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
FLJ36000	284124	broad.mit.edu	37	17	21904069	21904069	+	RNA	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:21904069C>G	uc002gza.2	+	0		c.8C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccgaggctccggcctgacct	0.662000													3	15					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050623	32050623	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:32050623C>T	uc001bta.3	+	6	969	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TINAGL1_uc010ogj.2_Silent_p.F250F|TINAGL1_uc010ogk.1_Silent_p.F281F|TINAGL1_uc021oko.1_Silent_p.F176F	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	281					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGGTGGTTCCTGCGTCGCC	0.637000													20	73					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48428731	48428731	+	Silent	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428731T>A	uc003toq.2	+	36	11592	c.11568T>A	c.(11566-11568)gcT>gcA	p.A3856A	ABCA13_uc010kys.1_Silent_p.A930A|ABCA13_uc003tos.1_Silent_p.A682A|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3856	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.L3855M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCACAAGGCTGTGGTCCAAG	0.552000													41	54					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36952275	36952275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:36952275G>T	uc002xib.2	+	7	834	c.772G>T	c.(772-774)Gag>Tag	p.E258*		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	258					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCCCAGGGGGAGTTTTACAG	0.498000													5	51					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565530	156565530	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:156565530C>G	uc001fpm.3	-	7	651	c.603G>C	c.(601-603)caG>caC	p.Q201H	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Missense_Mutation_p.Q196H	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	196						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTCTGACTGCAGTTGAG	0.537000													29	47					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000													5	85					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187069	140187069	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr5:140187069C>T	uc003lhi.2	+	0	398	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.S99S|PCDHAC2_uc011daa.2_Silent_p.S99S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	114	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)			GCCGGCGGAGCGCGGAGTGCA	0.592000													8	141					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660767	134660767	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:134660767G>T	uc021qbc.1	-	41	6112	c.6011C>A	c.(6010-6012)gCc>gAc	p.A2004D		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	165										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGACTTTGTGGCACCCTCTTC	0.657000													24	121					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836863	73836863	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:73836863C>T	uc002jpp.3	-	7	1043	c.663G>A	c.(661-663)acG>acA	p.T221T	UNC13D_uc010wsk.1_Silent_p.T221T|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.T18T	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	221	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATGCAGATCCGTGAGCTCCC	0.592000									Familial Hemophagocytic Lymphohistiocytosis				45	138					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	42					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488378	103488378	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:103488378A>G	uc001dum.3	-	7	1519	c.1201T>C	c.(1201-1203)Tat>Cat	p.Y401H	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.Y389H|COL11A1_uc001dun.3_Missense_Mutation_p.Y350H|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	389	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTATCTTCATATTCTTTATAT	0.363000													5	65					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52148178	52148178	+	Silent	SNP	T	T	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:52148178T>C	uc003pan.1	-	1	215	c.105A>G	c.(103-105)aaA>aaG	p.K35K	MCM3_uc011dwu.1_Intron	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	35					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTCCCGAACTTTGCTCTGAT	0.448000													5	79					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937680	43937680	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:43937680G>A	uc010yny.2	+	13	2350	c.2267G>A	c.(2266-2268)aGt>aAt	p.S756N	PLEKHH2_uc002rte.3_Missense_Mutation_p.S756N|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S755N	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	756	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATCCTGTAGTATTTTAAGA	0.299000													5	57					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935519	30935519	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:30935519C>T	uc002nsu.1	+	1	1188	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	ZNF536_uc010edd.1_Silent_p.C350C	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGGTGTGCGGTCAGGTGT	0.657000													10	210					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122441613	122441613	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:122441613C>T	uc009zxk.3	+	21	3552	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1131							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGAAATATTCGCGACTGAAA	0.408000													19	31					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25666234	25666234	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:25666234T>G	uc002wva.3	-	2	741	c.219A>C	c.(217-219)gaA>gaC	p.E73D	ZNF337_uc010ztg.2_Intron|ZNF337_uc002wvc.3_Missense_Mutation_p.E73D	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572000													86	142					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48428693	48428693	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428693C>T	uc003toq.2	+	36	11554	c.11530C>T	c.(11530-11532)Ctg>Ttg	p.L3844L	ABCA13_uc010kys.1_Silent_p.L918L|ABCA13_uc003tos.1_Silent_p.L670L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3844	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.T3843I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAGTCACCCTGGTGTCTGT	0.517000													42	58					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142499733	142499733	+	Silent	SNP	A	A	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:142499733A>C	uc003evc.3	+	5	958	c.822A>C	c.(820-822)gcA>gcC	p.A274A	TRPC1_uc003evb.3_Silent_p.A240A	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	274					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTTACTTGCACAAGCCCGGA	0.378000													4	55					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471396	121471396	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:121471396C>T	uc001tzj.1	-	1	355	c.349G>A	c.(349-351)Gac>Aac	p.D117N	OASL_uc001tzk.1_Missense_Mutation_p.D117N	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	117					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)					TCCAGCAGGTCCTGGCTTTGC	0.582000													7	124					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													7	56					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066623	62066623	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:62066623G>T	uc002sbm.4	-	2	1618	c.1516C>A	c.(1516-1518)Cct>Act	p.P506T	FAM161A_uc002sbn.4_Missense_Mutation_p.P316T|FAM161A_uc010ypo.2_Missense_Mutation_p.P506T|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.P397T	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	506					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAGGCACAGGGTTTACACCT	0.473000													10	71					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917402	58917402	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:58917402A>G	uc010trr.2	+	9	1470	c.1226A>G	c.(1225-1227)gAa>gGa	p.E409G	KIAA0586_uc001xdu.4_Missense_Mutation_p.E341G|KIAA0586_uc010trs.2_Missense_Mutation_p.E271G|KIAA0586_uc001xdt.4_Missense_Mutation_p.E312G|KIAA0586_uc001xdv.4_Missense_Mutation_p.E356G|KIAA0586_uc010trt.2_Missense_Mutation_p.E216G|KIAA0586_uc010tru.1_Missense_Mutation_p.E216G	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	356										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGATGATGAACTATCAAAG	0.378000													4	17					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756209	3756209	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:3756209G>A	uc001aky.2	-	6	1057	c.698C>T	c.(697-699)gCc>gTc	p.A233V	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.A233V	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	233						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TAGTTTCTTGGCATAATCATA	0.353000													34	64					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092295	151092295	+	Silent	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:151092295A>G	uc022cgv.1	+	0	159	c.159A>G	c.(157-159)gaA>gaG	p.E53E	MAGEA4_uc004fez.3_Silent_p.E53E|MAGEA4_uc004ffa.3_Silent_p.E53E|MAGEA4_uc004ffb.3_Silent_p.E53E|MAGEA4_uc022cgu.1_Silent_p.E81E|MAGEA4_uc004ffc.3_Silent_p.E53E|MAGEA4_uc004ffd.3_Silent_p.E53E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	53				E -> K (in Ref. 3; BAA06841).			protein binding	p.E52D(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGAGGAAGTGCCTGCTG	0.622000													34	44					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682160	50682160	+	Silent	SNP	C	C	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr22:50682160C>A	uc003bkb.1	-	0	1241	c.729G>T	c.(727-729)ggG>ggT	p.G243G	TUBGCP6_uc010har.1_Silent_p.G243G|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Silent_p.G243G	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	243					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAATAGCCAGCCCAGAGAGGT	0.527000													8	52					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408221	10408221	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:10408221T>A	uc002gmo.3	-	21	2691	c.2597A>T	c.(2596-2598)gAg>gTg	p.E866V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	866						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTAGCCAGCTCTTCTTTGGT	0.423000													5	111					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95899954	95899954	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr13:95899954T>G	uc001vmd.4	-	1	247	c.128A>C	c.(127-129)gAt>gCt	p.D43A	ABCC4_uc010afk.3_Missense_Mutation_p.D43A|ABCC4_uc001vme.2_Missense_Mutation_p.D43A|ABCC4_uc010tih.1_Missense_Mutation_p.D43A|ABCC4_uc001vmf.2_5'UTR|ABCC4_uc010afl.1_5'UTR|ABCC4_uc010afm.1_Missense_Mutation_p.D56A	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	43					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGAATACATATCATCTTCCTC	0.458000													21	47					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112837941	112837941	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:112837941G>A	uc001kzo.3	+	0	1152	c.187G>A	c.(187-189)Gtg>Atg	p.V63M		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	48					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTGCTCACCGTGTTCGGCAA	0.697000													3	21					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592010	101592010	+	Silent	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:101592010C>G	uc002bwr.3	+	23	3853	c.3534C>G	c.(3532-3534)ccC>ccG	p.P1178P	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1178					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACGGACCCCAGTGAGAAAT	0.617000													4	60					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320476	90320476	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:90320476G>A	uc002bon.3	+	0	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	296					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGGACGGCGGCCCCAGCAA	0.627000													4	25					0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9447432	9447432	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:9447432C>G	uc010sgq.1	+	4	513	c.422C>G	c.(421-423)aCa>aGa	p.T141R	LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632000													3	22					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155298459	155298459	+	Silent	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr4:155298459G>T	uc003inw.2	-	2	372	c.372C>A	c.(370-372)atC>atA	p.I124I	DCHS2_uc003inx.2_Silent_p.I730I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCCCTGTCGATATCTTGAG	0.403000													4	88					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60919520	60919520	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:60919520C>T	uc002agv.3	-	0	210	c.54G>A	c.(52-54)ccG>ccA	p.P18P	RORA_uc002agw.3_Silent_p.P18P|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	18	Modulating.		P -> S (in a colorectal cancer sample; somatic mutation).		positive regulation of transcription from RNA polymerase II promoter|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|zinc ion binding	p.P18S(1)|p.P18L(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATTGACCACGGCACTCTTG	0.552000													41	68					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305364	9305364	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:9305364T>G	uc001apt.3	+	1	644	c.371T>G	c.(370-372)aTc>aGc	p.I124S		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	124	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AACAAGGACATCGAGGCACAG	0.587000													4	112					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46119742	46119742	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:46119742C>A	uc010xxm.2	-	17	2162	c.2089G>T	c.(2089-2091)Gtc>Ttc	p.V697F	EML2_uc002pcn.3_Missense_Mutation_p.V496F|EML2_uc002pcp.3_Missense_Mutation_p.V380F|EML2_uc002pco.3_Intron|EML2_uc010xxl.2_Missense_Mutation_p.V643F|EML2_uc010xxn.1_Non-coding_Transcript	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	496					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)		AGGCGGCTGACCTTGCGGCCG	0.672000													29	49					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811140	123811140	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:123811140G>A	uc001pzk.1	+	0	817	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCCGTCTCTGTGCTATACAC	0.483000													53	85					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84199168	84199168	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:84199168T>C	uc004alz.3	-	19	2729	c.2288A>G	c.(2287-2289)tAc>tGc	p.Y763C	TLE1_uc004aly.3_Missense_Mutation_p.Y753C|TLE1_uc011lsr.2_Missense_Mutation_p.Y738C	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	753					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		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						AGTGACTATGTACTTATCATC	0.418000													13	54					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56335369	56335369	+	Splice_Site	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:56335369G>A	uc001sij.3	+	15	1514	c.1250_splice	c.e15+1	p.G417_splice	DGKA_uc001sih.1_Splice_Site_p.G305_splice|DGKA_uc001sii.1_Splice_Site_p.G275_splice|DGKA_uc009zod.1_Splice_Site_p.G336_splice|DGKA_uc001sik.3_Splice_Site_p.G417_splice|DGKA_uc001sil.3_Splice_Site_p.G417_splice|DGKA_uc001sim.3_Splice_Site_p.G417_splice|DGKA_uc001sin.3_Splice_Site_p.G417_splice|DGKA_uc009zof.3_Splice_Site_p.G63_splice|DGKA_uc001sio.3_Splice_Site_p.G159_splice	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	417	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATAGGGTGAGCACAGG	0.473000													33	61					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667826	667826	+	Splice_Site	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:667826G>T	uc001qii.1	+	18	2761	c.2761_splice	c.e18+1	p.G921_splice	B4GALNT3_uc001qik.1_Splice_Site_p.G470_splice	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	921						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGTGGCCTGAGGGTGAGCCCT	0.567000													4	42					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240925	134240925	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:134240925C>T	uc001qhp.3	+	12	1427	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	413					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)		AAAAGCCCATCAACATGGAGA	0.572000													9	196					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061192	38061192	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:38061192A>G	uc001wuf.3	-	1	1109	c.797T>C	c.(796-798)tTc>tCc	p.F266S	FOXA1_uc010tpz.2_Missense_Mutation_p.F233S	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	266					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726000													5	21					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601966	52601966	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:52601966G>T	uc002xws.2	-	6	1338	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K	BCAS1_uc010zza.1_Missense_Mutation_p.Q92K|BCAS1_uc010zzb.1_Missense_Mutation_p.Q282K|BCAS1_uc010gim.2_Missense_Mutation_p.Q282K|BCAS1_uc002xwt.2_Missense_Mutation_p.Q334K|BCAS1_uc010gil.1_Missense_Mutation_p.Q334K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	334						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCCCCTTGGGTCTCCTGG	0.502000													89	157					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79692791	79692791	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:79692791T>A	uc011dyp.2	-	22	2804	c.2578A>T	c.(2578-2580)Att>Ttt	p.I860F	PHIP_uc003piq.3_5'UTR|PHIP_uc003pir.3_Missense_Mutation_p.I861F	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	861					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCAGATTAATTCCTGCATCT	0.363000													7	82					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:24247038G>A	uc002reo.2	+	12	1401	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	463					transport	integral to membrane		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607000													7	32					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64416297	64416297	+	Silent	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:64416297G>T	uc021qkw.1	-	15	3654	c.3192C>A	c.(3190-3192)ggC>ggA	p.G1064G	NRXN2_uc021qkx.1_Silent_p.G1024G|NRXN2_uc001oas.3_Silent_p.G1024G|NRXN2_uc001oaq.3_Silent_p.G731G	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1064	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCAGGCAGCCCTGAAAGC	0.617000													8	118					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:114269973A>G	uc003vhb.3	+	4	884	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q195Q|FOXP2_uc003vha.3_Silent_p.Q78Q|FOXP2_uc011kmv.2_Silent_p.Q170Q|FOXP2_uc011kmu.2_Silent_p.Q187Q|FOXP2_uc010ljz.2_Silent_p.Q78Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhc.3_Silent_p.Q195Q|FOXP2_uc003vhd.3_Silent_p.Q170Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	57					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691469	90691469	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:90691469G>A	uc022bzs.1	+	0	893	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PABPC5_uc004efg.3_Missense_Mutation_p.R298Q	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	298						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAAAAAGTCGGCCCCCAGGG	0.453000													4	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256714	113256714	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr8:113256714G>A	uc003ynu.3	-	64	10470	c.10311C>T	c.(10309-10311)acC>acT	p.T3437T	CSMD3_uc003yns.3_Silent_p.T2639T|CSMD3_uc003ynt.3_Silent_p.T3397T|CSMD3_uc011lhx.2_Silent_p.T3268T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3437	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGCTGACAGGTATAAATCA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			90	45					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:145293478C>T	uc021oul.1	+	0	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.R25C|NBPF10_uc001emq.1_Missense_Mutation_p.R25C	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	25										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502000													6	728					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067364	37067364	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:37067364G>A	uc003cgl.3	+	11	1473	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	MLH1_uc011aye.2_Silent_p.R184R|MLH1_uc011ayb.2_Silent_p.R184R|MLH1_uc010hge.3_Silent_p.R425R|MLH1_uc011ayc.2_Silent_p.R327R|MLH1_uc011ayd.2_Silent_p.R184R|MLH1_uc003cgo.3_Silent_p.R184R|MLH1_uc003cgn.4_Silent_p.R184R|MLH1_uc010hgg.1_Silent_p.R84R|MLH1_uc010hgh.1_Silent_p.R84R|MLH1_uc010hgi.1_Silent_p.R67R|MLH1_uc010hgj.1_Silent_p.R67R|MLH1_uc010hgk.3_Silent_p.R67R|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Silent_p.R67R|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Silent_p.R67R	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	425	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGGGCTAGGCAGCAAGATG	0.517000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	129					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6734270	6734270	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:6734270G>A	uc002mfp.3	-	4	469	c.423C>T	c.(421-423)ccC>ccT	p.P141P	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	141						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAGGAGCCCGGGAAAGATAA	0.642000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44069763	44069763	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:44069763G>A	uc001mxw.1	+	0	233	c.177G>A	c.(175-177)agG>agA	p.R59R	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	59							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGAAAGGAGGCACACTGAGG	0.587000													4	103					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99212613	99212614	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:99212613_99212614delGA	uc010msg.3	+	0	200_201	c.52_53delGA	c.(52-54)gagfs	p.E18fs	HABP4_uc010msh.3_Frame_Shift_Del_p.E18fs	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	Homo sapiens hyaluronan binding protein 4 (HABP4), mRNA.	18					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGCGATGCAGGAGAGTTTCGGC	0.733													2	4	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54799323	54799323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:54799323delT	uc021smr.1	+	20	5304	c.5304delT	c.(5302-5304)aatfs	p.N1768fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.N1770fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1770	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGACTATCAATAAAGTGCTGC	0.318													2	4	---	---	---	---					
