00000570460.1_Missense_Mutation_p.T576A	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						TTGGTCATGGTGGAGGGCAAC	0.577000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	58					0	0	0.003271	0	0
GAS6	2621	broad.mit.edu	37	13	114542734	114542734	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:114542734T>C	ENST00000357389.3	-	5	585	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E	GAS6_ENST00000327773.6_Missense_Mutation_p.K145E|GAS6_ENST00000355761.4_Missense_Mutation_p.K91E			Q14393	GAS6_HUMAN	growth arrest-specific 6	145	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCCAGCTTTACACAGGCAG	0.632000													27	92					0	0	0.002445	0	0
TAF2	6873	broad.mit.edu	37	8	120807857	120807857	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:120807857A>G	ENST00000378164.2	-	9	1404	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	369					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCCTTCAGCACCCATTCATC	0.348000													7	72					0	0	0.001984	0	0
TMEM38B	55151	broad.mit.edu	37	9	108457007	108457007	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:108457007C>T	ENST00000374692.3	+	1	183	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	22						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CCTTTTTTGACATCGCGCACT	0.632000													10	43					0	0	0.001368	0	0
PLEC	5339	broad.mit.edu	37	8	144991141	144991141	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144991141A>G	ENST00000322810.4	-	32	13428	c.13259T>C	c.(13258-13260)aTc>aCc	p.I4420T	PLEC_ENST00000354958.2_Missense_Mutation_p.I4261T|PLEC_ENST00000345136.3_Missense_Mutation_p.I4283T|PLEC_ENST00000398774.2_Missense_Mutation_p.I4251T|PLEC_ENST00000354589.3_Missense_Mutation_p.I4283T|PLEC_ENST00000357649.2_Missense_Mutation_p.I4287T|PLEC_ENST00000436759.2_Missense_Mutation_p.I4310T|PLEC_ENST00000527096.1_Missense_Mutation_p.I4306T|PLEC_ENST00000356346.3_Missense_Mutation_p.I4269T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4420	Globular 2.				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						CGTGTCCAGGATGCCAGCCAC	0.677000													12	86					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179569002	179569002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179569002C>T	ENST00000589042.1	-	106	30319	c.30095G>A	c.(30094-30096)gGt>gAt	p.G10032D	TTN_ENST00000342992.6_Missense_Mutation_p.G8788D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9715D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9715	Glu-rich.						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)			TTTATGTCTACCTTGGGGTTT	0.413000													41	96					0	0	0.007835	0	0
PRSS1	5644	broad.mit.edu	37	7	142458472	142458472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142458472C>T	ENST00000486171.1	+	2	124	c.107C>T	c.(106-108)cCc>cTc	p.P36L	PRSS1_ENST00000311737.7_Missense_Mutation_p.P36L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	36	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AATTCTGTCCCCTACCAGGTG	0.532000													32	266					0	0	0.002445	0	0
PEX14	5195	broad.mit.edu	37	1	10683172	10683172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:10683172C>T	ENST00000356607.4	+	6	561	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	PEX14_ENST00000538836.1_Nonsense_Mutation_p.Q97*	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	161					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCGTGGCCCAGACAGGTAA	0.592000													10	26					0	0	0.008291	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166836860	166836860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:166836860C>T	ENST00000510118.1	-	19	2042	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E454K|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E551K|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E454K|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E543K			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	543	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTCCCCGACTCATCCCTGTAC	0.597000													10	14					0	0	0.001368	0	0
TOP2B	7155	broad.mit.edu	37	3	25661495	25661495	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:25661495A>T	ENST00000435706.2	-	23	3107	c.2906T>A	c.(2905-2907)tTa>tAa	p.L969*	TOP2B_ENST00000264331.4_Nonsense_Mutation_p.L974*			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	974					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATCAGAAATTAATGCTGGTGT	0.323000													5	15					0	0	0.000602	0	0
FAM135B	51059	broad.mit.edu	37	8	139263133	139263133	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:139263133A>G	ENST00000395297.1	-	6	663	c.493T>C	c.(493-495)Tcg>Ccg	p.S165P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	165										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGGTCACCGAGATCACAGAC	0.582000										HNSCC(54;0.14)			20	140					0	0	0.008871	0	0
RBM19	9904	broad.mit.edu	37	12	114380138	114380138	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:114380138G>A	ENST00000545145.2	-	14	1806	c.1728C>T	c.(1726-1728)tcC>tcT	p.S576S	RBM19_ENST00000261741.5_Silent_p.S576S|RBM19_ENST00000392561.3_Silent_p.S576S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	576					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCTGGCTGAAGGAATCCAGGC	0.607000													9	17					0	0	0.006214	0	0
KIAA1841	84542	broad.mit.edu	37	2	61319682	61319682	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:61319682G>T	ENST00000402291.1	+	11	1413	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	KIAA1841_ENST00000453873.1_Missense_Mutation_p.W391L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.W391L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.W391L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	391										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGGCGATTGTGGGGAACAATC	0.343000													17	93					2.35188e-11	4.02355e-11	0.006122	1	0
NR1H4	9971	broad.mit.edu	37	12	100926293	100926293	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100926293A>G	ENST00000548884.1	+	5	1044	c.503A>G	c.(502-504)aAc>aGc	p.N168S	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.N178S|NR1H4_ENST00000188403.7_Missense_Mutation_p.N178S|NR1H4_ENST00000392986.3_Missense_Mutation_p.N168S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	178					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AACGGGGGCAACTGTGTGATG	0.418000													16	92					0	0	0.004007	0	0
S1PR3	1903	broad.mit.edu	37	9	91616904	91616904	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:91616904C>T	ENST00000375846.3	+	1	5484	c.789C>T	c.(787-789)ttC>ttT	p.F263F	S1PR3_ENST00000358157.2_Silent_p.F263F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	263					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCATCCTCTTCCTCATTGATG	0.592000													13	28					0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187541984	187541984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:187541984G>A	ENST00000441802.2	-	10	5965	c.5756C>T	c.(5755-5757)aCc>aTc	p.T1919I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1919	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGCCTTCGGTGATGGAGTA	0.428000										HNSCC(5;0.00058)			24	41					0	0	0.002780	0	0
CSH2	1443	broad.mit.edu	37	17	61949648	61949648	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:61949648G>A	ENST00000392886.2	-	5	643	c.492C>T	c.(490-492)atC>atT	p.I164I	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.I69I|CSH2_ENST00000560142.1_Silent_p.I107I	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	164					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TCTGCTTGAGGATCTGCCCAG	0.552000													38	102					0	0	0.002222	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223895	142223895	+	RNA	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142223895C>T	ENST00000390367.3	-	0	288																											GGAGTCTACTCCTTTGAGCCT	0.522000													24	252					0	0	0.004656	0	0
C3orf56	285311	broad.mit.edu	37	3	126916169	126916169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:126916169C>T	ENST00000398112.1	+	2	881	c.641C>T	c.(640-642)cCc>cTc	p.P214L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCCTTCCCCCATTGAAGAT	0.632000													7	9					0	0	0.004482	0	0
DUSP13	51207	broad.mit.edu	37	10	76854536	76854536	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:76854536G>A	ENST00000491677.2	-	8	1424	c.882C>T	c.(880-882)atC>atT	p.I294I	DUSP13_ENST00000607131.1_Silent_p.I258I|DUSP13_ENST00000605915.1_Silent_p.I187I|DUSP13_ENST00000464872.1_Silent_p.I114I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Silent_p.I301I|DUSP13_ENST00000372700.3_Silent_p.I215I|DUSP13_ENST00000472493.2_Silent_p.I165I	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	156						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCACCGTCTGGATGGCCTCTA	0.622000													18	16					0	0	0.004990	0	0
TIGD5	84948	broad.mit.edu	37	8	144681449	144681449	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144681449A>G	ENST00000504548.2	+	1	1376	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	TIGD5_ENST00000321385.3_Missense_Mutation_p.Y410C	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	459					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GACATGCTCTACCTGGCTGGC	0.677000													6	29					0	0	0.001168	0	0
C7orf34	135927	broad.mit.edu	37	7	142637463	142637463	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142637463A>C	ENST00000409607.3	+	2	274	c.233A>C	c.(232-234)gAg>gCg	p.E78A		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	53						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGTTCGAAGAGCACTTTGTG	0.532000													7	137					0	0	0.003080	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106354	41106354	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:41106354A>G	ENST00000355341.4	+	11	1847	c.1346A>G	c.(1345-1347)cAt>cGt	p.H449R	ZFYVE19_ENST00000299173.10_Missense_Mutation_p.H381R|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.H274R|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.H426R|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.H439R	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	449							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGAGAGGGCCATGATGCCTTT	0.582000													14	29					0	0	0.003163	0	0
ASB6	140459	broad.mit.edu	37	9	132401685	132401685	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:132401685T>C	ENST00000277458.4	-	3	563	c.398A>G	c.(397-399)gAc>gGc	p.D133G	ASB6_ENST00000277459.4_Missense_Mutation_p.D133G|ASB6_ENST00000450050.2_Missense_Mutation_p.D54G	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	133					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ACTTACCCGGTCCCTCCGATT	0.622000													8	14					0	0	0.003080	0	0
TPM3	7170	broad.mit.edu	37	1	154164465	154164465	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154164465C>T	ENST00000368530.2	-	1	222	c.30G>A	c.(28-30)caG>caA	p.Q10Q	TPM3_ENST00000271850.7_Silent_p.Q10Q	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	9					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACTTCAGCATCTGCATCTTTT	0.512000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								65	17					0	0	0.003610	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379564	45379564	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:45379564T>C	ENST00000398063.2	+	2	494	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AGPAT3_ENST00000546158.1_Start_Codon_SNP_p.M1T|AGPAT3_ENST00000291572.8_Start_Codon_SNP_p.M1T|AGPAT3_ENST00000327505.2_Start_Codon_SNP_p.M1T|AGPAT3_ENST00000398058.1_Start_Codon_SNP_p.M1T|AGPAT3_ENST00000398061.1_Start_Codon_SNP_p.M1T	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	1					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGCAGCGCCATGGGCCTGCTG	0.647000													28	90					0	0	0.001786	0	0
SNX17	9784	broad.mit.edu	37	2	27596119	27596119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:27596119C>T	ENST00000233575.2	+	4	484	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Nonsense_Mutation_p.Q63*	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	88	PX.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTAGTTCGGCAAGACCCATT	0.527000													12	57					0	0	0.001855	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617664	37617664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:37617664C>T	ENST00000399151.3	+	19	3471	c.3386C>T	c.(3385-3387)tCc>tTc	p.S1129F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1129					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						TCCTCCTTCTCCTCCCCTTCC	0.662000													20	46					0	0	0.008871	0	0
MTF1	4520	broad.mit.edu	37	1	38304397	38304397	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:38304397T>C	ENST00000373036.4	-	4	819	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	227						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTAAACGTTTTCCCTGTGTGA	0.378000													18	52					0	0	0.001882	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192852	132192852	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192852T>C	ENST00000359827.3	-	2	1563	c.601A>G	c.(601-603)Agc>Ggc	p.S201G	PLXNA4_ENST00000423507.2_Missense_Mutation_p.S201G|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S201G|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S201G			Q9HCM2	PLXA4_HUMAN	plexin A4	201	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTTTCCGGCTGGAGATGGTG	0.527000													15	203					0	0	0.008871	0	0
PHTF2	57157	broad.mit.edu	37	7	77558603	77558603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:77558603C>T	ENST00000416283.2	+	10	1321	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S	PHTF2_ENST00000248550.7_Missense_Mutation_p.P433S|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000424760.1_Missense_Mutation_p.P395S|PHTF2_ENST00000307305.8_Missense_Mutation_p.P395S|PHTF2_ENST00000422959.2_Missense_Mutation_p.P399S|PHTF2_ENST00000275575.7_Missense_Mutation_p.P395S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCAGATTAATCCATGTGTGAA	0.368000													11	65					0	0	0.000978	0	0
ATAD2	29028	broad.mit.edu	37	8	124357152	124357152	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:124357152T>C	ENST00000287394.5	-	19	2797	c.2690A>G	c.(2689-2691)gAc>gGc	p.D897G	ATAD2_ENST00000521903.1_Missense_Mutation_p.D215G	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGGGTTTGTCAGAAGTTGC	0.378000													28	115					0	0	0.006320	0	0
RECK	8434	broad.mit.edu	37	9	36083436	36083436	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:36083436G>C	ENST00000377966.3	+	8	1080	c.514G>C	c.(514-516)Gac>Cac	p.D172H	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	172	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTTCGAACAGACTCTTCTCC	0.398000													15	132					0	0	0.003163	0	0
CDC27	996	broad.mit.edu	37	17	45234395	45234395	+	Silent	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:45234395A>T	ENST00000066544.3	-	7	819	c.726T>A	c.(724-726)ccT>ccA	p.P242P	CDC27_ENST00000446365.2_Silent_p.P181P|CDC27_ENST00000531206.1_Silent_p.P242P|CDC27_ENST00000527547.1_Silent_p.P242P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGACAGTATCAGGTGAAATTA	0.358000													6	35					0	0	0.001984	0	0
SMC4	10051	broad.mit.edu	37	3	160141612	160141612	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:160141612A>G	ENST00000357388.3	+	15	2760	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	SMC4_ENST00000462787.1_Missense_Mutation_p.E770G|SMC4_ENST00000469762.1_Missense_Mutation_p.E745G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.E770G|SMC4_ENST00000344722.5_Missense_Mutation_p.E770G	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	770					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTGTTATTGAAATCTCTGAA	0.368000													8	53					0	0	0.004482	0	0
OTOGL	283310	broad.mit.edu	37	12	80632729	80632729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:80632729C>T	ENST00000458043.2	+	9	895	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P297S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTCCAAATCCGTGCTCCAG	0.393000													10	16					0	0	0.008291	0	0
DENND2C	163259	broad.mit.edu	37	1	115137163	115137163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:115137163G>A	ENST00000393274.1	-	18	2987	c.2362C>T	c.(2362-2364)Caa>Taa	p.Q788*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q731*|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q676*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	788										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGCAGCTTGAAGTTTTGGT	0.363000													41	73					0	0	0.008740	0	0
WDR65	149465	broad.mit.edu	37	1	43664298	43664298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:43664298C>T	ENST00000372492.4	+	8	1733	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	WDR65_ENST00000528956.1_Missense_Mutation_p.S470F	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	470										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGAATACTCTGTTAGAGGA	0.403000													24	16					0	0	0.004656	0	0
OR8S1	341568	broad.mit.edu	37	12	48919450	48919450	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:48919450C>T	ENST00000310194.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCACCGAGTTCCTCCTCCTTG	0.502000													45	106					0	0	0.002852	0	0
EMR1	2015	broad.mit.edu	37	19	6913832	6913832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:6913832G>A	ENST00000312053.4	+	11	1328	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	EMR1_ENST00000381407.5_Missense_Mutation_p.E290K|EMR1_ENST00000381404.4_Missense_Mutation_p.E379K|EMR1_ENST00000250572.8_Missense_Mutation_p.E431K|EMR1_ENST00000450315.3_Missense_Mutation_p.E254K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	431	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTTCGGACGGAATACTTAGG	0.502000													16	92					0	0	0.007413	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877829	38877829	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:38877829A>G	ENST00000339659.3	+	9	2926	c.1456A>G	c.(1456-1458)Aca>Gca	p.T486A	DYRK1A_ENST00000338785.3_Missense_Mutation_p.T495A|DYRK1A_ENST00000398956.2_Missense_Mutation_p.T495A|DYRK1A_ENST00000451934.1_Missense_Mutation_p.T495A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.T267A|DYRK1A_ENST00000321219.8_Missense_Mutation_p.T495A|DYRK1A_ENST00000398960.2_Missense_Mutation_p.T495A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	495					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAGTGTATCTACAAGCCCCGC	0.463000													18	140					0	0	0.001882	0	0
MIR320B1	100302117	broad.mit.edu	37	1	117214427	117214427	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:117214427G>A	ENST00000390209.2	+	0	57					NR_031564.1																						GGTTGAGAGGGCAAACAaatt	0.333000													5	9					0	0	0.000602	0	0
PAK2	5062	broad.mit.edu	37	3	196533549	196533549	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:196533549A>G	ENST00000327134.3	+	6	890	c.568A>G	c.(568-570)Acg>Gcg	p.T190A		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	190					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)		ACCGGATCATACGAAATCAGT	0.473000													5	25					0	0	0.000602	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826820	92826820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:92826820C>T	ENST00000394468.2	-	5	1193	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*	HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.W360*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.W395*|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.W360*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	372						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATATTTTTTCCATAGGAAGA	0.303000													21	120					0	0	0.001882	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:97726706C>T	ENST00000472788.1	-	0	657					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000													7	15					0	0	0.001984	0	0
SETX	23064	broad.mit.edu	37	9	135158730	135158730	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:135158730C>G	ENST00000372169.2	-	19	6649	c.6467G>C	c.(6466-6468)aGc>aCc	p.S2156T	SETX_ENST00000224140.5_Missense_Mutation_p.S2156T|SETX_ENST00000393220.1_Missense_Mutation_p.S2156T			Q7Z333	SETX_HUMAN	senataxin	2156					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCACTTGTGCTCAACGTGCA	0.463000													22	66					0	0	0.002299	0	0
PPL	5493	broad.mit.edu	37	16	4938995	4938995	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:4938995T>C	ENST00000345988.2	-	19	2470	c.2381A>G	c.(2380-2382)tAc>tGc	p.Y794C	PPL_ENST00000590782.2_Missense_Mutation_p.Y792C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	794					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTTGCTGGTACTGCTGGGA	0.498000													72	287					0	0	0.003610	0	0
UNKL	64718	broad.mit.edu	37	16	1416299	1416299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:1416299G>A	ENST00000389221.4	-	15	1984	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L	UNKL_ENST00000397464.1_Missense_Mutation_p.P164L|UNKL_ENST00000248104.7_Missense_Mutation_p.P211L|UNKL_ENST00000391893.2_Missense_Mutation_p.P211L|UNKL_ENST00000508903.2_Missense_Mutation_p.P715L|UNKL_ENST00000402641.2_Missense_Mutation_p.P214L|UNKL_ENST00000403703.1_Missense_Mutation_p.P214L	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	662						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCCGCACACGGCTCACAGAG	0.697000													7	8					0	0	0.001984	0	0
SRP54	6729	broad.mit.edu	37	14	35478024	35478024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:35478024C>T	ENST00000556994.1	+	8	869	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SRP54_ENST00000546080.1_Missense_Mutation_p.P109S|SRP54_ENST00000555557.1_Missense_Mutation_p.P94S|SRP54_ENST00000216774.6_Missense_Mutation_p.P158S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	158	G-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)		AGCAAGAATTCCATTTTATGG	0.313000													14	26					0	0	0.004007	0	0
CDH17	1015	broad.mit.edu	37	8	95182692	95182692	+	Silent	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:95182692A>T	ENST00000027335.3	-	9	1123	c.999T>A	c.(997-999)atT>atA	p.I333I	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.I333I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	333	Cadherin 3.					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)			GATTATCATTAATATCTTTAA	0.393000													17	138					0	0	0.004007	0	0
ZNF652	22834	broad.mit.edu	37	17	47376209	47376209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:47376209G>A	ENST00000362063.2	-	6	1705	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ZNF652_ENST00000430262.2_Missense_Mutation_p.H463Y	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCGCCTGTGTGAGTTCTGCGG	0.512000													14	27					0	0	0.003163	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748640	125748640	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:125748640T>A	ENST00000373647.4	+	4	666	c.532T>A	c.(532-534)Tgt>Agt	p.C178S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	178	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AAGAAGCCAGTGTCAGATTTC	0.423000													52	49					0	0	0.003610	0	0
CAPN13	92291	broad.mit.edu	37	2	30975988	30975988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:30975988C>T	ENST00000295055.8	-	10	1194	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	CAPN13_ENST00000534090.2_Missense_Mutation_p.G340R	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	340					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTGTGTTTCCATGGTCCAGG	0.423000													70	131					0	0	0.003610	0	0
KIF13A	63971	broad.mit.edu	37	6	17773793	17773793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:17773793C>T	ENST00000378814.5	-	35	4200	c.4201G>A	c.(4201-4203)Gac>Aac	p.D1401N	KIF13A_ENST00000259711.6_Missense_Mutation_p.D1414N|KIF13A_ENST00000378826.2_Missense_Mutation_p.D1414N|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1414N|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1401N	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1414					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAGACATGTCCAACTGGTTC	0.403000													35	85					0	0	0.004878	0	0
ATP13A3	79572	broad.mit.edu	37	3	194159595	194159595	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:194159595T>C	ENST00000439040.1	-	17	2608	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N606S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	606					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATTTCTTGGTTTCCTGCAGG	0.343000													7	72					0	0	0.004482	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766203	27766203	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:27766203G>A	ENST00000451261.2	+	5	1590	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGACCAGAGGAAAATTGATA	0.393000													21	7					0	0	0.001523	0	0
ZNF440	126070	broad.mit.edu	37	19	11942549	11942549	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:11942549T>C	ENST00000304060.5	+	4	722	c.558T>C	c.(556-558)agT>agC	p.S186S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCATTCAAGTGTTCGAAGAC	0.398000													14	86					0	0	0.006122	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664141	25664141	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:25664141T>A	ENST00000382051.3	+	2	69	c.19T>A	c.(19-21)Ttg>Atg	p.L7M	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L7M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L7M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	7					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGGCCTGAATTGGGAGATGC	0.527000			T	ROS1	NSCLC								19	33					0	0	0.007413	0	0
ZNF285	26974	broad.mit.edu	37	19	44891897	44891897	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:44891897G>A	ENST00000330997.4	-	4	574	c.510C>T	c.(508-510)taC>taT	p.Y170Y	ZNF285_ENST00000591679.1_Silent_p.Y177Y|ZNF285_ENST00000544719.2_Silent_p.Y170Y|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTCTTCCATGTAAATTCCCT	0.478000													18	61					0	0	0.007413	0	0
COL7A1	1294	broad.mit.edu	37	3	48630557	48630557	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48630557A>G	ENST00000328333.8	-	5	767	c.660T>C	c.(658-660)ggT>ggC	p.G220G	COL7A1_ENST00000454817.1_Silent_p.G220G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	220	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGCACGCCACCAGCAGTCG	0.587000													6	44					0	0	0.001984	0	0
TLE1	7088	broad.mit.edu	37	9	84268944	84268944	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:84268944A>T	ENST00000376499.3	-	5	1306	c.242T>A	c.(241-243)aTc>aAc	p.I81N	TLE1_ENST00000376463.1_Missense_Mutation_p.I25N|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	81	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						TCTCTTGGCGATTTCAGTCTA	0.373000													10	50					0	0	0.000978	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133817	38133817	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:38133817A>G	ENST00000317025.8	-	23	4586	c.4069T>C	c.(4069-4071)Tat>Cat	p.Y1357H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.Y1308H|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Y1346H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1357					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGCTTACCATATGGTGGCTGA	0.443000			T	NUP98	AML								9	14					0	0	0.000978	0	0
ANLN	54443	broad.mit.edu	37	7	36450166	36450166	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:36450166T>C	ENST00000265748.2	+	6	1361	c.1140T>C	c.(1138-1140)cgT>cgC	p.R380R	ANLN_ENST00000396068.2_Silent_p.R380R|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	380	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTGGAGAGCGTTGTCAAGAAC	0.398000													8	37					0	0	0.004482	0	0
TCF20	6942	broad.mit.edu	37	22	42609176	42609176	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:42609176A>G	ENST00000359486.3	-	1	2272	c.2136T>C	c.(2134-2136)agT>agC	p.S712S	TCF20_ENST00000335626.4_Silent_p.S712S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGACCCGAAACTATCTTTGT	0.517000													25	155					0	0	0.003954	0	0
PRPF8	10594	broad.mit.edu	37	17	1581892	1581892	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1581892A>G	ENST00000572621.1	-	12	2039	c.1774T>C	c.(1774-1776)Tat>Cat	p.Y592H	PRPF8_ENST00000304992.6_Missense_Mutation_p.Y592H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	592						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTATCGATACATGCCCGTC	0.463000													51	95					0	0	0.003610	0	0
FOXRED2	80020	broad.mit.edu	37	22	36902055	36902055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:36902055G>A	ENST00000397224.4	-	2	508	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R139C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R139C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	139					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TACTGGACACGGAGCCCCAGC	0.627000													18	44					0	0	0.006122	0	0
C6	729	broad.mit.edu	37	5	41142943	41142943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:41142943C>T	ENST00000263413.3	-	18	3053	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E	C6_ENST00000337836.5_Missense_Mutation_p.G930E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	930	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAACACTTTCCAGGATGCAG	0.413000													31	70					0	0	0.003755	0	0
PDIA3	2923	broad.mit.edu	37	15	44055313	44055313	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:44055313T>C	ENST00000300289.5	+	5	659	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	PDIA3_ENST00000538521.1_Missense_Mutation_p.F151L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	171					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACTCCGAGTTCCTAAAAGC	0.403000													17	51					0	0	0.004007	0	0
SCAMP2	10066	broad.mit.edu	37	15	75142927	75142927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75142927G>A	ENST00000268099.9	-	6	669	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	187					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CCACAGGATGGAGAGGCCAAA	0.562000													35	58					0	0	0.003755	0	0
EFTUD2	9343	broad.mit.edu	37	17	42959081	42959081	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:42959081T>C	ENST00000426333.2	-	7	799	c.502A>G	c.(502-504)Act>Gct	p.T168A	EFTUD2_ENST00000402521.3_Missense_Mutation_p.T133A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.T158A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.T168A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	168						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGGATGTCAGTATAGCACAGC	0.453000													9	66					0	0	0.008291	0	0
CNPY2	10330	broad.mit.edu	37	12	56704377	56704377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56704377G>A	ENST00000273308.4	-	6	1048	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Intron	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	170	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TGGTCACAAAGATCTGCAAAT	0.468000													21	42					0	0	0.002780	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149034	142149034	+	RNA	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142149034G>A	ENST00000390372.3	-	0	243																											ATCGATCAGGGAAGTTTCCTC	0.522000													37	184					0	0	0.003755	0	0
OLFM3	118427	broad.mit.edu	37	1	102269986	102269986	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:102269986C>T	ENST00000370103.4	-	6	1398	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.K415K	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	415	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATAATACACCTTGGCTCCAG	0.448000													74	45					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152553293	152553293	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:152553293G>A	ENST00000367255.5	-	113	21421	c.20820C>T	c.(20818-20820)tcC>tcT	p.S6940S	SYNE1_ENST00000448038.1_Silent_p.S6869S|SYNE1_ENST00000341594.5_Silent_p.S6552S|SYNE1_ENST00000265368.4_Silent_p.S6940S|SYNE1_ENST00000423061.1_Silent_p.S6869S|SYNE1_ENST00000356820.4_Silent_p.S1464S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6940					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTAACCTATGGAATTTTTAA	0.294000										HNSCC(10;0.0054)			27	44					0	0	0.004656	0	0
INPP5K	51763	broad.mit.edu	37	17	1412538	1412538	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1412538T>C	ENST00000406424.4	-	7	1120	c.260A>G	c.(259-261)cAc>cGc	p.H87R	INPP5K_ENST00000320345.6_Missense_Mutation_p.H87R|INPP5K_ENST00000542125.1_Intron|INPP5K_ENST00000421807.2_Missense_Mutation_p.H163R|INPP5K_ENST00000397335.3_Missense_Mutation_p.H71R	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	163	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CCGGTCAAAGTGCTCCAGCCG	0.557000													11	49					0	0	0.008291	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192910	132192910	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192910G>A	ENST00000359827.3	-	2	1505	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PLXNA4_ENST00000423507.2_Silent_p.D181D|PLXNA4_ENST00000321063.4_Silent_p.D181D|PLXNA4_ENST00000378539.5_Silent_p.D181D			Q9HCM2	PLXA4_HUMAN	plexin A4	181	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAACAGCTTGTCATCCAGGT	0.537000													20	168					0	0	0.003954	0	0
ADCK2	90956	broad.mit.edu	37	7	140379031	140379031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140379031C>T	ENST00000072869.4	+	3	1335	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	ADCK2_ENST00000476491.1_Missense_Mutation_p.P386L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	386	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTCAAGTTCCCCACCCCTCTG	0.498000													124	77					0	0	0.003610	0	0
MAP2K4	6416	broad.mit.edu	37	17	11984809	11984809	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:11984809A>G	ENST00000415385.3	+	4	441	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MAP2K4_ENST00000353533.5_Missense_Mutation_p.M119V			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	119	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGTCAACAAAATGGTCCACAA	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								9	38					0	0	0.008291	0	0
KRT2	3849	broad.mit.edu	37	12	53043751	53043751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53043751C>T	ENST00000309680.3	-	3	829	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	270	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTGATTTCATCCTCATACCTA	0.433000													21	69					0	0	0.003954	0	0
CSDE1	7812	broad.mit.edu	37	1	115272916	115272916	+	Missense_Mutation	SNP	T	T	C	rs149300730		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:115272916T>C	ENST00000438362.2	-	12	1835	c.1457A>G	c.(1456-1458)aAt>aGt	p.N486S	CSDE1_ENST00000339438.6_Missense_Mutation_p.N409S|CSDE1_ENST00000534699.1_Missense_Mutation_p.N440S|CSDE1_ENST00000261443.5_Missense_Mutation_p.N409S|CSDE1_ENST00000358528.4_Missense_Mutation_p.N440S|CSDE1_ENST00000530886.1_Missense_Mutation_p.N310S|CSDE1_ENST00000369530.1_Missense_Mutation_p.N455S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	440	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTTTAGGATTGGAAAAAGT	0.388000													14	109					0	0	0.002450	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273357	145273357	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:145273357T>C	ENST00000369340.3	+	4	655	c.211T>C	c.(211-213)Ttt>Ctt	p.F71L	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.F71L|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.F71L|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.F71L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	71	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCATCCATGCTTTGTGTCTCG	0.547000													140	1460					0	0	0.003610	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397205	85397205	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:85397205T>C	ENST00000370608.3	-	12	1449	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	MCOLN2_ENST00000284027.5_Missense_Mutation_p.N433S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	461						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTCATCACCGTTGACCAGAGA	0.398000													13	52					0	0	0.002450	0	0
PCDH18	54510	broad.mit.edu	37	4	138449932	138449932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:138449932G>A	ENST00000344876.4	-	2	2916	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PCDH18_ENST00000507846.1_Nonsense_Mutation_p.Q623*|PCDH18_ENST00000510305.1_Nonsense_Mutation_p.Q55*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.Q843*|PCDH18_ENST00000511115.1_Nonsense_Mutation_p.Q24*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	844					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTCTTGGCTGATATTGCCCC	0.408000													31	95					0	0	0.002445	0	0
HTATSF1	27336	broad.mit.edu	37	X	135586611	135586611	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:135586611A>G	ENST00000535601.1	+	7	1245	c.823A>G	c.(823-825)Atg>Gtg	p.M275V	HTATSF1_ENST00000218364.4_Missense_Mutation_p.M275V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	275	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTCATCCTATGGATTTTGA	0.493000													35	20					0	0	0.004289	0	0
CDC20B	166979	broad.mit.edu	37	5	54429240	54429240	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:54429240A>G	ENST00000334206.5	-	6	873	c.697_splice	c.e6+1	p.Y233_splice	CDC20B_ENST00000296733.1_Splice_Site_p.Y233_splice|CDC20B_ENST00000381375.2_Splice_Site_p.Y233_splice|CDC20B_ENST00000322374.6_Splice_Site_p.Y233_splice			Q86Y33	CD20B_HUMAN	cell division cycle 20B	233										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GATAACTTACAGTAGTCATTT	0.343000													16	49					0	0	0.003163	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645428	19645428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:19645428C>T	ENST00000457500.2	-	4	907	c.578G>A	c.(577-579)gGg>gAg	p.G193E	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G120E|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G193E|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G193E|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G193E	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	193					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GATGATCTTCCCCACCCCCGT	0.587000													12	23					0	0	0.001855	0	0
AHNAK	79026	broad.mit.edu	37	11	62294596	62294596	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:62294596T>C	ENST00000378024.4	-	5	7567	c.7293A>G	c.(7291-7293)ggA>ggG	p.G2431G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2431					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCCCTCTGGTCCCTCAATGT	0.463000													18	73					0	0	0.004990	0	0
YWHAQ	10971	broad.mit.edu	37	2	9727571	9727571	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:9727571A>C	ENST00000381844.4	-	4	813	c.650T>G	c.(649-651)aTc>aGc	p.I217S	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I217S|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	217					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CAACTGCATGATGAGGGTGCT	0.318000													28	67					0	0	0.002445	0	0
CLCN2	1181	broad.mit.edu	37	3	184076014	184076014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:184076014G>A	ENST00000265593.4	-	4	608	c.437C>T	c.(436-438)aCt>aTt	p.T146I	CLCN2_ENST00000457512.1_Missense_Mutation_p.T146I|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.T102I|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.T146I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	146						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGCTGAGAAAGTGATGAGGAC	0.592000													31	74					0	0	0.002836	0	0
COPS3	8533	broad.mit.edu	37	17	17179480	17179480	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:17179480T>C	ENST00000539941.2	-	2	204		c.e2-2		COPS3_ENST00000268717.5_Splice_Site|COPS3_ENST00000439936.2_Splice_Site	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3						cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCATTTGCCCTGGAAAACAGG	0.458000													11	40					0	0	0.001368	0	0
SGIP1	84251	broad.mit.edu	37	1	67208756	67208756	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:67208756G>A	ENST00000371037.4	+	25	2542	c.2464_splice	c.e25-1	p.G822_splice	SGIP1_ENST00000371036.3_Splice_Site_p.G624_splice|SGIP1_ENST00000371039.1_Splice_Site_p.G625_splice|SGIP1_ENST00000237247.6_Splice_Site_p.G853_splice|SGIP1_ENST00000435165.2_Splice_Site_p.G327_splice|SGIP1_ENST00000371035.3_Splice_Site_p.G612_splice	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	822					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGTTTTGCAGGAAAATACTTG	0.343000													43	24					0	0	0.003610	0	0
FNDC1	84624	broad.mit.edu	37	6	159618512	159618512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:159618512G>A	ENST00000297267.9	+	2	359	c.159G>A	c.(157-159)atG>atA	p.M53I	FNDC1_ENST00000340366.6_Missense_Mutation_p.M53I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	53	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCACTAAAATGGGCCTGAAAG	0.453000													48	42					0	0	0.003610	0	0
COL6A5	256076	broad.mit.edu	37	3	130095428	130095428	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:130095428T>C	ENST00000265379.6	+	3	910	c.416T>C	c.(415-417)gTg>gCg	p.V139A	COL6A5_ENST00000432398.2_Missense_Mutation_p.V139A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	139	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAATTTTGGTGGTCCTGGCT	0.527000													4	4					0	0	0.001168	0	0
AOX1	316	broad.mit.edu	37	2	201464442	201464442	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:201464442C>T	ENST00000374700.2	+	5	650	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	137					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAGCCCACTCTGGATCAGTT	0.438000													22	40					0	0	0.002780	0	0
KSR2	283455	broad.mit.edu	37	12	118198982	118198982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:118198982G>A	ENST00000425217.1	-	4	787	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	KSR2_ENST00000339824.5_Missense_Mutation_p.P274S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	274	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGTGCCCGGCGGGGTCACG	0.701000													82	167					0	0	0.003610	0	0
LIN7A	8825	broad.mit.edu	37	12	81205378	81205378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:81205378G>A	ENST00000552864.1	-	5	770	c.568C>T	c.(568-570)Cca>Tca	p.P190S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	190	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AGAACTTTTGGGGTGTATCGC	0.498000													20	44					0	0	0.008871	0	0
SERPINF1	5176	broad.mit.edu	37	17	1678351	1678351	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1678351G>A	ENST00000254722.4	+	6	806		c.e6-1			NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1						cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CTTCTTTCCAGGGCAGTGGGT	0.517000													32	53					0	0	0.002096	0	0
FAT4	79633	broad.mit.edu	37	4	126239528	126239528	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:126239528C>T	ENST00000394329.3	+	1	1975	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	654	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAAGCCTTCTACTCCCTGT	0.517000													18	29					0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870697	140870697	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140870697A>G	ENST00000252087.1	+	1	1890	c.1890A>G	c.(1888-1890)acA>acG	p.T630T	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACAGCCCGGGCCT	0.602000													6	17					0	0	0.001168	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604046	31604046	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:31604046A>G	ENST00000376033.2	+	26	5919	c.5685A>G	c.(5683-5685)ttA>ttG	p.L1895L	PRRC2A_ENST00000376007.4_Silent_p.L1895L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1895			L -> V (in dbSNP:rs3132453).			cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCTCTGGGTTAGCTCTCAAGG	0.547000													19	114					0	0	0.008871	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212800	134212800	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:134212800A>G	ENST00000535456.2	+	2	427	c.239A>G	c.(238-240)gAc>gGc	p.D80G	GLB1L2_ENST00000389881.3_Missense_Mutation_p.D80G|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D80G	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	80					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TACTGGAGGGACCGCCTGCTG	0.617000													8	42					0	0	0.006214	0	0
PTPRM	5797	broad.mit.edu	37	18	8379253	8379253	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:8379253A>G	ENST00000332175.8	+	26	4699	c.3662A>G	c.(3661-3663)gAc>gGc	p.D1221G	PTPRM_ENST00000400053.4_Missense_Mutation_p.D1159G|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1235G|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1008G|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1234G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1221	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGTGCATGGACATCCTGCCC	0.577000													6	33					0	0	0.004482	0	0
RAD51B	5890	broad.mit.edu	37	14	68352645	68352645	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:68352645T>A	ENST00000487270.1	+	6	560	c.512T>A	c.(511-513)cTt>cAt	p.L171H	RAD51B_ENST00000471583.1_Missense_Mutation_p.L171H|RAD51B_ENST00000390683.3_Missense_Mutation_p.L171H|RAD51B_ENST00000488612.1_Missense_Mutation_p.L171H|RAD51B_ENST00000487861.1_Missense_Mutation_p.L171H	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	171					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAAGTTACTTTTGACAAGT	0.348000								Direct reversal of damage					27	125					0	0	0.005443	0	0
SCN7A	6332	broad.mit.edu	37	2	167328864	167328864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:167328864G>A	ENST00000409855.1	-	5	661	c.535C>T	c.(535-537)Cca>Tca	p.P179S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	179					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGTTCCATGGATCACCGAGG	0.353000													8	16					0	0	0.004482	0	0
DDX21	9188	broad.mit.edu	37	10	70719939	70719939	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:70719939T>C	ENST00000354185.4	+	2	563	c.465T>C	c.(463-465)ccT>ccC	p.P155P		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	155						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGGATTTCCTCATCCTGAAC	0.418000													34	31					0	0	0.005524	0	0
STIL	6491	broad.mit.edu	37	1	47717465	47717465	+	Silent	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:47717465C>A	ENST00000360380.3	-	18	3570	c.3207G>T	c.(3205-3207)ctG>ctT	p.L1069L	STIL_ENST00000243182.6_Silent_p.L1069L|STIL_ENST00000396221.2_Silent_p.L1052L|STIL_ENST00000371877.3_Silent_p.L1070L|STIL_ENST00000337817.5_Silent_p.L1069L			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1069					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)				TTAAATATTTCAGAGCTATAG	0.403000													49	49					1.83081e-24	3.14891e-24	0.003610	1	0
HBB	3043	broad.mit.edu	37	11	5247939	5247939	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:5247939C>T	ENST00000335295.3	-	2	358	c.183G>A	c.(181-183)gtG>gtA	p.V61V		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	61			V -> A (in Collingwood; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CATGAGCCTTCACCTTAGGGT	0.557000									Sickle Cell Trait				32	30					0	0	0.001786	0	0
OR13C3	138803	broad.mit.edu	37	9	107298603	107298603	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:107298603G>A	ENST00000374781.2	-	1	534	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCTCAGGATGATGGGGTATC	0.478000													49	72					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38945410	38945410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38945410C>T	ENST00000450244.1	-	12	1986	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	SCN11A_ENST00000456224.3_Missense_Mutation_p.M596I|SCN11A_ENST00000444237.2_Missense_Mutation_p.M596I|SCN11A_ENST00000302328.3_Missense_Mutation_p.M596I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	596					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCTCCATGGCCAAGA	0.398000													22	53					0	0	0.001882	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437436	5437436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:5437436C>T	ENST00000380419.3	-	3	287	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G44R	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	84					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTCCGGATCCCATCTGCAGAG	0.592000													53	57					0	0	0.003610	0	0
TSN	7247	broad.mit.edu	37	2	122519010	122519010	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:122519010T>G	ENST00000389682.3	+	4	530	c.283T>G	c.(283-285)Ttg>Gtg	p.L95V	TSN_ENST00000536142.1_Missense_Mutation_p.L95V|TSN_ENST00000409193.1_Missense_Mutation_p.L90V|TSN_ENST00000498545.1_Intron	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	95					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GAGGTTTGTGTTGCAGCGCTT	0.423000													29	120					0	0	0.002445	0	0
FGD4	121512	broad.mit.edu	37	12	32777368	32777368	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:32777368C>G	ENST00000427716.2	+	12	1948	c.1524C>G	c.(1522-1524)gaC>gaG	p.D508E	FGD4_ENST00000534526.2_Missense_Mutation_p.D645E|FGD4_ENST00000266482.3_Missense_Mutation_p.D260E|FGD4_ENST00000381025.3_Missense_Mutation_p.D260E|FGD4_ENST00000546442.1_Missense_Mutation_p.D415E|FGD4_ENST00000531134.1_Missense_Mutation_p.D593E|FGD4_ENST00000525053.1_Missense_Mutation_p.D620E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	508	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTGCGCAAGACAAAGAAGAAT	0.353000													5	18					0	0	0.001168	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:69033271G>A	ENST00000288368.4	+	30	3988	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R1237R(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000													48	44					0	0	0.003610	0	0
EGFR	1956	broad.mit.edu	37	7	55224486	55224486	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:55224486C>A	ENST00000275493.2	+	10	1345	c.1168C>A	c.(1168-1170)Cag>Aag	p.Q390K	EGFR_ENST00000344576.2_Missense_Mutation_p.Q390K|EGFR_ENST00000455089.1_Missense_Mutation_p.Q345K|EGFR_ENST00000454757.2_Missense_Mutation_p.Q337K|EGFR_ENST00000342916.3_Missense_Mutation_p.Q390K|EGFR_ENST00000442591.1_Missense_Mutation_p.Q390K|EGFR_ENST00000420316.2_Missense_Mutation_p.Q390K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	390					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTGGATCCACAGGAACTGGA	0.373000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	49					0.000978159	0.00164187	0.000978	1	0
RAMP3	10268	broad.mit.edu	37	7	45222948	45222948	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:45222948T>C	ENST00000242249.4	+	3	422	c.384T>C	c.(382-384)gtT>gtC	p.V128V	RAMP3_ENST00000496212.1_Silent_p.V128V|RAMP3_ENST00000481345.1_Silent_p.V128V	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	128					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TACCCGTCGTTCTGACTGTCG	0.617000													28	142					0	0	0.002096	0	0
SYK	6850	broad.mit.edu	37	9	93637034	93637034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:93637034G>A	ENST00000375754.4	+	9	1232	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	SYK_ENST00000375746.1_Missense_Mutation_p.E362K|SYK_ENST00000375751.4_Missense_Mutation_p.E339K|SYK_ENST00000375747.1_Missense_Mutation_p.E339K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	362	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CAGGCCCAAGGAGGTTTACCT	0.527000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								65	99					0	0	0.003610	0	0
ADCK2	90956	broad.mit.edu	37	7	140379030	140379030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140379030C>T	ENST00000072869.4	+	3	1334	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	ADCK2_ENST00000476491.1_Missense_Mutation_p.P386S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	386	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CGTCAAGTTCCCCACCCCTCT	0.498000													123	78					0	0	0.003610	0	0
ABI3BP	25890	broad.mit.edu	37	3	100469405	100469405	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:100469405A>G	ENST00000471714.1	-	67	5377	c.5268T>C	c.(5266-5268)ggT>ggC	p.G1756G	ABI3BP_ENST00000284322.5_Silent_p.G1054G|ABI3BP_ENST00000383691.4_Silent_p.G1008G			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1054						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGTGTGACCACCTATTTCTC	0.383000													31	138					0	0	0.003755	0	0
LY6K	54742	broad.mit.edu	37	8	143782022	143782022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:143782022G>A	ENST00000522591.1	+	1	133	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	LY6K_ENST00000561179.1_Missense_Mutation_p.R84Q|LY6K_ENST00000518841.1_Missense_Mutation_p.R26Q|LY6K_ENST00000519387.1_Missense_Mutation_p.R26Q|LY6K_ENST00000292430.6_Missense_Mutation_p.R26Q			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	26						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGAGACAACGAGATCCAGAG	0.711000													6	4					0	0	0.001168	0	0
RELN	5649	broad.mit.edu	37	7	103270546	103270546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:103270546G>A	ENST00000424685.2	-	20	2702	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	RELN_ENST00000343529.5_Missense_Mutation_p.S848F|RELN_ENST00000428762.1_Missense_Mutation_p.S848F			P78509	RELN_HUMAN	reelin	848					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCTCTCTGGGAAGAATGATA	0.393000													23	70					0	0	0.005443	0	0
SCN4A	6329	broad.mit.edu	37	17	62022736	62022736	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62022736A>C	ENST00000578147.1	-	19	3780	c.3704T>G	c.(3703-3705)cTc>cGc	p.L1235R	SCN4A_ENST00000435607.1_Missense_Mutation_p.L1235R			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1235					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGAGGGAGAGGTAGCCCAG	0.617000													6	37					0	0	0.001168	0	0
MLXIP	22877	broad.mit.edu	37	12	122625529	122625529	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:122625529A>G	ENST00000319080.6	+	16	2669	c.2537A>G	c.(2536-2538)gAg>gGg	p.E846G	MLXIP_ENST00000538698.1_Missense_Mutation_p.E453G			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	846	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCGCTGTTTGAGTCGTTCAAG	0.612000													9	77					0	0	0.006214	0	0
KMT2C	58508	broad.mit.edu	37	7	151851483	151851483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:151851483G>A	ENST00000355193.2	-	48	12397	c.12179C>T	c.(12178-12180)cCc>cTc	p.P4060L	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.P4003L					lysine (K)-specific methyltransferase 2C																		AGAGGATGAGGGAACAAAACT	0.507000													97	117					0	0	0.003610	0	0
LPGAT1	9926	broad.mit.edu	37	1	211956806	211956806	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:211956806C>T	ENST00000366997.4	-	5	718	c.492G>A	c.(490-492)aaG>aaA	p.K164K	LPGAT1_ENST00000366996.1_Silent_p.K164K	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	164					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CTAAGTGCTTCTTGAGAAGCA	0.403000													21	95					0	0	0.002299	0	0
CELSR1	9620	broad.mit.edu	37	22	46929665	46929665	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:46929665A>G	ENST00000262738.3	-	1	3402	c.3403T>C	c.(3403-3405)Tca>Cca	p.S1135P	CELSR1_ENST00000395964.1_Missense_Mutation_p.S1135P|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1135	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGCTGTCTGACACGTCGGGG	0.617000													12	56					0	0	0.000978	0	0
DAPK1	1612	broad.mit.edu	37	9	90322084	90322084	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:90322084C>T	ENST00000469640.2	+	27	4548	c.4173C>T	c.(4171-4173)acC>acT	p.T1391T	DAPK1_ENST00000408954.3_Silent_p.T1366T|DAPK1_ENST00000491893.1_Silent_p.T1300T|DAPK1_ENST00000472284.1_Silent_p.T1366T|DAPK1_ENST00000358077.5_Silent_p.T1366T			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1366	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGGAATGGACCACCTACCCTG	0.602000									Chronic Lymphocytic Leukemia, Familial Clustering of				14	17					0	0	0.001855	0	0
NME9	347736	broad.mit.edu	37	3	138037005	138037005	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:138037005G>A	ENST00000383180.2	-	6	423	c.186C>T	c.(184-186)acC>acT	p.T62T	NME9_ENST00000333911.3_Silent_p.T84T|NME9_ENST00000536478.1_Silent_p.T62T|NME9_ENST00000317876.4_Silent_p.T62T|NME9_ENST00000484930.1_Intron|NME9_ENST00000341790.5_Intron	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	84	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAAACAGAAAGGTTGGCTCGC	0.423000													96	245					0	0	0.003610	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825929	111825929	+	RNA	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:111825929C>T	ENST00000369743.4	+	0	1294					NR_003928.1																						ACATCCATGTCATGACCTATG	0.532000													19	20					0	0	0.001523	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671713	238671713	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:238671713G>C	ENST00000244815.5	+	10	1525	c.1285G>C	c.(1285-1287)Gat>Cat	p.D429H	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D397H|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.D453H	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	453					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTTTATCATGATGACAAATG	0.498000													20	78					0	0	0.007413	0	0
C2orf71	388939	broad.mit.edu	37	2	29295010	29295010	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:29295010G>A	ENST00000331664.5	-	1	2117	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	706					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCCTGATGGGATGGCATTTG	0.498000													27	61					0	0	0.004656	0	0
SKAP1	8631	broad.mit.edu	37	17	46423352	46423352	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:46423352C>T	ENST00000336915.6	-	4	264	c.195G>A	c.(193-195)caG>caA	p.Q65Q	SKAP1_ENST00000584924.1_Silent_p.Q65Q	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	65					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CAGAGCTGTCCTGTCCAATGT	0.428000													11	15					0	0	0.002450	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877863	38877863	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:38877863G>T	ENST00000339659.3	+	9	2960	c.1490G>T	c.(1489-1491)gGc>gTc	p.G497V	DYRK1A_ENST00000338785.3_Missense_Mutation_p.G506V|DYRK1A_ENST00000398956.2_Missense_Mutation_p.G506V|DYRK1A_ENST00000451934.1_Missense_Mutation_p.G506V|DYRK1A_ENST00000455387.2_Missense_Mutation_p.G278V|DYRK1A_ENST00000321219.8_Missense_Mutation_p.G506V|DYRK1A_ENST00000398960.2_Missense_Mutation_p.G506V	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	506					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTCTTCGGGCACCACCTCC	0.448000													12	118					1.67942e-08	2.85483e-08	0.006122	1	0
FAM160B2	64760	broad.mit.edu	37	8	21959688	21959688	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:21959688A>G	ENST00000289921.7	+	15	1900	c.1854A>G	c.(1852-1854)ccA>ccG	p.P618P		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	618										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TCCTACAGCCATACAGCCTGA	0.602000													9	37					0	0	0.006214	0	0
CDH7	1005	broad.mit.edu	37	18	63547870	63547870	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:63547870A>C	ENST00000397968.2	+	12	2524	c.2098A>C	c.(2098-2100)Agc>Cgc	p.S700R	CDH7_ENST00000323011.3_Missense_Mutation_p.S700R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTTTAAAAGCATCCCAGA	0.453000													18	64					0	0	0.007413	0	0
LRP6	4040	broad.mit.edu	37	12	12332832	12332832	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:12332832T>C	ENST00000261349.4	-	7	1533	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	LRP6_ENST00000543091.1_Missense_Mutation_p.N486S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	486	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGAGAAGTGTTAACCAATAC	0.413000													100	396					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7647853	7647853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:7647853C>T	ENST00000359156.4	-	6	1446	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CD163_ENST00000432237.2_Missense_Mutation_p.G415E|CD163_ENST00000541972.1_Missense_Mutation_p.G403E|CD163_ENST00000396620.3_Missense_Mutation_p.G415E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	415	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATCCACATCCCAGCTGCCT	0.468000													38	76					0	0	0.006999	0	0
NME9	347736	broad.mit.edu	37	3	138037006	138037006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:138037006G>A	ENST00000383180.2	-	6	422	c.185C>T	c.(184-186)aCc>aTc	p.T62I	NME9_ENST00000333911.3_Missense_Mutation_p.T84I|NME9_ENST00000536478.1_Missense_Mutation_p.T62I|NME9_ENST00000317876.4_Missense_Mutation_p.T62I|NME9_ENST00000484930.1_Intron|NME9_ENST00000341790.5_Intron	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	84	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.T62N(1)									AAACAGAAAGGTTGGCTCGCA	0.428000													97	248					0	0	0.003610	0	0
LILRB1	10859	broad.mit.edu	37	19	55142722	55142722	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:55142722G>A	ENST00000396331.1	+	4	392	c.34_splice	c.e4-1	p.G12_splice	LILRB1_ENST00000434867.2_Splice_Site_p.G12_splice|LILRB1_ENST00000324602.7_Splice_Site_p.G12_splice|LILRB1_ENST00000427581.2_Splice_Site_p.G48_splice|LILRB1_ENST00000396315.1_Splice_Site_p.G12_splice|LILRB1_ENST00000396317.1_Splice_Site_p.G12_splice|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396327.3_Splice_Site_p.G12_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Splice_Site_p.G12_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	12					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCTTCCAGGGCTGAGTCTG	0.662000										HNSCC(37;0.09)			17	35					0	0	0.007413	0	0
RASA2	5922	broad.mit.edu	37	3	141272713	141272713	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:141272713A>T	ENST00000286364.3	+	6	577	c.542A>T	c.(541-543)cAt>cTt	p.H181L	RASA2_ENST00000452898.1_Missense_Mutation_p.H181L			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	181	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGGCATGCCATGGGTTGCCT	0.328000													23	140					0	0	0.001786	0	0
TNK2	10188	broad.mit.edu	37	3	195594769	195594769	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:195594769G>A	ENST00000333602.6	-	12	2972	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	TNK2_ENST00000392400.1_Silent_p.S785S|TNK2_ENST00000428187.1_Silent_p.S817S|TNK2_ENST00000381916.2_Silent_p.S863S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	785	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGCCTTGAGGGGACAGGGGCT	0.716000													5	23					0	0	0.000602	0	0
GMEB2	26205	broad.mit.edu	37	20	62222007	62222007	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:62222007A>G	ENST00000266068.1	-	9	1506	c.1028T>C	c.(1027-1029)gTg>gCg	p.V343A	GMEB2_ENST00000370069.1_Missense_Mutation_p.V292A|GMEB2_ENST00000370077.1_Missense_Mutation_p.V343A			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	343					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGTCATGAGCACGTTGCTGAG	0.652000													7	21					0	0	0.001984	0	0
RAC1	5879	broad.mit.edu	37	7	6426848	6426848	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:6426848T>A	ENST00000348035.4	+	2	254	c.41T>A	c.(40-42)gTa>gAa	p.V14E	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.V14E	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	14					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TTTAGAGCTGTAGGTAAAACT	0.313000													20	115					0	0	0.008871	0	0
ZC3H14	79882	broad.mit.edu	37	14	89034463	89034463	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:89034463T>C	ENST00000251038.5	+	3	385	c.160T>C	c.(160-162)Ttt>Ctt	p.F54L	ZC3H14_ENST00000393514.5_Missense_Mutation_p.F54L|ZC3H14_ENST00000359301.3_Missense_Mutation_p.F20L|ZC3H14_ENST00000336693.4_Missense_Mutation_p.F20L|ZC3H14_ENST00000302216.8_Missense_Mutation_p.F54L|ZC3H14_ENST00000555755.1_Missense_Mutation_p.F54L|ZC3H14_ENST00000556945.1_Missense_Mutation_p.F54L|ZC3H14_ENST00000557607.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	54						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCTGTCCCTGTTTCTAGGGAA	0.408000													6	25					0	0	0.003080	0	0
VPS39	23339	broad.mit.edu	37	15	42481343	42481343	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:42481343T>C	ENST00000318006.5	-	5	473	c.311A>G	c.(310-312)aAg>aGg	p.K104R	VPS39_ENST00000348544.4_Missense_Mutation_p.K115R	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	115	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGATGCTCCCTTTGCCTTTGA	0.373000													10	32					0	0	0.001368	0	0
PIM1	5292	broad.mit.edu	37	6	37141788	37141788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:37141788C>T	ENST00000373509.5	+	6	1236	c.863C>T	c.(862-864)cCa>cTa	p.P288L	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	379	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGAACCATCCATGGATGCAA	0.537000			T	BCL6	NHL								17	38					0	0	0.004990	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70781180	70781180	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:70781180A>G	ENST00000370944.4	-	4	960	c.647T>C	c.(646-648)tTa>tCa	p.L216S	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L181S	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	216					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CAGGGCTTTTAATAATCGAGG	0.289000													17	92					0	0	0.008871	0	0
PLCD3	113026	broad.mit.edu	37	17	43194047	43194047	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:43194047C>T	ENST00000322765.5	-	8	1478	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	455	PI-PLC X-box.				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)	GCGCCTGTGTCACCAGCATGT	0.672000													21	57					0	0	0.001523	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192849	132192849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192849G>A	ENST00000359827.3	-	2	1566	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	PLXNA4_ENST00000423507.2_Missense_Mutation_p.R202W|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R202W|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R202W			Q9HCM2	PLXA4_HUMAN	plexin A4	202	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCAGTTTCCGGCTGGAGATG	0.527000													15	208					0	0	0.001523	0	0
CDK20	23552	broad.mit.edu	37	9	90584717	90584717	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:90584717G>A	ENST00000375883.3	-	5	924	c.618C>T	c.(616-618)gtC>gtT	p.V206V	CDK20_ENST00000336654.5_Silent_p.V219V|CDK20_ENST00000605159.1_Silent_p.V206V|CDK20_ENST00000325303.8_Silent_p.V227V|CDK20_ENST00000375871.4_Intron	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	227	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAACCGGCCAGACTTGAGGGT	0.567000													14	48					0	0	0.003163	0	0
SPRY3	10251	broad.mit.edu	37	X	155003647	155003647	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:155003647C>T	ENST00000302805.2	+	2	545	c.114C>T	c.(112-114)gcC>gcT	p.A38A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	38					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAACAGGCCCTCTCCAGCC	0.522000													59	53					0	0	0.003610	0	0
CD97	976	broad.mit.edu	37	19	14512300	14512300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:14512300C>T	ENST00000242786.5	+	10	1080	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	CD97_ENST00000358600.3_Missense_Mutation_p.L241F|CD97_ENST00000357355.3_Missense_Mutation_p.L285F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	334					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTCTCAAACCTTGAAGATAT	0.567000													15	35					0	0	0.006122	0	0
CENPF	1063	broad.mit.edu	37	1	214830532	214830532	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:214830532T>C	ENST00000366955.3	+	18	8910	c.8742T>C	c.(8740-8742)ccT>ccC	p.P2914P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3010	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCAATCCCTTCTGTTACTG	0.468000													24	204					0	0	0.003954	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162052	12162052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:12162052C>T	ENST00000379388.2	+	8	7200	c.6868C>T	c.(6868-6870)Ccg>Tcg	p.P2290S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P155S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2290					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGACACAATTCCGTCTGTAGA	0.507000													28	57					0	0	0.007291	0	0
CCBL1	883	broad.mit.edu	37	9	131598136	131598136	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:131598136G>A	ENST00000436267.2	-	11	1208	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CCBL1_ENST00000320665.6_Silent_p.V209V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Silent_p.V259V			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	259					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CTGGACCCAGGACCCAGCCCA	0.617000													4	16					0	0	0.000248	0	0
NCOR2	9612	broad.mit.edu	37	12	124817777	124817777	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:124817777A>G	ENST00000356219.3	-	43	6830	c.6675T>C	c.(6673-6675)ggT>ggC	p.G2225G	NCOR2_ENST00000404121.2_Silent_p.G1779G|NCOR2_ENST00000397355.1_Silent_p.G2209G|NCOR2_ENST00000429285.2_Silent_p.G2208G|NCOR2_ENST00000405201.1_Silent_p.G2218G|NCOR2_ENST00000404621.1_Silent_p.G2208G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2229					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CAGGTTCAATACCGTCCTCAC	0.627000													9	30					0	0	0.008291	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270088	36270088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36270088G>A	ENST00000394571.2	+	6	1226	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G323E|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G314E	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	409	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAACCGTCTGGATCACCAGCC	0.607000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	52					0	0	0.001882	0	0
ILF3	3609	broad.mit.edu	37	19	10793271	10793271	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:10793271A>G	ENST00000449870.1	+	13	1756	c.1439A>G	c.(1438-1440)gAg>gGg	p.E480G	ILF3_ENST00000318511.3_Missense_Mutation_p.E480G|ILF3_ENST00000407004.3_Missense_Mutation_p.E480G|ILF3_ENST00000250241.8_Missense_Mutation_p.E480G|ILF3_ENST00000589998.1_Missense_Mutation_p.E480G|ILF3_ENST00000590261.1_Missense_Mutation_p.E480G|ILF3_ENST00000420083.1_Missense_Mutation_p.E480G|ILF3_ENST00000588657.1_Missense_Mutation_p.E480G|ILF3_ENST00000592763.1_Missense_Mutation_p.E480G	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	480					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCAAGGGGGAGGACTCGGCT	0.647000													6	44					0	0	0.001168	0	0
NCOR2	9612	broad.mit.edu	37	12	124911290	124911290	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:124911290A>G	ENST00000356219.3	-	12	1361	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.A402A|NCOR2_ENST00000429285.2_Silent_p.A401A|NCOR2_ENST00000405201.1_Silent_p.A402A|NCOR2_ENST00000404621.1_Silent_p.A401A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	402					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGCTGGTCAGCGTCGTACA	0.597000													16	70					0	0	0.006122	0	0
CENPF	1063	broad.mit.edu	37	1	214826299	214826299	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:214826299T>C	ENST00000366955.3	+	16	8457	c.8289T>C	c.(8287-8289)acT>acC	p.T2763T	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2859	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAAAGCTACTACTCAGATTT	0.328000													22	178					0	0	0.002780	0	0
TCF20	6942	broad.mit.edu	37	22	42609368	42609368	+	Silent	SNP	A	A	G	rs139885100		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:42609368A>G	ENST00000359486.3	-	1	2080	c.1944T>C	c.(1942-1944)agT>agC	p.S648S	TCF20_ENST00000335626.4_Silent_p.S648S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTGATGCATGACTGGTTTCCT	0.527000													15	54					0	0	0.002450	0	0
WDR83	84292	broad.mit.edu	37	19	12784099	12784099	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:12784099A>G	ENST00000418543.3	+	10	1116	c.767A>G	c.(766-768)gAc>gGc	p.D256G	WDR83_ENST00000242796.4_Missense_Mutation_p.D256G	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	256					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TGTTCTGAGGACGGGAAGGTG	0.567000													13	40					0	0	0.004990	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9932037	9932037	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:9932037A>G	ENST00000377263.1	-	4	397	c.86T>C	c.(85-87)aTg>aCg	p.M29T	CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.M29T|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.M29T|CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.M29T|CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.M29T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	29					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTTTGATCCCATCTTCCGCAG	0.652000													9	34					0	0	0.008291	0	0
XAB2	56949	broad.mit.edu	37	19	7685759	7685759	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:7685759G>A	ENST00000358368.4	-	14	1981	c.1944C>T	c.(1942-1944)acC>acT	p.T648T	XAB2_ENST00000534844.1_Silent_p.T645T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	648					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGATGCCGCGGGTGTGGGTGA	0.657000								Direct reversal of damage;Nucleotide excision repair (NER)					13	19					0	0	0.007413	0	0
PHF12	57649	broad.mit.edu	37	17	27240251	27240251	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:27240251A>G	ENST00000577226.1	-	9	1684	c.1338T>C	c.(1336-1338)caT>caC	p.H446H	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.H446H|PHF12_ENST00000268756.3_Silent_p.H446H			Q96QT6	PHF12_HUMAN	PHD finger protein 12	446	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TAGCAGATAAATGTTTCAATA	0.522000													22	123					0	0	0.002299	0	0
APOB	338	broad.mit.edu	37	2	21232936	21232936	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:21232936C>G	ENST00000233242.1	-	26	6931	c.6804G>C	c.(6802-6804)caG>caC	p.Q2268H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2268					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTCTTAAGCTGCTGCAGTT	0.358000													35	655					0	0	0.003271	0	0
ABCB11	8647	broad.mit.edu	37	2	169814520	169814520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:169814520C>T	ENST00000263817.6	-	19	2421	c.2297G>A	c.(2296-2298)gGg>gAg	p.G766E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	766	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGTGACTGTCCCGTTCACAGC	0.458000													15	31					0	0	0.002450	0	0
FRYL	285527	broad.mit.edu	37	4	48578211	48578211	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:48578211T>C	ENST00000264319.7	-	0	3161				FRYL_ENST00000507711.1_Missense_Mutation_p.T853A|FRYL_ENST00000537810.1_Missense_Mutation_p.T853A|FRYL_ENST00000503238.1_Missense_Mutation_p.T853A|FRYL_ENST00000358350.4_Missense_Mutation_p.T853A			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTGTGGTGGTATTTACTTTC	0.373000													15	68					0	0	0.003163	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963076	128963076	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:128963076A>G	ENST00000357166.6	-	4	600	c.209T>C	c.(208-210)gTa>gCa	p.V70A	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.V70A	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	70						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGCAGCAAATACAGGGATGGC	0.502000													13	34					0	0	0.003163	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171150	207171150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:207171150G>A	ENST00000374423.3	+	5	2284	c.1898G>A	c.(1897-1899)gGg>gAg	p.G633E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	633							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCTCACTTGGGACAGTTGCA	0.423000													39	85					0	0	0.002522	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642829	127642829	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127642829T>C	ENST00000405109.1	+	2	1392	c.925T>C	c.(925-927)Tat>Cat	p.Y309H	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y309H			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	309										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACGGAAAACCTATTTCATCTC	0.418000													31	62					0	0	0.002096	0	0
GFPT1	2673	broad.mit.edu	37	2	69565127	69565127	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:69565127A>G	ENST00000357308.4	-	15	1563	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	GFPT1_ENST00000361060.4_Missense_Mutation_p.V444A	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	462	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TGTGATCCCCACAGTTAAAGC	0.448000													16	129					0	0	0.004007	0	0
WDR48	57599	broad.mit.edu	37	3	39108073	39108073	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:39108073A>G	ENST00000302313.5	+	4	331	c.303A>G	c.(301-303)gtA>gtG	p.V101V	WDR48_ENST00000396258.3_Silent_p.V19V|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	101					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.V101V(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGTAAAAGTATGGAATGCAC	0.333000													8	43					0	0	0.008291	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:72190946G>A	ENST00000356056.5	-	25	4370	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000566885.1_Missense_Mutation_p.P920S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1281S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000													24	60					0	0	0.002780	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883061	4883061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:4883061G>A	ENST00000361571.5	-	8	1964	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L	CAMTA2_ENST00000348066.3_Missense_Mutation_p.P519L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P524L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P542L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P519L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P521L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	519					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGGATGCTTGGAGCTTCGTC	0.562000													43	103					0	0	0.002222	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247031	47247031	+	Silent	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:47247031C>A	ENST00000300404.2	+	11	1701	c.1642C>A	c.(1642-1644)Cgg>Agg	p.R548R	B4GALNT2_ENST00000504681.1_Silent_p.R462R|B4GALNT2_ENST00000393354.2_Silent_p.R488R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	548					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CACCCTCACCCGGGTCCAGTT	0.522000													9	40					2.17888e-05	3.68433e-05	0.006214	1	0
NRM	11270	broad.mit.edu	37	6	30656531	30656531	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:30656531G>C	ENST00000259953.4	-	5	1047	c.696C>G	c.(694-696)caC>caG	p.H232Q	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Missense_Mutation_p.H232Q|NRM_ENST00000376420.5_Missense_Mutation_p.H173Q	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	232	Leu-rich.					integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						GATCAAGCCCGTGAGCCAGGC	0.622000													19	47					0	0	0.006122	0	0
GDF9	2661	broad.mit.edu	37	5	132197533	132197533	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:132197533A>C	ENST00000378673.2	-	3	1979	c.1113T>G	c.(1111-1113)atT>atG	p.I371M	GDF9_ENST00000296875.2_Missense_Mutation_p.I371M			O60383	GDF9_HUMAN	growth differentiation factor 9	371					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGAGCCACAATCCAGTTGT	0.473000													32	30					0	0	0.002445	0	0
ZNF34	80778	broad.mit.edu	37	8	145999711	145999711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145999711G>A	ENST00000429371.2	-	6	713	c.560C>T	c.(559-561)tCa>tTa	p.S187L	ZNF34_ENST00000343459.4_Missense_Mutation_p.S208L	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTTGAGATATGATCTCTGTTC	0.408000													10	20					0	0	0.008291	0	0
SCRIB	23513	broad.mit.edu	37	8	144895650	144895650	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144895650A>G	ENST00000356994.2	-	5	499	c.493T>C	c.(493-495)Tcc>Ccc	p.S165P	SCRIB_ENST00000377533.3_Missense_Mutation_p.S84P|SCRIB_ENST00000320476.3_Missense_Mutation_p.S165P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	165	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGGCAGGGACTTGAGCAGG	0.647000													3	27					0	0	0.000248	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652281	115652281	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:115652281T>C	ENST00000374228.4	-	1	912	c.681A>G	c.(679-681)ctA>ctG	p.L227L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	227						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CAGGGACCTTTAGCACCAAAA	0.607000													9	20					0	0	0.000978	0	0
FLNC	2318	broad.mit.edu	37	7	128494182	128494182	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:128494182C>T	ENST00000325888.8	+	40	6900	c.6639C>T	c.(6637-6639)gtC>gtT	p.V2213V	FLNC_ENST00000346177.6_Silent_p.V2180V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2213	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACCCAGGTCGGCGGGGACC	0.697000													32	24					0	0	0.002445	0	0
ERF	2077	broad.mit.edu	37	19	42753179	42753179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42753179G>A	ENST00000222329.4	-	4	1242	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	ERF_ENST00000440177.2_Missense_Mutation_p.S287F|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	362	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGAGGCCGAGGAGGGGACCGG	0.692000													10	56					0	0	0.000978	0	0
COL6A3	1293	broad.mit.edu	37	2	238290040	238290040	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:238290040A>G	ENST00000295550.4	-	5	1867	c.1415T>C	c.(1414-1416)aTc>aCc	p.I472T	COL6A3_ENST00000392004.3_Missense_Mutation_p.I266T|COL6A3_ENST00000472056.1_Missense_Mutation_p.I65T|COL6A3_ENST00000353578.4_Missense_Mutation_p.I266T|COL6A3_ENST00000346358.4_Missense_Mutation_p.I472T|COL6A3_ENST00000347401.3_Missense_Mutation_p.I271T|COL6A3_ENST00000392003.2_Missense_Mutation_p.I65T|COL6A3_ENST00000409809.1_Missense_Mutation_p.I266T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	472	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGCCTCTGGATGACTTTAGC	0.473000													10	44					0	0	0.008291	0	0
TIGD5	84948	broad.mit.edu	37	8	144681413	144681413	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144681413A>G	ENST00000504548.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	TIGD5_ENST00000321385.3_Missense_Mutation_p.D398G	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	447					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCCCGCTGGACTTCATGCGC	0.672000													6	33					0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:55534779C>T	ENST00000220676.1	+	3	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	240					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATACTTGCTTCCTGCTAGATT	0.463000													41	43					0	0	0.006230	0	0
NUP210	23225	broad.mit.edu	37	3	13371985	13371985	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:13371985T>C	ENST00000254508.5	-	30	4167	c.4085A>G	c.(4084-4086)aAc>aGc	p.N1362S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1362					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATGGTTTGGTTGGCCCCAAA	0.453000													73	141					0	0	0.003610	0	0
SLU7	10569	broad.mit.edu	37	5	159830344	159830344	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:159830344C>G	ENST00000297151.4	-	16	2096	c.1709G>C	c.(1708-1710)aGa>aCa	p.R570T		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	570					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTTTCATTCTATATGCCTC	0.453000													6	123					0	0	0.001984	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121776	117121776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:117121776C>T	ENST00000310357.3	-	4	1540	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E332K|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	507					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTTTGTTTCCTGATCTGGG	0.423000													32	40					0	0	0.004289	0	0
OR4N5	390437	broad.mit.edu	37	14	20612527	20612527	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:20612527C>T	ENST00000333629.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGTGCTTCCTGGGCCTTC	0.527000													20	33					0	0	0.008871	0	0
C10orf2	56652	broad.mit.edu	37	10	102748512	102748512	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:102748512T>C	ENST00000370228.1	+	1	730	c.545T>C	c.(544-546)cTt>cCt	p.L182P	C10orf2_ENST00000311916.2_Missense_Mutation_p.L182P|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	182					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ATGTTTGGCCTTACCAAGGTT	0.557000													37	66					0	0	0.004289	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874778	75874778	+	Missense_Mutation	SNP	A	A	G	rs144436831	by1000genomes	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:75874778A>G	ENST00000266659.3	+	1	319	c.118A>G	c.(118-120)Atc>Gtc	p.I40V		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	40					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGCGTTCGAATCCATAACAA	0.378000													14	43					0	0	0.003163	0	0
ADAD1	132612	broad.mit.edu	37	4	123317410	123317410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:123317410G>A	ENST00000296513.2	+	7	787	c.602G>A	c.(601-603)gGg>gAg	p.G201E	ADAD1_ENST00000388724.2_Missense_Mutation_p.G201E|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.G183E	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	201					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCTAGAAGGGAGACATATT	0.274000													7	45					0	0	0.003080	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469584	35469584	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:35469584T>A	ENST00000381151.3	+	2	2599	c.2087T>A	c.(2086-2088)gTa>gAa	p.V696E	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	696						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGTTAAAGTAATACTAAAT	0.378000													64	411					0	0	0.003610	0	0
NLGN2	57555	broad.mit.edu	37	17	7319039	7319039	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7319039A>G	ENST00000302926.2	+	6	1320	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	NLGN2_ENST00000575301.1_Missense_Mutation_p.N416S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	416					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TTTGTGGACAACCTGTATGGC	0.562000													28	69					0	0	0.005443	0	0
NPHS1	4868	broad.mit.edu	37	19	36330311	36330311	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36330311G>A	ENST00000378910.5	-	22	2936	c.2937C>T	c.(2935-2937)gcC>gcT	p.A979A	NPHS1_ENST00000353632.6_Silent_p.A979A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	979	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTCCCCAGGGCCTCATACC	0.577000													14	33					0	0	0.004007	0	0
ANKS1B	56899	broad.mit.edu	37	12	99194899	99194899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:99194899C>T	ENST00000547776.2	-	20	3070	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E	ANKS1B_ENST00000547446.1_Missense_Mutation_p.G159E|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G214E|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G250E|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G540E|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G190E|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G190E|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G214E|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G30E|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G122E|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G274E|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G54E|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1024E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1024						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCCCAGTCTCCTGTCTGAAA	0.488000													10	16					0	0	0.001368	0	0
SF3B3	23450	broad.mit.edu	37	16	70595631	70595631	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:70595631T>C	ENST00000302516.5	+	17	2443	c.2232T>C	c.(2230-2232)ggT>ggC	p.G744G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	744					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGCATCGGGTTTTGCCTCGG	0.522000													17	92					0	0	0.004990	0	0
EPC1	80314	broad.mit.edu	37	10	32560702	32560702	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:32560702T>C	ENST00000319778.6	-	13	2451	c.2149A>G	c.(2149-2151)Act>Gct	p.T717A	EPC1_ENST00000263062.8_Missense_Mutation_p.T740A|EPC1_ENST00000375110.2_Missense_Mutation_p.T667A	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	740					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTGGCAGCAGTTACTTGATGA	0.418000													19	126					0	0	0.002299	0	0
BRD1	23774	broad.mit.edu	37	22	50216618	50216618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:50216618G>A	ENST00000216267.8	-	1	1834	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.P450S|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.P89S|BRD1_ENST00000404034.1_Missense_Mutation_p.P450S|BRD1_ENST00000457780.2_Missense_Mutation_p.P450S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	450					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGAATATAAGGAGCGCACACG	0.597000													41	68					0	0	0.002222	0	0
HOXA3	3200	broad.mit.edu	37	7	27148097	27148097	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:27148097T>C	ENST00000396352.4	-	3	968	c.769A>G	c.(769-771)Acg>Gcg	p.T257A	HOXA3_ENST00000317201.2_Missense_Mutation_p.T257A|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	257					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCGATGACGTTAGCATGCCC	0.572000													11	92					0	0	0.000978	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797899	124797899	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:124797899T>C	ENST00000334705.7	+	11	1126	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	FAM91A1_ENST00000521166.1_Missense_Mutation_p.F294L	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	294										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CCGATTGGGCTTTGCCCATAA	0.303000													18	142					0	0	0.001882	0	0
TNXB	7148	broad.mit.edu	37	6	32030067	32030067	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:32030067C>T	ENST00000375244.3	-	20	7236	c.7035G>A	c.(7033-7035)aaG>aaA	p.K2345K	TNXB_ENST00000375247.2_Silent_p.K2345K			P22105	TENX_HUMAN	tenascin XB	2407	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTGTTGCCTTGGGCTGCC	0.602000													117	242					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32049968	32049968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:32049968C>T	ENST00000375244.3	-	9	3782	c.3581G>A	c.(3580-3582)aGg>aAg	p.R1194K	TNXB_ENST00000375247.2_Missense_Mutation_p.R1194K			P22105	TENX_HUMAN	tenascin XB	1281	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCCCTGTCCCTGTACTGGAC	0.577000													109	178					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:55582479G>A	ENST00000361849.3	-	34	5407	c.5013C>T	c.(5011-5013)ttC>ttT	p.F1671F	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.F1646F|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Silent_p.F1669F|PCDH15_ENST00000395432.2_Silent_p.F1629F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Silent_p.F1600F|PCDH15_ENST00000395430.1_Silent_p.F1666F	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418000										HNSCC(58;0.16)			32	18					0	0	0.002445	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751991	139751991	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:139751991A>G	ENST00000445819.1	+	20	2566	c.2516A>G	c.(2515-2517)cAt>cGt	p.H839R	MAMDC4_ENST00000317446.2_Missense_Mutation_p.H760R|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	839	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)		GCCTCGGGCCATGCTGCCTGG	0.667000													5	42					0	0	0.000602	0	0
LHCGR	3973	broad.mit.edu	37	2	48915078	48915078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:48915078G>A	ENST00000294954.7	-	11	1879	c.1858C>T	c.(1858-1860)Cca>Tca	p.P620S	LHCGR_ENST00000344775.3_Missense_Mutation_p.P558S|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.P593S|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	620					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TACAGAAATGGATTGGCACAA	0.368000													43	72					0	0	0.003214	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908142	139908142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:139908142C>T	ENST00000297183.6	+	29	5735	c.5611C>T	c.(5611-5613)Cgc>Tgc	p.R1871C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1871C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R254C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1871C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGCATCCTCGCTTACCCAT	0.493000													23	19					0	0	0.002780	0	0
KIF5A	3798	broad.mit.edu	37	12	57965863	57965863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:57965863G>A	ENST00000455537.2	+	14	1656	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G372E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	461					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCCACCCGAGGAGACAACGAG	0.587000													11	31					0	0	0.000978	0	0
USP6NL	9712	broad.mit.edu	37	10	11504960	11504960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:11504960G>A	ENST00000379237.1	-	15	2361	c.1967C>T	c.(1966-1968)cCa>cTa	p.P656L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P673L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	656						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTAAACTGTGGAGAAGCAAA	0.552000													9	17					0	0	0.006214	0	0
WNT2	7472	broad.mit.edu	37	7	116918401	116918401	+	Silent	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:116918401A>C	ENST00000265441.3	-	5	1190	c.891T>G	c.(889-891)acT>acG	p.T297T		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	297					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N295_D302del(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCCCGGGAAGTCAGGTTGC	0.567000													14	15					0	0	0.001855	0	0
FAM134A	79137	broad.mit.edu	37	2	220047320	220047320	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:220047320A>G	ENST00000430297.2	+	9	1737	c.1601A>G	c.(1600-1602)gAc>gGc	p.D534G		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	534						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACAGTCAGACCAAGAAGCT	0.602000													9	59					0	0	0.006214	0	0
CD164	8763	broad.mit.edu	37	6	109690179	109690179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:109690179G>A	ENST00000368961.5	-	4	553	c.373C>T	c.(373-375)Cga>Tga	p.R125*	CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Nonsense_Mutation_p.R123*|CD164_ENST00000413644.2_Nonsense_Mutation_p.R157*|CD164_ENST00000512821.1_Intron|CD164_ENST00000310786.4_Nonsense_Mutation_p.R157*|CD164_ENST00000275080.7_Nonsense_Mutation_p.R144*|CD164_ENST00000324953.5_Nonsense_Mutation_p.R138*			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	157	Thr-rich.				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTAGACTTTCGCACAGGTTGT	0.378000													8	21					0	0	0.003080	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702710	26702710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26702710G>A	ENST00000396005.3	-	12	1676	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTAAATGAAGGCCCCAATGGC	0.468000													10	7					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179611474	179611474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179611474C>T	ENST00000360870.5	-	46	15875	c.15653G>A	c.(15652-15654)cGa>cAa	p.R5218Q	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8737	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5218Q(1)		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)			AGATTTATTTCGATACCATTT	0.373000													37	73					0	0	0.003755	0	0
COL23A1	91522	broad.mit.edu	37	5	177688739	177688739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:177688739C>T	ENST00000390654.3	-	11	1043	c.686G>A	c.(685-687)gGa>gAa	p.G229E	COL23A1_ENST00000407622.1_Missense_Mutation_p.G193E	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	229	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCTGGGGGTCCCTTTGGGCC	0.562000													19	23					0	0	0.003954	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197309	1197309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:1197309G>A	ENST00000401903.1	-	3	392	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P45S			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	45						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AATGCAAACGGACACTTATGT	0.393000													70	212					0	0	0.003610	0	0
PRKDC	5591	broad.mit.edu	37	8	48802901	48802901	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:48802901A>G	ENST00000314191.2	-	33	4041	c.3985T>C	c.(3985-3987)Tac>Cac	p.Y1329H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y1329H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1330					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGTAGTTGTACCTTTCTCCC	0.488000								Non-homologous end-joining					5	32					0	0	0.001168	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730157	55730157	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:55730157C>T	ENST00000379906.2	+	8	1423	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	SLC6A2_ENST00000561820.1_Silent_p.L390L|SLC6A2_ENST00000568943.1_Silent_p.L390L|SLC6A2_ENST00000566163.1_Silent_p.L345L|SLC6A2_ENST00000219833.8_Silent_p.L390L|SLC6A2_ENST00000567238.1_Silent_p.L285L|SLC6A2_ENST00000414754.3_Silent_p.L390L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	390					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTGTTCATCCTGTATCCAGA	0.517000													23	98					0	0	0.001882	0	0
PLCE1	51196	broad.mit.edu	37	10	95791712	95791712	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:95791712C>T	ENST00000260766.3	+	2	1543	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PLCE1_ENST00000371380.2_Silent_p.F303F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	303					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGAGGACTTCCCTGATAATT	0.388000													58	50					0	0	0.003610	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833649	61833649	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:61833649A>G	ENST00000370339.3	-	4	1984	c.1643T>C	c.(1642-1644)gTg>gCg	p.V548A	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V498A	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	548										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTTGCGCACCACCTCCTCCTC	0.557000													6	57					0	0	0.006214	0	0
SPECC1	92521	broad.mit.edu	37	17	20013794	20013794	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:20013794T>A	ENST00000395529.3	+	3	254	c.202T>A	c.(202-204)Tcg>Acg	p.S68T	SPECC1_ENST00000261503.5_Missense_Mutation_p.S68T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.S68T	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	68						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TACCGCTGCATCGGGGGTGGT	0.612000													11	50					0	0	0.008291	0	0
GLRA2	2742	broad.mit.edu	37	X	14748379	14748379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:14748379G>A	ENST00000218075.4	+	9	1661	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M377I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M288I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	377					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GTTATGGGATGGGTCACTGCC	0.468000													126	66					0	0	0.003610	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516207	118516207	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118516207T>C	ENST00000361417.2	+	17	3666	c.3255T>C	c.(3253-3255)ccT>ccC	p.P1085P	PHLDB1_ENST00000524713.1_Silent_p.P228P|PHLDB1_ENST00000527898.1_Silent_p.P136P|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.P1038P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1085										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTTCCCCCCTCTCATGCACC	0.652000													6	82					0	0	0.003080	0	0
GGA2	23062	broad.mit.edu	37	16	23505681	23505681	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:23505681C>G	ENST00000309859.4	-	3	277	c.195G>C	c.(193-195)tgG>tgC	p.W65C	GGA2_ENST00000567468.1_Missense_Mutation_p.W65C	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	65	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGTAGCCAGGGCGCAT	0.512000													12	56					0	0	0.003163	0	0
BNIP1	662	broad.mit.edu	37	5	172585810	172585810	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:172585810A>G	ENST00000231668.9	+	5	566	c.462A>G	c.(460-462)aaA>aaG	p.K154K	BNIP1_ENST00000352523.6_Intron|BNIP1_ENST00000351486.5_Silent_p.K111K|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	111					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTAGAGAAAGCAGAACTTC	0.428000													11	34					0	0	0.000978	0	0
PHF21A	51317	broad.mit.edu	37	11	45959822	45959822	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:45959822A>G	ENST00000257821.4	-	15	2117	c.1494T>C	c.(1492-1494)agT>agC	p.S498S	PHF21A_ENST00000323180.6_Silent_p.S451S|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000418153.2_Silent_p.S497S	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	497	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTAACTGGCCACTTTTTCTGC	0.403000													9	21					0	0	0.006214	0	0
SYNM	23336	broad.mit.edu	37	15	99670852	99670852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:99670852G>A	ENST00000336292.6	+	5	2404	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	SYNM_ENST00000328642.7_Missense_Mutation_p.E762K|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.E477K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	763	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GAAGCCGGAGGAGTTTTCCGT	0.577000													8	21					0	0	0.006214	0	0
ABCC12	94160	broad.mit.edu	37	16	48151211	48151211	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:48151211C>T	ENST00000311303.3	-	12	2091	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	ABCC12_ENST00000416054.1_Intron|ABCC12_ENST00000448542.1_Silent_p.Q582Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	582	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCAGGTCCTTCTGGAGGCCAC	0.587000													6	29					0	0	0.003080	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005902	57005902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:57005902C>T	ENST00000179765.5	-	7	1373	c.1174G>A	c.(1174-1176)Gca>Aca	p.A392T	BAZ2A_ENST00000379441.3_Missense_Mutation_p.A394T|BAZ2A_ENST00000551812.1_Missense_Mutation_p.A424T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A422T			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	424					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGTGAGGTTGCTGGATGTAGC	0.537000													6	42					0	0	0.001168	0	0
POMT2	29954	broad.mit.edu	37	14	77751909	77751909	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:77751909T>C	ENST00000261534.4	-	13	1601	c.1399A>G	c.(1399-1401)Atc>Gtc	p.I467V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGCACTTTGATCCGGTTTCCA	0.453000													94	424					0	0	0.003610	0	0
TPR	7175	broad.mit.edu	37	1	186291528	186291528	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:186291528T>C	ENST00000367478.3	-	45	6679	c.6383A>G	c.(6382-6384)gAt>gGt	p.D2128G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2128					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)		GTCTTCATCATCAAAAAAATG	0.338000			T	NTRK1	papillary thyroid								15	50					0	0	0.004007	0	0
SCN4A	6329	broad.mit.edu	37	17	62038588	62038588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62038588C>T	ENST00000578147.1	-	11	1886	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E604K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	604					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCAAAGTGCTCCGTCATGGGG	0.602000													20	31					0	0	0.008871	0	0
ACP6	51205	broad.mit.edu	37	1	147131117	147131117	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:147131117T>C	ENST00000369238.5	-	4	964	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	ACP6_ENST00000392988.2_Missense_Mutation_p.T173A	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	173					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAACAACGGGTGGACTCCAGA	0.418000													21	113					0	0	0.001882	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21819272	21819272	+	Silent	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:21819272A>C	ENST00000319481.3	-	16	1562	c.1356T>G	c.(1354-1356)acT>acG	p.T452T	OSBPL1A_ENST00000357041.4_Silent_p.T70T|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	452					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATGATGTTCAGTGGCCAGCG	0.443000													12	55					0	0	0.002450	0	0
NME8	51314	broad.mit.edu	37	7	37907318	37907318	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:37907318G>T	ENST00000199447.4	+	11	1008	c.636G>T	c.(634-636)gaG>gaT	p.E212D	NME8_ENST00000440017.1_Missense_Mutation_p.E212D|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	212	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACTTCGAAGAGTTTGTCTCTT	0.383000													6	60					2.0095e-06	3.41231e-06	0.001984	1	0
FBXW11	23291	broad.mit.edu	37	5	171327049	171327049	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:171327049A>G	ENST00000296933.6	-	4	760	c.390T>C	c.(388-390)tcT>tcC	p.S130S	FBXW11_ENST00000425623.2_Silent_p.S111S|FBXW11_ENST00000393802.2_Silent_p.S109S|FBXW11_ENST00000265094.5_Silent_p.S143S|FBXW11_ENST00000522891.1_5'UTR	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	143	F-box.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCACACAGAGACCTGGCAT	0.458000													61	113					0	0	0.003610	0	0
SEC23B	10483	broad.mit.edu	37	20	18523695	18523695	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:18523695T>C	ENST00000336714.3	+	14	1976	c.1544T>C	c.(1543-1545)aTa>aCa	p.I515T	SEC23B_ENST00000377475.3_Missense_Mutation_p.I515T|SEC23B_ENST00000262544.2_Missense_Mutation_p.I515T|SEC23B_ENST00000377465.1_Missense_Mutation_p.I515T	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	515					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CTCAGGCACATAGAAGCAGCA	0.547000													26	132					0	0	0.005443	0	0
OBSCN	84033	broad.mit.edu	37	1	228399500	228399500	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:228399500T>C	ENST00000570156.2	+	2	90	c.16T>C	c.(16-18)Ttc>Ctc	p.F6L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.F6L|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.F6L|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCAGCCACAGTTCAGCGGGGC	0.677000													6	21					0	0	0.003080	0	0
FZD1	8321	broad.mit.edu	37	7	90895933	90895933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:90895933C>T	ENST00000287934.2	+	1	2151	c.1738C>T	c.(1738-1740)Ccc>Tcc	p.P580S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	580					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACGCTATCCCCTGCCCTCA	0.642000													14	55					0	0	0.003163	0	0
PAPPA	5069	broad.mit.edu	37	9	119106930	119106930	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:119106930G>A	ENST00000328252.3	+	14	4089	c.3720G>A	c.(3718-3720)gtG>gtA	p.V1240V	PAPPA_ENST00000534838.1_Silent_p.V278V	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1240	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGTGTACTGTGAGCTGCCGGA	0.572000													24	23					0	0	0.003954	0	0
IDNK	414328	broad.mit.edu	37	9	86256507	86256507	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:86256507G>A	ENST00000277124.8	+	5	919		c.e5+1		IDNK_ENST00000376417.4_Intron|IDNK_ENST00000405990.3_Splice_Site|IDNK_ENST00000376419.4_Splice_Site|IDNK_ENST00000454393.1_Splice_Site	NM_001256915.1	NP_001243844.1	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)						carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity										TTTTACTAAGGTAAGAGACCA	0.418000													28	76					0	0	0.008361	0	0
COL12A1	1303	broad.mit.edu	37	6	75861946	75861946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:75861946C>T	ENST00000322507.8	-	19	4045	c.3736G>A	c.(3736-3738)Gat>Aat	p.D1246N	COL12A1_ENST00000345356.6_Missense_Mutation_p.D82N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1246N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1246N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1246	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.D1246N(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTTCTGGGATCCCCACTATAC	0.443000													13	29					0	0	0.001368	0	0
GATA2	2624	broad.mit.edu	37	3	128199875	128199875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:128199875G>A	ENST00000341105.2	-	6	1761	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.T477I|GATA2_ENST00000430265.2_Missense_Mutation_p.T463I	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	477					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCCCATGGCGGTCACCATGCT	0.667000			Mis		AML(CML blast transformation)								10	28					0	0	0.000978	0	0
USP7	7874	broad.mit.edu	37	16	9009193	9009193	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:9009193G>A	ENST00000344836.4	-	10	1194	c.996C>T	c.(994-996)atC>atT	p.I332I	USP7_ENST00000381886.4_Silent_p.I316I|USP7_ENST00000535863.1_Silent_p.I233I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	332					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTTACACTGGATATAGGACT	0.303000													28	67					0	0	0.002445	0	0
TCF25	22980	broad.mit.edu	37	16	89977638	89977638	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:89977638T>G	ENST00000263346.8	+	18	2079	c.2023T>G	c.(2023-2025)Tgg>Ggg	p.W675G	TCF25_ENST00000263347.7_3'UTR|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	675					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGAGGGGGAGTGGGACTGAGC	0.607000													13	39					0	0	0.002450	0	0
SHC3	53358	broad.mit.edu	37	9	91690088	91690088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:91690088C>T	ENST00000375835.4	-	4	971	c.665G>A	c.(664-666)gGa>gAa	p.G222E	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	222	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GATGCTCATTCCCGCAAACTG	0.502000													21	56					0	0	0.001523	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23069647	23069647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:23069647C>T	ENST00000221132.3	-	2	449	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	129					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CACAACTCTCCCAAAGGGCTA	0.423000													16	19					0	0	0.004990	0	0
LCTL	197021	broad.mit.edu	37	15	66857161	66857161	+	Silent	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:66857161C>A	ENST00000341509.5	-	2	266	c.135G>T	c.(133-135)gtG>gtT	p.V45V	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	45					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAACTGCCCACGCCCCAGG	0.657000													5	87					0.00116845	0.00195718	0.001168	1	0
CD69	969	broad.mit.edu	37	12	9907776	9907776	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:9907776A>G	ENST00000228434.3	-	3	349	c.269T>C	c.(268-270)gTt>gCt	p.V90A	CD69_ENST00000536709.1_Missense_Mutation_p.V90A	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	90						integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTGGTAGCCAACCCAGTCCTC	0.448000													16	120					0	0	0.007413	0	0
GJB4	127534	broad.mit.edu	37	1	35227570	35227570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:35227570C>T	ENST00000339480.1	+	2	1085	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	239					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCATATGTCCTCTCCCAGGG	0.622000													15	29					0	0	0.008871	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873912	48873912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:48873912G>A	ENST00000394754.1	+	8	2935	c.2821G>A	c.(2821-2823)Gaa>Aaa	p.E941K	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E894K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E941K|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E203K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E941K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E941K|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.E237K|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		894					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGTCATCAGGAAAGTTCTCA	0.413000													27	50					0	0	0.005443	0	0
A2ML1	144568	broad.mit.edu	37	12	8990163	8990163	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:8990163G>A	ENST00000299698.7	+	8	1035		c.e8+1			NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTCTGGACAGGTGAGTAAATG	0.542000													5	40					0	0	0.000602	0	0
SACM1L	22908	broad.mit.edu	37	3	45779074	45779074	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:45779074G>A	ENST00000389061.5	+	15	1443		c.e15-1		SACM1L_ENST00000541314.1_Splice_Site|SACM1L_ENST00000418611.1_Splice_Site	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)							Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTTATTCCAGAGACTAGGAG	0.348000													40	106					0	0	0.003214	0	0
TCF4	6925	broad.mit.edu	37	18	52921859	52921859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:52921859G>A	ENST00000354452.3	-	15	1830	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	TCF4_ENST00000537856.3_Missense_Mutation_p.P277S|TCF4_ENST00000564403.2_Missense_Mutation_p.P413S|TCF4_ENST00000565018.2_Missense_Mutation_p.P407S|TCF4_ENST00000570287.2_Missense_Mutation_p.P247S|TCF4_ENST00000566286.1_Missense_Mutation_p.P404S|TCF4_ENST00000540999.1_Missense_Mutation_p.P383S|TCF4_ENST00000457482.3_Missense_Mutation_p.P247S|TCF4_ENST00000566279.1_Missense_Mutation_p.P347S|TCF4_ENST00000537578.1_Missense_Mutation_p.P383S|TCF4_ENST00000398339.1_Missense_Mutation_p.P509S|TCF4_ENST00000570177.2_Missense_Mutation_p.P277S|TCF4_ENST00000564999.1_Missense_Mutation_p.P407S|TCF4_ENST00000356073.4_Missense_Mutation_p.P407S|TCF4_ENST00000568740.1_Missense_Mutation_p.P382S|TCF4_ENST00000568673.1_Missense_Mutation_p.P383S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000544241.2_Missense_Mutation_p.P336S|TCF4_ENST00000561831.3_Missense_Mutation_p.P247S|TCF4_ENST00000567880.1_Missense_Mutation_p.P347S|TCF4_ENST00000564228.1_Missense_Mutation_p.P336S|TCF4_ENST00000543082.1_Missense_Mutation_p.P365S|TCF4_ENST00000561992.1_Missense_Mutation_p.P277S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	407					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTGTGGATGGGCCCACTGCA	0.478000													14	17					0	0	0.001855	0	0
GPT	2875	broad.mit.edu	37	8	145731495	145731495	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145731495T>C	ENST00000394955.2	+	7	1160	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	GPT_ENST00000528431.1_Missense_Mutation_p.S313P	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	313					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCACTCCACCTCCAAGGGCTA	0.692000													4	43					0	0	0.000602	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687981	62687981	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:62687981A>C	ENST00000281156.4	-	4	751	c.473T>G	c.(472-474)tTc>tGc	p.F158C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGAACCAGGAATTTTTTAAT	0.353000													16	59					0	0	0.008871	0	0
UBA2	10054	broad.mit.edu	37	19	34959991	34959991	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:34959991T>C	ENST00000439527.2	+	17	1998	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D	UBA2_ENST00000592791.1_Silent_p.D122D|UBA2_ENST00000246548.4_Silent_p.D596D|UBA2_ENST00000588585.1_3'UTR			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	596					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGAAGAAGATTCTTCAAATA	0.398000													4	20					0	0	0.000248	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514649	56514649	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56514649T>C	ENST00000257940.2	+	3	579	c.303T>C	c.(301-303)gaT>gaC	p.D101D	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	101							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAAGGAGGATGAGGATGGCT	0.537000													17	91					0	0	0.007413	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596344	58596344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:58596344G>A	ENST00000240727.6	-	7	1640	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	414					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGCCGCAGGCATAGGGCTT	0.726000													5	9					0	0	0.000602	0	0
ESPNL	339768	broad.mit.edu	37	2	239039169	239039169	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:239039169T>C	ENST00000343063.3	+	9	2077	c.1814T>C	c.(1813-1815)cTg>cCg	p.L605P	ESPNL_ENST00000409169.1_Missense_Mutation_p.L561P|ESPNL_ENST00000409506.1_Missense_Mutation_p.L237P|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	605										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCCTGTCCCTGCTGCTGAAG	0.711000													3	9					0	0	0.000248	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809104	18809104	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:18809104C>A	ENST00000400664.1	+	1	1681	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	543						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)		ATTATCTCTTCGTGGTGTCCG	0.667000													28	31					2.12542e-12	3.64389e-12	0.006320	1	0
DLX4	1748	broad.mit.edu	37	17	48051171	48051171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:48051171C>T	ENST00000240306.3	+	3	882	c.587C>T	c.(586-588)cCc>cTc	p.P196L	DLX4_ENST00000411890.2_Missense_Mutation_p.P124L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	196					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCTGTGTCTCCCTGCTCCCCA	0.577000													19	56					0	0	0.001523	0	0
VPS13B	157680	broad.mit.edu	37	8	100588007	100588007	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:100588007A>G	ENST00000358544.2	+	32	5257	c.5146A>G	c.(5146-5148)Act>Gct	p.T1716A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1691A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1716					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATTTGCATACTGAGGTTAG	0.378000													6	58					0	0	0.001168	0	0
ZFP28	140612	broad.mit.edu	37	19	57065549	57065549	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:57065549A>G	ENST00000301318.3	+	8	1466	c.1395A>G	c.(1393-1395)cgA>cgG	p.R465R	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTTTGCCCGACACCAGAGAT	0.453000													10	50					0	0	0.008291	0	0
CCBL1	883	broad.mit.edu	37	9	131598135	131598135	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:131598135G>A	ENST00000436267.2	-	11	1209	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	CCBL1_ENST00000320665.6_Silent_p.L210L|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Silent_p.L260L			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	260					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TCTGGACCCAGGACCCAGCCC	0.622000													4	16					0	0	0.000248	0	0
C1S	716	broad.mit.edu	37	12	7171655	7171655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:7171655C>T	ENST00000406697.1	+	8	1104	c.476C>T	c.(475-477)cCc>cTc	p.P159L	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.P159L|C1S_ENST00000360817.5_Missense_Mutation_p.P159L			P09871	C1S_HUMAN	complement component 1, s subcomponent	159	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGCTCCTGCCCCCCGGAATAT	0.453000													49	88					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				93	47					0	0	0.003610	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074717	106074717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:106074717G>A	ENST00000278071.2	-	3	1545	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L365F|ITPRIP_ENST00000337478.1_Missense_Mutation_p.L365F	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	365						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCCTGGGAAGGTGGGAGACA	0.562000													48	34					0	0	0.003610	0	0
VSTM1	284415	broad.mit.edu	37	19	54544314	54544314	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:54544314C>T	ENST00000338372.2	-	9	787	c.612G>A	c.(610-612)gtG>gtA	p.V204V	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Silent_p.V116V|VSTM1_ENST00000376626.1_Silent_p.V173V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	204						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAGCATAGGTCACTCCTTGGG	0.502000													4	15					0	0	0.000602	0	0
KRT2	3849	broad.mit.edu	37	12	53043752	53043752	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53043752C>T	ENST00000309680.3	-	3	828	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	269	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGATTTCATCCTCATACCTAT	0.433000													21	69					0	0	0.003954	0	0
FCER1A	2205	broad.mit.edu	37	1	159273870	159273870	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:159273870A>C	ENST00000368115.1	+	4	328	c.229A>C	c.(229-231)Agt>Cgt	p.S77R	FCER1A_ENST00000368114.1_Missense_Mutation_p.S44R	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	77	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GACAAATTCAAGTTTGAATAT	0.393000													15	98					0	0	0.003163	0	0
MAPK14	1432	broad.mit.edu	37	6	36020474	36020474	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36020474A>G	ENST00000229795.3	+	2	563		c.e2-1		MAPK14_ENST00000468133.1_Splice_Site|MAPK14_ENST00000229794.4_Splice_Site|MAPK14_ENST00000310795.4_Splice_Site	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TTTTCTCCTTAGTGCTGCTTT	0.373000													16	63					0	0	0.007413	0	0
VIT	5212	broad.mit.edu	37	2	36943526	36943526	+	Missense_Mutation	SNP	G	G	C	rs148935502		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:36943526G>C	ENST00000379242.3	+	2	315	c.13G>C	c.(13-15)Gtt>Ctt	p.V5L	VIT_ENST00000401530.1_Missense_Mutation_p.V5L|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.V5L|VIT_ENST00000457137.2_Missense_Mutation_p.V5L|VIT_ENST00000404084.1_Missense_Mutation_p.V5L|VIT_ENST00000379241.3_Missense_Mutation_p.V5L	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	5						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGGACTGTTGTTCTCACTAT	0.368000													12	73					0	0	0.001368	0	0
LYVE1	10894	broad.mit.edu	37	11	10580718	10580718	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:10580718G>A	ENST00000256178.3	-	6	1067	c.909C>T	c.(907-909)aaC>aaT	p.N303N	MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Silent_p.N199N	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	303					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACTCTTCTGGGTTTTTATCAG	0.433000													46	63					0	0	0.003610	0	0
KRT85	3891	broad.mit.edu	37	12	52757039	52757039	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52757039G>A	ENST00000257901.3	-	5	1017	c.942C>T	c.(940-942)taC>taT	p.Y314Y	KRT85_ENST00000544265.1_Silent_p.Y102Y	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	314	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTTGCTACGGTACCAGGACT	0.547000													11	19					0	0	0.001855	0	0
DHX40	79665	broad.mit.edu	37	17	57644043	57644043	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:57644043G>A	ENST00000251241.4	+	2	315	c.168G>A	c.(166-168)caG>caA	p.Q56Q	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Silent_p.Q56Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	56							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCTATTCAGAAACAAAGAA	0.353000													15	32					0	0	0.002450	0	0
LIPE	3991	broad.mit.edu	37	19	42930869	42930869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42930869C>T	ENST00000244289.4	-	1	709	c.433G>A	c.(433-435)Gag>Aag	p.E145K	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	145					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGAGGTGGCTCTCCTGGCCCA	0.567000													32	29					0	0	0.001786	0	0
FGF18	8817	broad.mit.edu	37	5	170863160	170863160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:170863160G>A	ENST00000274625.5	+	3	677	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	45					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGGGCTCGGGACGATGTGAG	0.632000													10	12					0	0	0.000978	0	0
ZNF334	55713	broad.mit.edu	37	20	45130666	45130666	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:45130666A>G	ENST00000457685.2	-	6	2521	c.1198T>C	c.(1198-1200)Tgt>Cgt	p.C400R	ZNF334_ENST00000347606.4_Missense_Mutation_p.C438R|ZNF334_ENST00000593880.1_Missense_Mutation_p.C461R			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATTTTCCACATTGACTGCAT	0.373000													18	109					0	0	0.008871	0	0
SGCG	6445	broad.mit.edu	37	13	23808834	23808834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:23808834G>A	ENST00000218867.3	+	3	404	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SGCG_ENST00000537476.1_Missense_Mutation_p.E94K|SGCG_ENST00000545013.1_Missense_Mutation_p.E94K	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	94					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GTATGCCAAAGAAATACACTC	0.333000													34	80					0	0	0.004289	0	0
TMX3	54495	broad.mit.edu	37	18	66354936	66354936	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:66354936T>C	ENST00000299608.2	-	10	1020	c.704A>G	c.(703-705)gAt>gGt	p.D235G		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	235					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGAAGCCATCCATAGCAAG	0.338000													19	130					0	0	0.001882	0	0
LPPR3	79948	broad.mit.edu	37	19	814959	814959	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:814959A>G	ENST00000359894.2	-	5	589	c.526T>C	c.(526-528)Tcc>Ccc	p.S176P	LPPR3_ENST00000520876.3_Missense_Mutation_p.S176P	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		176						integral to membrane	phosphatidate phosphatase activity										ACCTCGCAGGACGTGCCCAGG	0.632000													17	18					0	0	0.004007	0	0
C1orf112	55732	broad.mit.edu	37	1	169796270	169796270	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:169796270A>G	ENST00000286031.6	+	11	1627	c.927A>G	c.(925-927)acA>acG	p.T309T	C1orf112_ENST00000413811.2_Silent_p.T280T|C1orf112_ENST00000359326.4_Silent_p.T309T|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	309										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCTAGTGACACTGGATCCAC	0.403000													10	156					0	0	0.000978	0	0
RPTN	126638	broad.mit.edu	37	1	152130303	152130303	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152130303C>T	ENST00000316073.3	-	2	127	c.63G>A	c.(61-63)ggG>ggA	p.G21G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	21	EF-hand 1.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGTCCCCATTCCCTTTGGCAT	0.448000													51	23					0	0	0.003610	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388243	104388243	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:104388243C>A	ENST00000360814.4	-	9	1042	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	GLT8D2_ENST00000546436.1_Missense_Mutation_p.A213S|GLT8D2_ENST00000548660.1_Missense_Mutation_p.A213S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	213						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCCTTGATGGCCTTCTTCCGG	0.478000													15	63					8.28177e-16	1.4229e-15	0.007413	1	0
MINK1	50488	broad.mit.edu	37	17	4789488	4789488	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:4789488G>A	ENST00000355280.6	+	9	964	c.768G>A	c.(766-768)aaG>aaA	p.K256K	MINK1_ENST00000347992.7_Silent_p.K256K|MINK1_ENST00000453408.3_Silent_p.K256K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	256	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCAAGTCCAAGAAGTGGTAGG	0.592000													20	37					0	0	0.002299	0	0
NARS	4677	broad.mit.edu	37	18	55273959	55273959	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:55273959A>G	ENST00000256854.5	-	10	1481	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C	NARS_ENST00000423481.2_Silent_p.C93C	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	342					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	p.C342C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAGGAAAGGACACTCAGCTT	0.473000													24	100					0	0	0.005443	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356702	140356702	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:140356702A>G	ENST00000406427.1	-	31	3910	c.3574T>C	c.(3574-3576)Tac>Cac	p.Y1192H	PNPLA7_ENST00000371457.1_Missense_Mutation_p.Y773H|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.Y1167H	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1167					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)		TACTCGCAGTAGTCACTGCTC	0.642000													13	45					0	0	0.002450	0	0
GNB1L	54584	broad.mit.edu	37	22	19799823	19799823	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:19799823C>T	ENST00000329517.6	-	5	638	c.402G>A	c.(400-402)ggG>ggA	p.G134G	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Silent_p.G134G|GNB1L_ENST00000403325.1_Silent_p.G134G	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	134					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CGCTGCCCCTCCCTGGCACGG	0.652000													9	18					0	0	0.006214	0	0
PCYT2	5833	broad.mit.edu	37	17	79864054	79864054	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79864054C>T	ENST00000538936.2	-	9	868		c.e9-1		PCYT2_ENST00000538721.2_Splice_Site|PCYT2_ENST00000331285.3_Splice_Site|PCYT2_ENST00000570391.1_Splice_Site|PCYT2_ENST00000570388.1_Splice_Site|PCYT2_ENST00000571105.1_Splice_Site	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine						phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GATTGACCTCCTGCGGCCAGA	0.627000													3	13					0	0	0.004672	0	0
INPP5F	22876	broad.mit.edu	37	10	121557075	121557075	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:121557075T>C	ENST00000361976.2	+	8	1137	c.971T>C	c.(970-972)gTt>gCt	p.V324A	INPP5F_ENST00000369083.3_Missense_Mutation_p.V324A	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	324	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTCATTTGTTCAAACACGA	0.438000													4	27					0	0	0.000602	0	0
XRCC1	7515	broad.mit.edu	37	19	44058832	44058832	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:44058832C>A	ENST00000262887.5	-	4	927	c.380G>T	c.(379-381)cGg>cTg	p.R127L	XRCC1_ENST00000543982.1_Missense_Mutation_p.R96L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	127					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AATTTTGACCCGGTCCCAGCG	0.612000								Other BER factors					45	167					1.03325e-14	1.77333e-14	0.002852	1	0
ZNF484	83744	broad.mit.edu	37	9	95609334	95609334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:95609334G>A	ENST00000395505.2	-	3	1719	c.1627C>T	c.(1627-1629)Cca>Tca	p.P543S	ZNF484_ENST00000332591.6_Missense_Mutation_p.P543S|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.P581S|ZNF484_ENST00000375495.3_Missense_Mutation_p.P579S	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAAACATATGGTTTTTCCCCT	0.383000													27	55					0	0	0.005443	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066351	41066351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:41066351G>A	ENST00000595535.1	+	27	6043	c.5957G>A	c.(5956-5958)tGg>tAg	p.W1986*	SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.W662*|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392025.1_Intron|SPTBN4_ENST00000352632.3_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	0					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCCCTGGTGGCCTACCCCA	0.622000													7	19					0	0	0.001984	0	0
DDX27	55661	broad.mit.edu	37	20	47851535	47851535	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47851535A>G	ENST00000371764.4	+	12	1439	c.1430A>G	c.(1429-1431)cAc>cGc	p.H477R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	477	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGCAGGCCCACCGCATGCAC	0.582000													11	33					0	0	0.008291	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182924	39182924	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:39182924A>G	ENST00000361883.5	-	1	530	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	162	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CGGCAGCAGGACTGTCCACAG	0.592000													19	95					0	0	0.007413	0	0
KRT71	112802	broad.mit.edu	37	12	52940249	52940249	+	Silent	SNP	C	C	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52940249C>A	ENST00000267119.5	-	7	1215	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	382	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGTTGTCTCCCCGCTGCTCAG	0.612000													10	31					2.17888e-05	3.68433e-05	0.006214	1	0
RGL4	266747	broad.mit.edu	37	22	24036084	24036084	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:24036084A>G	ENST00000290691.5	+	4	2005	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	RGL4_ENST00000401461.1_Missense_Mutation_p.T143A	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	279	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGCATCACCACCTCCTGCCT	0.622000													25	38					0	0	0.003954	0	0
DSC2	1824	broad.mit.edu	37	18	28654804	28654804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:28654804G>A	ENST00000280904.6	-	12	2176	c.1733C>T	c.(1732-1734)cCt>cTt	p.P578L	DSC2_ENST00000251081.6_Missense_Mutation_p.P578L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	578	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTTTTAGGTATGAATGG	0.423000													6	19					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179598380	179598380	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179598380C>G	ENST00000589042.1	-	53	15960	c.15736G>C	c.(15736-15738)Gct>Cct	p.A5246P	TTN_ENST00000342992.6_Missense_Mutation_p.A4002P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A4929P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4929	Ig-like 33.						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)			TGGCTTCCAGCTTCATTTTCA	0.358000													20	97					0	0	0.007413	0	0
EPPK1	83481	broad.mit.edu	37	8	144947161	144947161	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144947161G>A	ENST00000525985.1	-	2	332	c.261C>T	c.(259-261)ctC>ctT	p.L87L				P58107	EPIPL_HUMAN	epiplakin 1	87						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCCGGGCGAGGTCCACCA	0.706000													10	13					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200402	155200402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:155200402C>T	ENST00000460012.1	-	23	3680	c.3323G>A	c.(3322-3324)cGa>cAa	p.R1108Q	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1108Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R1146Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1108Q|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1146					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTTGCAGCTCGGCCCTTACC	0.458000													13	33					0	0	0.001855	0	0
DGCR14	8220	broad.mit.edu	37	22	19125789	19125789	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:19125789G>A	ENST00000252137.6	-	7	907	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	288					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACTCCTGGGGGATCAGCTCCT	0.627000													6	20					0	0	0.003080	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:121469308G>A	ENST00000257570.5	-	3	864	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_ENST00000339275.5_Silent_p.F198F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000													119	216					0	0	0.003610	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925262	67925262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:67925262G>A	ENST00000304363.4	-	11	2904	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.P851S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGAGGAAGAGGAATAAAATCG	0.393000													22	32					0	0	0.001882	0	0
COL1A2	1278	broad.mit.edu	37	7	94057679	94057679	+	Missense_Mutation	SNP	G	G	A	rs72659343		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:94057679G>A	ENST00000297268.6	+	50	4072	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1201	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCTACTGGCGAAACCTGTAT	0.433000										HNSCC(75;0.22)			48	163					0	0	0.003610	0	0
C1S	716	broad.mit.edu	37	12	7171656	7171656	+	Silent	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:7171656C>T	ENST00000406697.1	+	8	1105	c.477C>T	c.(475-477)ccC>ccT	p.P159P	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Silent_p.P159P|C1S_ENST00000360817.5_Silent_p.P159P			P09871	C1S_HUMAN	complement component 1, s subcomponent	159	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCTCCTGCCCCCCGGAATATT	0.458000													45	86					0	0	0.003214	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730789	30730789	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:30730789A>G	ENST00000217315.5	+	6	822	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	TM9SF4_ENST00000398022.2_Missense_Mutation_p.Y178C			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	178						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTTCAGATCTACCTGCACAAC	0.517000													9	56					0	0	0.006214	0	0
UNC13B	10497	broad.mit.edu	37	9	35403756	35403756	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:35403756A>G	ENST00000378495.3	+	39	4724	c.4502A>G	c.(4501-4503)aAt>aGt	p.N1501S	UNC13B_ENST00000396787.1_Missense_Mutation_p.N1532S|UNC13B_ENST00000378496.4_Missense_Mutation_p.N1520S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1501	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTGGGAAATGAGGAGGGG	0.572000													18	41					0	0	0.006122	0	0
TATDN3	128387	broad.mit.edu	37	1	212977941	212977941	+	Silent	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:212977941T>C	ENST00000366974.4	+	7	529	c.435T>C	c.(433-435)aaT>aaC	p.N145N	TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000366973.4_Silent_p.N145N|TATDN3_ENST00000526997.1_Silent_p.N145N|TATDN3_ENST00000526641.1_Silent_p.N124N|TATDN3_ENST00000531963.1_Silent_p.N145N|TATDN3_ENST00000532324.1_Silent_p.N145N	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	145						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TAAACAGAAATGTGCACTCAC	0.338000													16	43					0	0	0.006122	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38808377	38808377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:38808377G>A	ENST00000420274.1	+	6	589	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.G119S|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	119					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGTTCCCAAAGGTGGGGGCCT	0.547000													11	24					0	0	0.000978	0	0
DICER1	23405	broad.mit.edu	37	14	95583017	95583017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:95583017G>A	ENST00000526495.1	-	12	1816	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	DICER1_ENST00000393063.1_Nonsense_Mutation_p.R509*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.R509*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.R509*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.R509*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	509	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCATGTGCTCGAAATTTCCTA	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				109	231					0	0	0.003610	0	0
MYO1F	4542	broad.mit.edu	37	19	8595445	8595445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:8595445C>T	ENST00000338257.8	-	20	2323	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	686						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCACCTCCTCCAGGAGGAAA	0.647000													26	69					0	0	0.005443	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091267	11091267	+	Silent	SNP	T	T	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:11091267T>G	ENST00000537503.1	-	1	595	c.540A>C	c.(538-540)gtA>gtC	p.V180V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	180					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGCTGGTTAATACAATAAGAC	0.378000													21	38					0	0	0.002299	0	0
COL4A1	1282	broad.mit.edu	37	13	110823081	110823081	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:110823081T>C	ENST00000375820.4	-	42	3678		c.e42-2			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGAACCTGAACAAGAAA	0.557000													12	45					0	0	0.002450	0	0
PITPNA	5306	broad.mit.edu	37	17	1438752	1438752	+	Silent	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1438752A>G	ENST00000313486.7	-	8	772	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	PITPNA_ENST00000539476.1_Silent_p.L173L	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	173					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTGGGGCCCAAGGGTCCTCGG	0.567000													4	29					0	0	0.000602	0	0
SSX9	280660	broad.mit.edu	37	X	48163708	48163708	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:48163708G>A	ENST00000376909.1	-	3	200	c.138C>T	c.(136-138)atC>atT	p.I46I	SSX9_ENST00000407081.2_Silent_p.I46I																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ACACATAGATGATTTTCTCCG	0.378000													26	10					0	0	0.005443	0	0
ABHD10	55347	broad.mit.edu	37	3	111710464	111710464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:111710464C>T	ENST00000273359.3	+	5	844	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	ABHD10_ENST00000534857.1_Missense_Mutation_p.L116F	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	273						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GGATGTCATCCTCCGAAAACA	0.418000													21	69					0	0	0.001882	0	0
FBN3	84467	broad.mit.edu	37	19	8190870	8190870	+	Silent	SNP	G	G	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:8190870G>A	ENST00000600128.1	-	22	3051	c.2637C>T	c.(2635-2637)gtC>gtT	p.V879V	FBN3_ENST00000270509.2_Silent_p.V879V|FBN3_ENST00000601739.1_Silent_p.V879V			Q75N90	FBN3_HUMAN	fibrillin 3	879	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGGGACAGACTCCCGGGA	0.642000													18	33					0	0	0.006122	0	0
MYO18B	84700	broad.mit.edu	37	22	26231332	26231332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:26231332C>T	ENST00000335473.7	+	17	3380	c.3130C>T	c.(3130-3132)Cat>Tat	p.H1044Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.H1044Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.H1045Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1044	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.H1045N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAAGTCCATGTAGAGGG	0.582000													22	55					0	0	0.002299	0	0
DENND2A	27147	broad.mit.edu	37	7	140219486	140219486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140219486C>T	ENST00000275884.6	-	18	3361	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	DENND2A_ENST00000537639.1_Missense_Mutation_p.E982K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E982K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	982								p.E982Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGGAGTGTTTCCAGATACTCT	0.522000													35	252					0	0	0.003214	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645429	19645429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:19645429C>T	ENST00000457500.2	-	4	906	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G120R|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G193R|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G193R|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G193R	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	193					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATGATCTTCCCCACCCCCGTG	0.587000													11	24					0	0	0.001368	0	0
GGA3	23163	broad.mit.edu	37	17	73238472	73238472	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73238472A>G	ENST00000245541.6	-	8	908	c.692T>C	c.(691-693)aTg>aCg	p.M231T	GGA3_ENST00000582717.1_Missense_Mutation_p.M159T|GGA3_ENST00000578348.1_Missense_Mutation_p.M109T|GGA3_ENST00000582486.1_Missense_Mutation_p.M159T|GGA3_ENST00000351904.7_Missense_Mutation_p.M198T|GGA3_ENST00000538886.1_Missense_Mutation_p.M109T|GGA3_ENST00000537686.1_3'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	231	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ATGAAGCAGCATCTCACTGAG	0.592000													29	158					0	0	0.001786	0	0
MARK1	4139	broad.mit.edu	37	1	220825467	220825467	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:220825467G>C	ENST00000402574.1	+	15	2308	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	MARK1_ENST00000366917.4_Missense_Mutation_p.D571H|MARK1_ENST00000366918.4_Missense_Mutation_p.D549H	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	571					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AACCATTAAAGACGGCTCTGA	0.453000													12	94					0	0	0.002450	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	8	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157405953	157405954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:157405953_157405954insG	ENST00000346085.5	+	6	2196_2197	c.2195_2196insG	c.(2194-2196)cggfs	p.R732fs	ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.R661fs|ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.R719fs|ARID1B_ENST00000350026.5_Frame_Shift_Ins_p.R719fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCAT	0.599													16	28	---	---	---	---					
RP11-155G14.5	0	broad.mit.edu	37	7	128109155	128109155	+	RNA	DEL	A	A	-			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:128109155delA	ENST00000493710.1	+	0	566																											TCCTCATCAGATACCAGTGAA	0.358													62	289	---	---	---	---					
TRBV6-5	28602	broad.mit.edu	37	7	142180822	142180824	+	RNA	DEL	AGA	AGA	-	rs146925843	by1000genomes	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142180822_142180824delAGA	ENST00000390368.2	-	0	115																											GCAGAGAAGGAGAACAAAGCTGA	0.562													17	140	---	---	---	---