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
LRRN3	54674	broad.mit.edu	37	7	110764027	110764027	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:110764027C>T	uc003vft.4	+	3	2245	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.P400L|LRRN3_uc003vfs.4_Missense_Mutation_p.P400L|LRRN3_uc022akc.1_Missense_Mutation_p.P400L	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	400	LRRCT.					integral to membrane		p.P399fs*16(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTGGACCCACCTGAATTCCAA	0.443000													7	62					0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42731450	42731450	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr15:42731450C>T	uc001zpw.3	-	7	4583	c.4256G>A	c.(4255-4257)aGt>aAt	p.S1419N	ZFP106_uc001zpu.3_Missense_Mutation_p.S517N|ZFP106_uc001zpv.3_Missense_Mutation_p.S604N|ZFP106_uc001zpx.3_Missense_Mutation_p.S647N	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1419						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGACGAGTCACTATCTGGCTC	0.463000													51	100					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41475253	41475253	+	Silent	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:41475253C>G	uc001cgk.4	+	16	2191	c.1683C>G	c.(1681-1683)ctC>ctG	p.L561L	CTPS1_uc010ojo.2_Silent_p.L330L|CTPS1_uc001cgl.4_Silent_p.L561L|CTPS1_uc010ojq.2_Silent_p.L405L	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	561					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GCTGCAGGCTCTCACCCAGGT	0.537000													44	57					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953976	50953976	+	Silent	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:50953976C>T	uc009xog.3	-	9	1459	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	OGDHL_uc001jie.3_Silent_p.P448P|OGDHL_uc010qgt.2_Silent_p.P391P|OGDHL_uc010qgu.2_Silent_p.P239P|OGDHL_uc009xoh.2_Silent_p.P239P	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	448					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACGTCGGTCGGGTATGGTG	0.552000													18	38					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36402390	36402390	+	Silent	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr13:36402390G>T	uc001uvf.3	-	8	1567	c.1284C>A	c.(1282-1284)ggC>ggA	p.G428G	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.G121G|DCLK1_uc010teh.2_Silent_p.G121G|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	428	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACATACTTTGCCTCGACATT	0.338000													8	12					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330399	51330399	+	Silent	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:51330399C>G	uc002ptl.3	-	2	247	c.216G>C	c.(214-216)ctG>ctC	p.L72L	KLK15_uc002ptm.3_Silent_p.L72L|KLK15_uc002ptn.3_Silent_p.L72L|KLK15_uc002pto.3_Silent_p.L71L|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.L71L|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	72	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGTGCTCTCCCAGGCGCACTC	0.622000													23	24					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850347	14850347	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:14850347T>C	uc010dlo.2	+	34	3353	c.3173T>C	c.(3172-3174)aTa>aCa	p.I1058T	ANKRD30B_uc021uhy.1_Missense_Mutation_p.I1058T|ANKRD30B_uc010xal.1_Missense_Mutation_p.I200T	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1143										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATACAAGATATAGAATTGAAA	0.279000													3	8					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328795	42328795	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:42328795C>T	uc002igf.4	-	17	2622	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I	SLC4A1_uc021tyc.1_Missense_Mutation_p.V459I	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	825	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCCGCTTGACGTAGGGCACA	0.602000													31	56					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196645165	196645165	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:196645165G>A	uc001gtj.4	+	3	637	c.397G>A	c.(397-399)Gga>Aga	p.G133R	CFH_uc001gti.4_Missense_Mutation_p.G133R|CFH_uc009wyw.3_Missense_Mutation_p.G133R|CFH_uc009wyx.3_Missense_Mutation_p.G133R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133	Sushi 2.				complement activation, alternative pathway	extracellular space		p.G133R(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGACACAGATGGATGGACCAA	0.289000													27	34					0	0	1	0	0
MTCP1	4515	broad.mit.edu	37	X	154294021	154294021	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:154294021G>C	uc004fmz.2	-	2	775	c.149C>G	c.(148-150)cCc>cGc	p.P50R	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	50					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCACCTAAGGGAACCTGAAT	0.478000			T	TRA@	T cell prolymphocytic leukemia								33	4					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128230300	128230300	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:128230300G>A	uc004bpv.3	-	9	1629	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	MAPKAP1_uc011lzt.2_Silent_p.I235I|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Silent_p.I240I|MAPKAP1_uc011lzv.2_Silent_p.I140I|MAPKAP1_uc004bpw.3_Silent_p.I240I|MAPKAP1_uc004bpx.3_Silent_p.I240I|MAPKAP1_uc004bpy.3_Silent_p.I396I|MAPKAP1_uc004bpz.3_Silent_p.I385I|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc004bpu.3_Non-coding_Transcript	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	432					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GGTCGGAATCGATTGAGATGG	0.453000													8	107					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778000	44778000	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:44778000G>C	uc021uvi.1	+	4	1293	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.R211T|ZNF233_uc002oyz.2_Missense_Mutation_p.R396T	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCTGGAGAGAGAGCCTGTAAA	0.448000													41	23					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98229277	98229277	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:98229277C>G	uc003knf.3	-	12	1982	c.1834G>C	c.(1834-1836)Ggt>Cgt	p.G612R		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	612	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCAACACCTATAAATGCC	0.333000													45	5					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76566365	76566365	+	Silent	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76566365G>T	uc010dhp.2	-	6	1133	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	DNAH17_uc002jvv.2_Silent_p.V38V	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCAGGATGACGATGATCC	0.597000													9	10					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020676	167020676	+	Silent	SNP	C	C	T	rs115401178	by1000genomes	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr4:167020676C>T	uc003irh.2	+	19	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_uc011cjn.2_Silent_p.S991S|TLL1_uc011cjo.2_Silent_p.S792S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	968	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423000													64	64					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570800	71570800	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:71570800C>T	uc021tkt.1	+	0	220	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CHST4_uc002fan.3_Missense_Mutation_p.P74S|CHST4_uc002fao.3_Missense_Mutation_p.P74S	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	74					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTGATGGAGCCCGCCTGGCA	0.587000													5	87					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													3	43					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111845678	111845678	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:111845678A>T	uc001pml.3	+	4	924	c.627A>T	c.(625-627)caA>caT	p.Q209H	DIXDC1_uc001pmj.3_Missense_Mutation_p.Q202H|DIXDC1_uc001pmk.3_Missense_Mutation_p.Q209H|DIXDC1_uc001pmm.3_5'Flank	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	209	Actin-binding.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGGGCAACAAAGGTCCCCGT	0.507000													5	18					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67844063	67844063	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:67844063C>T	uc002lkp.2	-	10	1392	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.V442M	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	442							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCTCCCAACACCAGGAGTAGT	0.428000													9	102					0	0	1	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328228	21328228	+	RNA	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:21328228C>T	uc010bwr.1	+	2		c.620C>T								Homo sapiens CRYM antisense RNA 1 (non-protein coding) (CRYM-AS1), non-coding RNA.																		CCTCACATTTCTGTTTAGTGC	0.398000													5	175					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1219473	1219473	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:1219473T>G	uc001qjb.2	+	4	1518	c.1277T>G	c.(1276-1278)aTg>aGg	p.M426R	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.M426R|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.M426R|ERC1_uc010sdv.1_Missense_Mutation_p.M202R|ERC1_uc009zdp.3_Missense_Mutation_p.M63R	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	426					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGAAGCAAATGGAAGTGTAT	0.373000													25	27					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	38					0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:4236975C>T	uc002lzu.3	+	4	588	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	194	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607000													3	57					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141119	21141119	+	Missense_Mutation	SNP	G	G	T	rs141528866		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:21141119G>T	uc003zol.1	-	0	1026	c.451C>A	c.(451-453)Cgt>Agt	p.R151S		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	151					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTAGACACGGATTCCCTGG	0.483000													43	36					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:47696426A>T	uc002ipg.3	-	4	694	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_uc010dbk.3_Missense_Mutation_p.F133I|SPOP_uc002ipb.3_Missense_Mutation_p.F133I|SPOP_uc002ipc.3_Missense_Mutation_p.F133I|SPOP_uc002ipd.3_Missense_Mutation_p.F133I|SPOP_uc002ipe.3_Missense_Mutation_p.F133I|SPOP_uc002ipf.3_Missense_Mutation_p.F133I	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(8)|p.F133L(7)|p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			57	68					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54882330	54882330	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:54882330C>G	uc002rxu.3	+	27	6195	c.5946C>G	c.(5944-5946)caC>caG	p.H1982Q	SPTBN1_uc002rxx.3_Missense_Mutation_p.H1969Q|SPTBN1_uc002rxy.3_Missense_Mutation_p.H127Q|SPTBN1_uc010you.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1982	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGAGAAAACACTATGCATCTG	0.403000													13	20					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975394	21975394	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:21975394A>G	uc010iuc.2	-	2	790	c.332T>C	c.(331-333)aTt>aCt	p.I111T	CDH12_uc011cno.1_Missense_Mutation_p.I111T|CDH12_uc003jgk.2_Missense_Mutation_p.I111T	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	111	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTGCATGAATGTCCCCTGT	0.493000										HNSCC(59;0.17)			8	80					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789637	5789637	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:5789637G>A	uc002mdc.3	-	2	578	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	161					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGCACGCAGCGGGGGCCCAGG	0.682000													7	7					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44163650	44163650	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:44163650C>T	uc001cjx.3	+	18	2973	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	936	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483000													35	27					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96140003	96140003	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:96140003G>A	uc004efv.4	+	0	1097	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	232					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CGACCTTAGCGTCAAGGCCAT	0.517000								Other identified genes with known or suspected DNA repair function					53	6					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181052	140181052	+	Silent	SNP	A	A	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:140181052A>C	uc003lhf.2	+	0	270	c.270A>C	c.(268-270)atA>atC	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I90I	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATAGACCGCGAGG	0.592000													6	290					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937288	33937288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:33937288G>A	uc003jic.2	+	0	798	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	148						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GACTTCAAATGGCCCTTCGGC	0.552000													63	63					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49446884	49446884	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:49446884G>A	uc002xvq.3	+	2	385	c.321G>A	c.(319-321)atG>atA	p.M107I	BCAS4_uc002xvp.1_Missense_Mutation_p.M107I|BCAS4_uc002xvr.3_Missense_Mutation_p.M107I|BCAS4_uc002xvs.3_Missense_Mutation_p.M107I	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	107						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TGACAGAAATGCGTGGCATCT	0.488000													35	37					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632648	24632648	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr14:24632648G>A	uc001wmq.3	+	3	1246	c.426G>A	c.(424-426)agG>agA	p.R142R	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Silent_p.R40R	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	142					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.R142S(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532000													86	114					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62572025	62572025	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:62572025G>A	uc010gkn.3	-	11	1299	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	UCKL1_uc011abm.2_Silent_p.P393P|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	408					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCGCAGCGCGGGCTCCATGG	0.697000													12	16					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137219176	137219176	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:137219176C>T	uc011cye.2	+	6	937	c.920C>T	c.(919-921)tCa>tTa	p.S307L	MYOT_uc003lbv.3_Missense_Mutation_p.S307L|MYOT_uc011cyg.2_Missense_Mutation_p.S123L|MYOT_uc011cyh.2_Missense_Mutation_p.S192L	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	307	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTCTTCATTCACTCATCTTT	0.453000													31	55					0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28970265	28970265	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:28970265T>A	uc001iuj.1	+	1	558	c.155T>A	c.(154-156)tTc>tAc	p.F52Y		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	52					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGCGCCTGCTTCTCTAGACTT	0.498000													37	45					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072175	34072175	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:34072175G>A	uc002hjv.2	-	5	2369	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	781					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCGGGGCCGAATCCTGGGT	0.612000													4	139					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76472714	76472714	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76472714G>A	uc010dhp.2	-	51	8219	c.8094C>T	c.(8092-8094)gaC>gaT	p.D2698D		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.D2693D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCTTTTTCGTCAACCATTT	0.488000													11	12					0	0	1	0	0
ARL1	400	broad.mit.edu	37	12	101794883	101794883	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:101794883T>C	uc001tib.3	-	3	442	c.293A>G	c.(292-294)gAc>gGc	p.D98G	ARL1_uc010svn.2_Missense_Mutation_p.D52G|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	98					small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity|enzyme activator activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GCCAATTCGGTCTCGGTCACA	0.373000													24	35					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15432834	15432834	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:15432834G>A	uc002rcc.1	-	40	4880	c.4854C>T	c.(4852-4854)caC>caT	p.H1618H	NBAS_uc010exl.1_Silent_p.H690H|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1618								p.E1617*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCAGGCTTCGTGCTCATGTC	0.463000													26	37					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74973609	74973609	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:74973609G>A	uc003keh.4	-	10	1771	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	POC5_uc010izu.3_Intron|POC5_uc003keg.4_Missense_Mutation_p.P500L	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	525					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTGTGACTGGATGATGTTT	0.373000													4	38					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117210	117210	+	RNA	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrGL000205.1:117210G>A	uc002kgk.4	+	0		c.588G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCTAAGTCAAGAGACAGTGAT	0.507000													5	98					0	0	1	0	0
DNAJC24	120526	broad.mit.edu	37	11	31436377	31436377	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:31436377G>T	uc001msx.3	+	2	247	c.131G>T	c.(130-132)aGt>aTt	p.S44I	DNAJC24_uc001msw.1_Missense_Mutation_p.S43I|DNAJC24_uc009yjm.3_Missense_Mutation_p.S43I	NM_181706	NP_859057	Q6P3W2	DJC24_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 24 (DNAJC24), mRNA.	43	J.				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GATAAACAAAGTACAGATGTA	0.398000													9	68					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2293366	2293366	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:2293366G>A	uc002cpr.3	-	4	551	c.516C>T	c.(514-516)taC>taT	p.Y172Y	ECI1_uc002cps.3_Intron	NM_001919	NP_001910	P42126	ECI1_HUMAN	Homo sapiens enoyl-CoA delta isomerase 1 (ECI1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						GTCCTATGCAGTACCTGGGGT	0.647000													76	68					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679992	63679992	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:63679992C>T	uc001nyc.3	-	10	1430	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	348	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y347fs*39(2)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTCTTTGCCATACCTACGG	0.547000													54	60					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49955714	49955714	+	Silent	SNP	T	T	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955714T>A	uc004dow.1	-	5	2578	c.2454A>T	c.(2452-2454)gtA>gtT	p.V818V	AKAP4_uc004dou.1_Silent_p.V809V|AKAP4_uc004dov.1_Silent_p.V435V|AKAP4_uc010njp.1_Silent_p.V640V	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	818					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAAGACCTCCTACACTGTACC	0.512000													50	10					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73475451	73475451	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:73475451G>A	uc003tzw.3	+	25	1877	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	ELN_uc003tzn.3_Missense_Mutation_p.A590T|ELN_uc003tzy.3_Missense_Mutation_p.A566T|ELN_uc003tzz.3_Missense_Mutation_p.A509T|ELN_uc003tzo.3_Missense_Mutation_p.A542T|ELN_uc003tzp.3_Missense_Mutation_p.A501T|ELN_uc003tzq.3_Missense_Mutation_p.A454T|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.A571T|ELN_uc003tzt.3_Missense_Mutation_p.A595T|ELN_uc003tzu.3_Missense_Mutation_p.A576T|ELN_uc003tzv.3_Missense_Mutation_p.A561T|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.A580T|ELN_uc011kff.2_Missense_Mutation_p.A590T	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	652	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCTGGCTGCCGCTAAAGCAGC	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						47	44					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63954301	63954301	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:63954301C>A	uc001srp.1	-	21	2449	c.2268G>T	c.(2266-2268)aaG>aaT	p.K756N	DPY19L2_uc010sso.1_Missense_Mutation_p.K203N	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	756					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCAGTTAACCTTTAATACTC	0.413000													6	49					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811992	116811992	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:116811992G>T	uc004bid.3	+	14	2509	c.2410G>T	c.(2410-2412)Gtg>Ttg	p.V804L	ZNF618_uc004bic.3_Missense_Mutation_p.V711L|ZNF618_uc011lxi.2_Missense_Mutation_p.V771L|ZNF618_uc011lxj.2_Missense_Mutation_p.V772L|ZNF618_uc010mvb.3_Missense_Mutation_p.V394L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCCCACAAGGTGGCCATGAT	0.612000													7	98					0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219269079	219269081	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:219269079_219269081delCTT	uc002vhy.3	+	6	1053_1055	c.717_719delCTT	c.(715-720)cccttc>ccc	p.F241del	CTDSP1_uc021vwv.1_In_Frame_Del_p.F240del|CTDSP1_uc002vhx.3_In_Frame_Del_p.F240del|CTDSP1_uc002vhz.3_In_Frame_Del_p.F100del	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 (CTDSP1), transcript variant 1, mRNA.	241	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCCTCCCCTTCTTCGAGCAA	0.626													66	103	---	---	---	---					
CDC20B	166979	broad.mit.edu	37	5	54442517	54442518	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:54442517_54442518insTC	uc003jpo.2	-	2	470_471	c.293_294insGA	c.(292-294)tacfs	p.Y98fs	CDC20B_uc003jpn.2_Frame_Shift_Ins_p.Y98fs|CDC20B_uc010ivu.2_Frame_Shift_Ins_p.Y98fs|CDC20B_uc010ivv.2_Frame_Shift_Ins_p.Y98fs|CDC20B_uc003jpp.3_Non-coding_Transcript	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	98										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)			CTTCTGGGAGGTAGGTGGTTGA	0.550											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	45	---	---	---	---					
TULP1	7287	broad.mit.edu	37	6	35480000	35480000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr6:35480000delG	uc003okv.4	-	2	159	c.147delC	c.(145-147)cccfs	p.P49fs	TULP1_uc003okw.4_Frame_Shift_Del_p.P49fs|TULP1_uc021yyx.1_Frame_Shift_Del_p.P49fs|TULP1_uc021yyy.1_Frame_Shift_Del_p.P49fs	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	49					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGGGATTCGGGGGCCTCCG	0.721													2	4	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	4	848_850	c.697_699delGAA	c.(697-699)gaadel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	238	Poly-Glu.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													7	159	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40837976	40837976	+	Splice_Site	DEL	C	C	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:40837976delC	uc002iay.3	+	6	932	c.716_splice	c.e6-1	p.G239_splice	CNTNAP1_uc010wgs.2_Splice_Site	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	239	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACCCTCAGGCAGCAGCCCTA	0.607													49	68	---	---	---	---					
CYP2A6	1548	broad.mit.edu	37	19	41350562	41350562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:41350562delC	uc002opl.4	-	7	1298	c.1277delG	c.(1276-1278)agtfs	p.S426fs		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	426					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAAAGCATCACTCTTCTTAAA	0.567													86	68	---	---	---	---					
C20orf96	140680	broad.mit.edu	37	20	257752	257752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:257752delT	uc002wde.2	-	7	926	c.758delA	c.(757-759)aagfs	p.K253fs	C20orf96_uc021vzl.1_Frame_Shift_Del_p.K252fs|C20orf96_uc010zpi.2_Frame_Shift_Del_p.K200fs|C20orf96_uc010zpj.1_Frame_Shift_Del_p.K218fs|C20orf96_uc010zpk.2_Frame_Shift_Del_p.K191fs	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	253										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCAGGACCTTTCTGCGCAT	0.552													125	178	---	---	---	---					
AKAP4	8852	broad.mit.edu	37	X	49955731	49955733	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955731_49955733delCTG	uc004dow.1	-	5	2559_2561	c.2435_2437delCAG	c.(2434-2439)gcagag>gag	p.A812del	AKAP4_uc004dou.1_In_Frame_Del_p.A803del|AKAP4_uc004dov.1_In_Frame_Del_p.A429del|AKAP4_uc010njp.1_In_Frame_Del_p.A634del	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	812					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TACCCCTTCTCTGCTGCTTTAGC	0.498													58	18	---	---	---	---					
