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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC108	255101	broad.mit.edu	37	2	219871203	219871204	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:219871203_219871204GG>AA	uc002vjl.1	-	29	4786_4787	c.4702_4703CC>TT	c.(4702-4704)cct>TTt	p.P1568F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1568						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCTCGCAGGTTCACAGGCT	0.574000														78			40		0	0	0.004672	0	0
OR6C3	254786	broad.mit.edu	37	12	55726246	55726246	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:55726246C>T	uc010spj.2	+	0	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCTGTATATTCATGTATGCTA	0.388000														14			4		0	0	0.000248	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														14			8		0	0	0.003080	0	0
SSX9	280660	broad.mit.edu	37	X	48163767	48163767	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:48163767C>T	uc022bvu.1	-	1	81	c.79G>A	c.(79-81)Gat>Aat	p.D27N						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGCAATATCATCGAAGGCC	0.428000														35			13		0	0	0.001855	0	0
DAXX	1616	broad.mit.edu	37	6	33288198	33288199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:33288198_33288199GG>AA	uc003oec.3	-	3	1413_1414	c.1209_1210CC>TT	c.(1207-1212)tcccac>tcTTac	p.H404Y	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.H404Y|DAXX_uc021ywo.1_Missense_Mutation_p.H404Y|DAXX_uc011dre.2_Missense_Mutation_p.H416Y|DAXX_uc003oed.3_Missense_Mutation_p.H404Y|DAXX_uc011drd.2_Missense_Mutation_p.H329Y|DAXX_uc010juw.2_Missense_Mutation_p.H329Y	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	404	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTGCAGAGTGGGAAGAGGTGC	0.550000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									49			24		0	0	0.004672	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370147	35370147	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:35370147G>A	uc001byc.3	-	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	280					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.P280A(2)|p.P280H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCTCCCCAGGGGGCCTCCCA	0.677000														61			7		0	0	0.001984	0	0
OR1G1	8390	broad.mit.edu	37	17	3030585	3030585	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:3030585G>A	uc002fvc.1	-	0	261	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CCTGACTCTGGATCTGTATGT	0.483000														23			19		0	0	0.007413	0	0
TDGF1	6997	broad.mit.edu	37	3	46620588	46620588	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:46620588G>A	uc003cpv.3	+	1	423	c.39G>A	c.(37-39)gtG>gtA	p.V13V	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_5'UTR	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	13					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTCCTAGTGTGATTTGGATCA	0.408000														53			35		0	0	0.002222	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646648	48646648	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:48646648C>T	uc002irk.1	+	2	849	c.477C>T	c.(475-477)atC>atT	p.I159I	CACNA1G_uc002iri.1_Silent_p.I159I|CACNA1G_uc002irj.1_Silent_p.I159I|CACNA1G_uc002irl.1_Silent_p.I159I|CACNA1G_uc002irm.1_Silent_p.I159I|CACNA1G_uc002irn.1_Silent_p.I159I|CACNA1G_uc002iro.1_Silent_p.I159I|CACNA1G_uc002irp.1_Silent_p.I159I|CACNA1G_uc002irq.1_Silent_p.I159I|CACNA1G_uc002irr.1_Silent_p.I159I|CACNA1G_uc002irs.1_Silent_p.I159I|CACNA1G_uc002irt.1_Silent_p.I159I|CACNA1G_uc002iru.1_Silent_p.I159I|CACNA1G_uc002irv.1_Silent_p.I159I|CACNA1G_uc002irw.1_Silent_p.I159I|CACNA1G_uc002irx.1_Silent_p.I72I|CACNA1G_uc002iry.1_Silent_p.I72I|CACNA1G_uc002isg.1_Silent_p.I72I|CACNA1G_uc002ish.1_Silent_p.I72I|CACNA1G_uc002isi.1_Silent_p.I72I|CACNA1G_uc002irz.1_Silent_p.I72I|CACNA1G_uc002isa.1_Silent_p.I72I|CACNA1G_uc002isd.1_Silent_p.I72I|CACNA1G_uc002isb.1_Silent_p.I72I|CACNA1G_uc002isc.1_Silent_p.I72I|CACNA1G_uc002ise.1_Silent_p.I72I|CACNA1G_uc002isf.1_Silent_p.I72I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	159					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTTTTCATCGTCATCGCAG	0.582000														49			7		0	0	0.003080	0	0
FAM113B	91523	broad.mit.edu	37	12	47629311	47629311	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:47629311C>T	uc001rpq.3	+	1	990	c.465C>T	c.(463-465)ccC>ccT	p.P155P	FAM113B_uc001rpn.3_Silent_p.P155P|FAM113B_uc021qxi.1_Silent_p.P155P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	155							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGGTGCTGCCCGAGTCTTGCC	0.622000														55			7		0	0	0.004482	0	0
SRSF12	135295	broad.mit.edu	37	6	89808499	89808499	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:89808499G>T	uc021zcq.1	-	4	778	c.584C>A	c.(583-585)tCa>tAa	p.S195*		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.	195	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	RNA binding|RS domain binding|nucleotide binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACTTGACTGTGATTTTCCTAT	0.443000														169			6		0.00198382	0.00384337	0.001984	1	0
EDEM2	55741	broad.mit.edu	37	20	33711741	33711741	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:33711741G>A	uc002xbo.2	-	8	1166	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	EDEM2_uc010zuv.1_Missense_Mutation_p.P315S|EDEM2_uc010zus.1_Missense_Mutation_p.P135S|EDEM2_uc002xbq.2_Missense_Mutation_p.P319S|EDEM2_uc010zut.1_Missense_Mutation_p.P315S|EDEM2_uc002xbn.2_Missense_Mutation_p.P204S|EDEM2_uc010zuu.1_Missense_Mutation_p.P80S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	356					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TATCCCTGAGGAATGTTGTAG	0.527000														34			18		0	0	0.002780	0	0
NBEAL1	65065	broad.mit.edu	37	2	203921152	203921152	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:203921152A>C	uc002uzt.3	+	4	641	c.308A>C	c.(307-309)aAt>aCt	p.N103T	NBEAL1_uc002uzq.3_Missense_Mutation_p.N103T|NBEAL1_uc010zid.1_Missense_Mutation_p.N52T|NBEAL1_uc010zie.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	103							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTCACAGAAATCTATCAAAT	0.328000														181			44		0	0	0.003610	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148800397	148800398	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:148800397_148800398GG>AA	uc003ilf.3	+	8	847_848	c.847_848GG>AA	c.(847-849)ggt>AAt	p.G283N	ARHGAP10_uc003ilg.3_5'Flank	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	283	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGCTCCGTTTGGTTCCAGTTGG	0.386000														31			20		0	0	0.004672	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481640	95481640	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:95481640C>A	uc010fhq.2	-	1	740	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	536										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTTCTTTTTCCAAGTTGTCAT	0.299000														27			10		6.40141e-05	0.000124576	0.000978	1	0
GPR171	29909	broad.mit.edu	37	3	150916784	150916784	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:150916784A>C	uc003eyq.4	-	2	630	c.390T>G	c.(388-390)ttT>ttG	p.F130L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.F130L	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	130						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTTTGGCAAATCCGGGTT	0.393000														17			10		0	0	0.008291	0	0
MUC2	4583	broad.mit.edu	37	11	1097261	1097262	+	Missense_Mutation	DNP	TG	CC	CC			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:1097261_1097262TG>CC	uc001lsx.1	+	36	6692_6693	c.6665_6666TG>CC	c.(6664-6666)gtg>gCC	p.V2222A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4588						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATCAACTACGTGGTGGACATCC	0.609000														10			15		0	0	0.004672	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954616	161954616	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:161954616C>T	uc010pkq.2	-	6	2056	c.1632G>A	c.(1630-1632)cgG>cgA	p.R544R	OLFML2B_uc001gbt.3_Silent_p.R26R|OLFML2B_uc001gbu.3_Silent_p.R543R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	543	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCTCCAGGTTCCGGAACTCTA	0.517000														138			22		0	0	0.003330	0	0
PLA2R1	22925	broad.mit.edu	37	2	160889546	160889546	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:160889546C>T	uc002ube.2	-	3	977	c.765G>A	c.(763-765)gaG>gaA	p.E255E	PLA2R1_uc010zcp.2_Silent_p.E255E|PLA2R1_uc002ubf.3_Silent_p.E255E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	255	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAGAATGTGCCTCACTCCAAG	0.433000														42			9		0	0	0.006214	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409088	105409088	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:105409088G>A	uc010axc.1	-	6	12820	c.12700C>T	c.(12700-12702)Ccc>Tcc	p.P4234S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4134S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4234						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCTGGGGGCCCTTGAGG	0.652000														77			19		0	0	0.002299	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090984	91090984	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:91090984C>T	uc004efk.2	+	0	1326	c.481C>T	c.(481-483)Cca>Tca	p.P161S	PCDH11X_uc004efl.2_Missense_Mutation_p.P161S|PCDH11X_uc010nmv.2_Missense_Mutation_p.P161S|PCDH11X_uc004efm.2_Missense_Mutation_p.P161S|PCDH11X_uc004efn.2_Missense_Mutation_p.P161S|PCDH11X_uc004efo.2_Missense_Mutation_p.P161S|PCDH11X_uc004efh.2_Missense_Mutation_p.P161S|PCDH11X_uc004efj.1_Missense_Mutation_p.P161S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	161	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATATACTCTCCCAGCGGCTGT	0.353000														23			8		0	0	0.003080	0	0
DPP10	57628	broad.mit.edu	37	2	116538498	116538498	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:116538498C>T	uc002tle.3	+	15	1443	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	DPP10_uc002tla.2_Silent_p.F470F|DPP10_uc002tlb.2_Silent_p.F420F|DPP10_uc002tlc.2_Silent_p.F466F|DPP10_uc002tlf.2_Silent_p.F463F	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	470					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATGTAATTTCATGAAAGAAC	0.308000														19			5		0	0	0.001168	0	0
ADAD1	132612	broad.mit.edu	37	4	123314757	123314757	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:123314757C>T	uc003ieo.3	+	5	775	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ADAD1_uc003iep.3_Silent_p.F181F|ADAD1_uc003ieq.3_Silent_p.F163F	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	181					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCCTCCTTTCCCTGCAGAAC	0.343000														18			4		0	0	0.000602	0	0
MYH4	4622	broad.mit.edu	37	17	10364279	10364279	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10364279G>A	uc002gmn.3	-	11	1212	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	367	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTTTGCTTGAATTTCATGT	0.478000														36			23		0	0	0.003954	0	0
EXTL3	2137	broad.mit.edu	37	8	28575288	28575288	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:28575288G>A	uc003xgz.1	+	2	2305	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	571						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCTGACAACGGGGACCTGGAC	0.627000														26			16		0	0	0.004990	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480878	140480878	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140480878G>A	uc003lio.3	+	0	645	c.645G>A	c.(643-645)ctG>ctA	p.L215L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCGCGCTGGACGGCGGCT	0.567000														24			10		0	0	0.001368	0	0
CCDC144A	9720	broad.mit.edu	37	17	16699419	16699419	+	RNA	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:16699419G>A	uc010cpj.1	+	16		c.3957G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CCATCAACCTGGACAGCTGTC	0.542000														44			13		0	0	0.001855	0	0
PRTG	283659	broad.mit.edu	37	15	55965814	55965814	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:55965814G>A	uc002adg.3	-	9	1655	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	PRTG_uc002adh.3_Missense_Mutation_p.S38F	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	536	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCAGCCAGGAGATGAGAAT	0.448000														46			23		0	0	0.003330	0	0
CHD5	26038	broad.mit.edu	37	1	6195313	6195313	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:6195313C>T	uc001amb.2	-	17	2958	c.2847G>A	c.(2845-2847)cgG>cgA	p.R949R	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	949					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAGCTCCACCCGGACAATGA	0.617000														28			30		0	0	0.008361	0	0
DNAH9	1770	broad.mit.edu	37	17	11797735	11797735	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:11797735C>T	uc002gne.3	+	58	11396	c.11328C>T	c.(11326-11328)ttC>ttT	p.F3776F	DNAH9_uc010coo.3_Silent_p.F3070F|DNAH9_uc002gnf.3_Silent_p.F88F|DNAH9_uc010vvh.1_Silent_p.F129F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3776					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTTGGATTTCCTGCTTCGAT	0.512000														52			13		0	0	0.002450	0	0
C1orf55	163859	broad.mit.edu	37	1	226179048	226179048	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:226179048G>A	uc001hpu.4	-	4	590	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	179										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					CCATCTTGCTGGAGGCAGCCT	0.418000														44			16		0	0	0.004990	0	0
FBN3	84467	broad.mit.edu	37	19	8146297	8146297	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8146297G>A	uc002mjf.3	-	56	7298	c.7281C>T	c.(7279-7281)ttC>ttT	p.F2427F	FBN3_uc002mje.3_Silent_p.F266F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2427	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCACAGGAAACTGCCCT	0.592000														32			18		0	0	0.007413	0	0
PANK4	55229	broad.mit.edu	37	1	2452661	2452661	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:2452661T>G	uc001ajm.1	-	2	310	c.301A>C	c.(301-303)Atc>Ctc	p.I101L	PANK4_uc010nza.1_Missense_Mutation_p.I101L	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	101					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CAGGCTTCGATGTAGGTATTC	0.498000														64			33		0	0	0.002096	0	0
C2orf42	54980	broad.mit.edu	37	2	70402819	70402819	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:70402819G>A	uc002sgh.3	-	4	1353	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	342										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCTTTTTAACGAGGAAGCAAC	0.448000														208			44		0	0	0.003610	0	0
LPHN1	22859	broad.mit.edu	37	19	14266174	14266174	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:14266174C>T	uc010xnn.2	-	18	3602	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	LPHN1_uc010xno.2_Silent_p.K1097K|LOC100507373_uc002myf.3_Non-coding_Transcript	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACCTTCTTCTGTAAGG	0.592000														66			33		0	0	0.006230	0	0
CRP	1401	broad.mit.edu	37	1	159683548	159683548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:159683548C>T	uc001ftw.3	-	1	546	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	148	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATGCTTGCTTCTGCCCCCACA	0.547000														180			105		0	0	0.003610	0	0
CDK13	8621	broad.mit.edu	37	7	40134017	40134017	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:40134017G>A	uc003thh.4	+	13	4259	c.3977G>A	c.(3976-3978)gGa>gAa	p.G1326E	CDK13_uc003thi.4_Missense_Mutation_p.G1266E|CDK13_uc003thj.3_Missense_Mutation_p.G377E|CDK13_uc003thk.3_Missense_Mutation_p.G259E	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1326					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATCAAGCAGGAGACACTTAC	0.493000														46			18		0	0	0.006122	0	0
CXorf56	63932	broad.mit.edu	37	X	118699269	118699269	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:118699269C>A	uc004erk.2	-	0	129	c.50G>T	c.(49-51)cGg>cTg	p.R17L	CXorf56_uc004erj.2_5'UTR|CXorf56_uc011mtu.2_Missense_Mutation_p.R17L	NM_022101	NP_001164040	Q9H5V9	CX056_HUMAN	Homo sapiens chromosome X open reading frame 56 (CXorf56), transcript variant 1, mRNA.	17							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ATATTCCTCCCGGTCCCGAGT	0.572000														51			12		4.3838e-07	8.56969e-07	0.001855	1	0
TRAT1	50852	broad.mit.edu	37	3	108572518	108572518	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:108572518G>A	uc003dxi.1	+	5	499	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	TRAT1_uc010hpx.1_Missense_Mutation_p.G82R	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	119					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.G119W(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAGCGTTAAGGGGAAGCGTAG	0.418000														20			9		0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997268	146997268	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:146997268C>T	uc003weu.2	+	8	1900	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	462	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCACGAGGTTCGCTTCCTAGC	0.403000										HNSCC(39;0.1)				17			14		0	0	0.007413	0	0
FBXO10	26267	broad.mit.edu	37	9	37521707	37521707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:37521707G>A	uc004aac.3	-	7	2187	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	FBXO10_uc004aab.3_Nonsense_Mutation_p.R687*|FBXO10_uc004aad.3_Nonsense_Mutation_p.R237*	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	687						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTGTGGCCTCGAGGTAACTCG	0.602000														11			17		0	0	0.001523	0	0
CCDC24	149473	broad.mit.edu	37	1	44461725	44461725	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:44461725C>T	uc001clj.3	+	8	988	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Nonsense_Mutation_p.R237*	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	273										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTTCGACCTCGAGGCCAGTC	0.682000														29			19		0	0	0.008871	0	0
CELSR1	9620	broad.mit.edu	37	22	46930320	46930320	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:46930320G>A	uc003bhw.1	-	0	2748	c.2748C>T	c.(2746-2748)gcC>gcT	p.A916A		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	916	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.S915C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCGGTCCGTGGCAGAGACCT	0.597000														33			4		0	0	0.000602	0	0
RIT2	6014	broad.mit.edu	37	18	40695455	40695455	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:40695455G>A	uc002lav.3	-	0	203	c.30C>T	c.(28-30)tcC>tcT	p.S10S	RIT2_uc010dnf.3_Silent_p.S10S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	10					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCTGCCCGGGGAGCAGCTGG	0.532000														31			7		0	0	0.008291	0	0
FLNC	2318	broad.mit.edu	37	7	128480207	128480207	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:128480207G>A	uc003vnz.4	+	8	1751	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	FLNC_uc003voa.4_Silent_p.K514K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	514					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACGGTCAAGGGGCCAAGTG	0.627000														67			27		0	0	0.006320	0	0
ABHD15	116236	broad.mit.edu	37	17	27893573	27893573	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27893573C>T	uc002hed.2	-	0	470	c.412G>A	c.(412-414)Gac>Aac	p.D138N	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	138						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACCACCCAGTCCAGGGCCACT	0.687000														15			4		0	0	0.000248	0	0
SERINC1	57515	broad.mit.edu	37	6	122767981	122767981	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:122767981G>A	uc003pyy.1	-	8	1234	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	388					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TGAAGTGAAAGAAGGAATAAC	0.413000														15			5		0	0	0.000602	0	0
NPLOC4	55666	broad.mit.edu	37	17	79573742	79573743	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:79573742_79573743GG>AA	uc002kau.3	-	6	810_811	c.628_629CC>TT	c.(628-630)ccg>TTg	p.P210L	NPLOC4_uc002kat.4_Missense_Mutation_p.P210L|NPLOC4_uc010wur.1_Missense_Mutation_p.P49L	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	210					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATGGCGCTCGGCTGGCACTTA	0.530000														24			14		0	0	0.004672	0	0
C14orf133	63894	broad.mit.edu	37	14	77901669	77901669	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:77901669G>A	uc001xtt.2	-	14	1397	c.980C>T	c.(979-981)tCc>tTc	p.S327F	C14orf133_uc001xtu.2_Missense_Mutation_p.S327F|C14orf133_uc001xtv.2_Missense_Mutation_p.S327F|C14orf133_uc021rwu.1_Missense_Mutation_p.S327F|C14orf133_uc010tvj.2_Missense_Mutation_p.S278F	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	327					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTTGAGGATGGAGGCTTTGCG	0.463000														52			9		0	0	0.004482	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:123988472C>T	uc001pzu.3	+	3	345	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_uc001pzr.3_Missense_Mutation_p.P46S|VWA5A_uc001pzs.3_Missense_Mutation_p.P46S|VWA5A_uc010sae.2_Missense_Mutation_p.P62S|VWA5A_uc001pzt.3_Missense_Mutation_p.P46S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000														38			28		0	0	0.002445	0	0
TCF7L2	6934	broad.mit.edu	37	10	114903757	114903757	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:114903757C>T	uc021pyi.1	+	6	1268	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TCF7L2_uc001lah.3_Missense_Mutation_p.P231L|TCF7L2_uc010qro.2_Missense_Mutation_p.P231L|TCF7L2_uc001lae.4_Missense_Mutation_p.P254L|TCF7L2_uc010qrm.2_Missense_Mutation_p.P254L|TCF7L2_uc010qrn.2_Missense_Mutation_p.P197L|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.P231L|TCF7L2_uc021pyj.1_Missense_Mutation_p.P254L|TCF7L2_uc021pyk.1_Missense_Mutation_p.P231L|TCF7L2_uc021pyl.1_Missense_Mutation_p.P231L|TCF7L2_uc010qrp.2_Missense_Mutation_p.P231L|TCF7L2_uc021pym.1_Missense_Mutation_p.P231L|TCF7L2_uc021pyn.1_Missense_Mutation_p.P254L|TCF7L2_uc021pyo.1_Missense_Mutation_p.P254L|TCF7L2_uc021pyp.1_Missense_Mutation_p.P254L|TCF7L2_uc010qrq.2_Missense_Mutation_p.P231L|TCF7L2_uc001lac.4_Missense_Mutation_p.P231L|TCF7L2_uc010qrk.2_Missense_Mutation_p.P231L|TCF7L2_uc001lad.4_Missense_Mutation_p.P231L|TCF7L2_uc001lag.4_Missense_Mutation_p.P278L|TCF7L2_uc001laf.4_Missense_Mutation_p.P231L|TCF7L2_uc010qrl.2_Missense_Mutation_p.P231L|TCF7L2_uc010qrr.2_Missense_Mutation_p.P173L|TCF7L2_uc010qrs.2_Missense_Mutation_p.P125L|TCF7L2_uc010qrt.2_Missense_Mutation_p.P125L|TCF7L2_uc010qru.2_Missense_Mutation_p.P148L|TCF7L2_uc010qrv.2_Missense_Mutation_p.P71L|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Missense_Mutation_p.P111L	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	254	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGACAAATCCCCCATCCGCTA	0.458000			T	VTI1A	colorectal									210			48		0	0	0.003610	0	0
TAMM41	132001	broad.mit.edu	37	3	11887979	11887979	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:11887979C>T	uc011auo.1	-	0	374	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TAMM41_uc003bwh.3_Silent_p.Q44Q|TAMM41_uc003bwi.3_Non-coding_Transcript|TAMM41_uc011aup.1_Non-coding_Transcript|TAMM41_uc010hdy.1_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	44					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											GGCTCACCTTCTGGTCTGAAC	0.622000														33			9		0	0	0.004482	0	0
CUX2	23316	broad.mit.edu	37	12	111785456	111785456	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:111785456C>T	uc001tsa.2	+	21	3942	c.3788C>T	c.(3787-3789)tCt>tTt	p.S1263F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCCCTGACTCTGAGACTGAG	0.637000														24			20		0	0	0.001523	0	0
GCKR	2646	broad.mit.edu	37	2	27729363	27729363	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:27729363C>T	uc002rky.3	+	10	951	c.885C>T	c.(883-885)atC>atT	p.I295I	GCKR_uc010ezd.3_Silent_p.I295I|GCKR_uc010ylu.2_Silent_p.I105I	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	295					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCCTGGAAATCTTGCGGACAT	0.552000														20			20		0	0	0.002780	0	0
TRPC7	57113	broad.mit.edu	37	5	135583207	135583207	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:135583207T>C	uc003lbn.2	-	6	2018	c.1796A>G	c.(1795-1797)aAc>aGc	p.N599S	TRPC7_uc010jef.2_Missense_Mutation_p.N535S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.N150S|TRPC7_uc010jeh.2_Missense_Mutation_p.N538S|TRPC7_uc010jei.2_Missense_Mutation_p.N483S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	599					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGTACAGGTTGAACATCCC	0.483000														31			7		0	0	0.001984	0	0
DDX4	54514	broad.mit.edu	37	5	55081648	55081648	+	Nonsense_Mutation	SNP	C	G	G	rs146554855		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:55081648C>G	uc003jqg.4	+	12	912	c.813C>G	c.(811-813)taC>taG	p.Y271*	DDX4_uc010ivz.3_Nonsense_Mutation_p.Y251*|DDX4_uc003jqh.4_Nonsense_Mutation_p.Y237*|DDX4_uc003jqj.3_Nonsense_Mutation_p.Y122*	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	271					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCGACAAATACGACACTATTC	0.433000														13			4		0	0	0.000248	0	0
FBN3	84467	broad.mit.edu	37	19	8194143	8194143	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8194143G>A	uc002mjf.3	-	15	2168	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	717	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTTGCCTGAGGCACCTGCCT	0.637000														42			7		0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28502277	28502277	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:28502277G>A	uc001zbj.3	-	16	2553	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F	HERC2_uc001zbl.1_Missense_Mutation_p.S511F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	816					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGTCCGCGGAACCATCCAT	0.552000														52			20		0	0	0.007413	0	0
ZIM3	114026	broad.mit.edu	37	19	57647093	57647093	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:57647093G>A	uc002qnz.1	-	4	998	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A203A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTCTCCCCGAATGCTCTTC	0.443000														62			18		0	0	0.006122	0	0
NISCH	11188	broad.mit.edu	37	3	52521747	52521747	+	Missense_Mutation	SNP	C	T	T	rs62256878		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52521747C>T	uc003ded.4	+	15	2373	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	NISCH_uc003dee.4_Missense_Mutation_p.R236W|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	747	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGGAGTCTCGGGGCAGCAG	0.612000														35			12		0	0	0.001855	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133373	91133373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:91133373C>T	uc004efk.2	+	1	2979	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	PCDH11X_uc004efl.2_Missense_Mutation_p.R712C|PCDH11X_uc010nmv.2_Missense_Mutation_p.R712C|PCDH11X_uc004efm.2_Missense_Mutation_p.R712C|PCDH11X_uc004efn.2_Missense_Mutation_p.R712C|PCDH11X_uc004efo.2_Missense_Mutation_p.R712C|PCDH11X_uc004efh.2_Missense_Mutation_p.R712C|PCDH11X_uc004efj.1_Missense_Mutation_p.R712C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	712	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGAGGTTCGTTACAGCAT	0.428000														31			11		0	0	0.003163	0	0
MYOCD	93649	broad.mit.edu	37	17	12626254	12626254	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:12626254G>A	uc002gno.2	+	4	643	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R115Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R19Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	115					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTGCTCTACGACCAGGGCCA	0.468000														102			22		0	0	0.002299	0	0
LIG4	3981	broad.mit.edu	37	13	108861056	108861056	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:108861056G>A	uc001vqn.3	-	1	2834	c.2561C>T	c.(2560-2562)tCt>tTt	p.S854F	LIG4_uc001vqo.3_Missense_Mutation_p.S854F|LIG4_uc010agf.3_Missense_Mutation_p.S854F|LIG4_uc001vqp.3_Missense_Mutation_p.S854F|LIG4_uc010agg.1_Missense_Mutation_p.S787F|LIG4_uc021rmk.1_Missense_Mutation_p.S854F	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	854	BRCT 2.				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCTAAACAAGAAACTACTTT	0.373000								Non-homologous end-joining						31			19		0	0	0.002299	0	0
FAM117A	81558	broad.mit.edu	37	17	47793567	47793567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47793567G>A	uc002ipk.3	-	6	1090	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	FAM117A_uc010wlz.2_Missense_Mutation_p.P69S	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	341										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAGCCTTCTGGGGGCTCCCGT	0.557000														39			14		0	0	0.006122	0	0
CRYAA	1409	broad.mit.edu	37	21	44592263	44592263	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:44592263C>T	uc002zdd.1	+	2	464	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	132					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.S132S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTCTCTTGCTCCCTGTCTGCC	0.672000														27			11		0	0	0.000978	0	0
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:18149669G>A	uc001bat.3	+	1	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	56						cytoplasm|cytoskeleton		p.D56Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572000														65			22		0	0	0.004656	0	0
MARCH10	162333	broad.mit.edu	37	17	60821840	60821840	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:60821840C>T	uc010dds.3	-	5	831	c.546G>A	c.(544-546)agG>agA	p.R182R	MARCH10_uc010ddr.3_Silent_p.R144R|MARCH10_uc002jag.4_Silent_p.R144R|MARCH10_uc002jah.2_Silent_p.R143R	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	144							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGTAAATCTCCTCAGGTTTG	0.468000														53			9		0	0	0.008291	0	0
IL36A	27179	broad.mit.edu	37	2	113765561	113765561	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:113765561C>T	uc010yxr.2	+	3	417	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GTCCTCTCATCCTTACCCAAG	0.507000														24			17		0	0	0.008871	0	0
CDCP1	64866	broad.mit.edu	37	3	45130573	45130573	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:45130573C>T	uc003com.3	-	7	2189	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	685						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AATGATGAGCCCGAGGGCAGA	0.483000														24			5		0	0	0.000602	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623362	46623362	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:46623362C>T	uc009zkj.1	-	3	868	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SLC38A1_uc001rpb.3_Silent_p.K61K|SLC38A1_uc001rpc.3_Silent_p.K61K|SLC38A1_uc001rpd.3_Silent_p.K61K|SLC38A1_uc001rpe.3_Silent_p.K61K|SLC38A1_uc010slh.2_Silent_p.K34K|SLC38A1_uc001rpa.3_Silent_p.K61K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	61					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CATCACACTTCTTTTTTTCCA	0.284000														39			22		0	0	0.001882	0	0
ZAN	7455	broad.mit.edu	37	7	100386926	100386926	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:100386926C>T	uc003uwj.3	+	39	7476	c.7311C>T	c.(7309-7311)acC>acT	p.T2437T	ZAN_uc003uwk.3_Silent_p.T2437T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.T488T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2438	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCTGGTCACCGACTTTGAGC	0.542000														47			17		0	0	0.006122	0	0
KCNK17	89822	broad.mit.edu	37	6	39272382	39272382	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:39272382G>A	uc003ooo.3	-	2	543	c.402C>T	c.(400-402)atC>atT	p.I134I	KCNK17_uc003oop.3_Silent_p.I134I	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	134						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GGGCAAAGAAGATGCAGAAGA	0.622000														56			67		0	0	0.003610	0	0
R3HDM4	91300	broad.mit.edu	37	19	899628	899628	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:899628G>A	uc002lqg.2	-	5	688	c.620C>T	c.(619-621)gCc>gTc	p.A207V		NM_138774	NP_620129	Q96D70	CS022_HUMAN	Homo sapiens R3H domain containing 4 (R3HDM4), mRNA.	207	R3H.					nucleus	nucleic acid binding										TGTGTACACGGCCTGGGGGGA	0.692000														8			7		0	0	0.004482	0	0
MUTYH	4595	broad.mit.edu	37	1	45799205	45799205	+	Silent	SNP	T	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:45799205T>A	uc001cnm.3	-	2	435	c.219A>T	c.(217-219)gtA>gtT	p.V73V	MUTYH_uc001cnf.3_Silent_p.V48V|MUTYH_uc009vxo.3_Silent_p.V48V|MUTYH_uc001cng.3_Silent_p.V59V|MUTYH_uc001cnj.3_Intron|MUTYH_uc001cni.3_Silent_p.V48V|MUTYH_uc001cnh.3_Silent_p.V49V|MUTYH_uc001cnl.3_Silent_p.V62V|MUTYH_uc009vxp.3_Silent_p.V76V|MUTYH_uc001cnn.3_Silent_p.V63V|MUTYH_uc001cno.3_Intron|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	73					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGCCTGCAATACCACCTCTT	0.592000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					25			19		0	0	0.007413	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011020	105011020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:105011020C>T	uc004elz.1	+	10	2183	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	476	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGCTAACTCCAGACTATATT	0.378000														18			11		0	0	0.000978	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476850	42476850	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:42476850G>A	uc002igw.2	-	7	2814	c.2595C>T	c.(2593-2595)tcC>tcT	p.S865S	GPATCH8_uc002igv.2_Silent_p.S787S|GPATCH8_uc010wiz.2_Silent_p.S787S	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	865	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AACGCCGGGAGGAACGATGCG	0.542000														70			12		0	0	0.000978	0	0
FAM189B	10712	broad.mit.edu	37	1	155220925	155220925	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155220925C>T	uc001fjm.3	-	7	1531	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	FAM189B_uc009wql.3_Missense_Mutation_p.G75S|FAM189B_uc001fjn.3_Missense_Mutation_p.G213S|FAM189B_uc001fjo.3_Missense_Mutation_p.G291S|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	309						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATGCACGAGCCATCGTGAAGC	0.592000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			10		0	0	0.000978	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672055	39672055	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:39672055G>A	uc021wjc.1	+	0	872	c.872G>A	c.(871-873)aGc>aAc	p.S291N	KCNJ15_uc002ywv.3_Missense_Mutation_p.S291N|KCNJ15_uc002yww.3_Missense_Mutation_p.S291N|KCNJ15_uc002ywx.3_Missense_Mutation_p.S291N	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	291					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GAATCCACCAGCGCTGTCTGC	0.498000														28			6		0	0	0.001168	0	0
PRPF8	10594	broad.mit.edu	37	17	1585565	1585565	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:1585565C>T	uc002fte.3	-	3	406	c.292G>A	c.(292-294)Gca>Aca	p.A98T		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	98						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGAGGACTGCGTGGGGCATG	0.507000														54			16		0	0	0.008871	0	0
FBXO40	51725	broad.mit.edu	37	3	121341537	121341537	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:121341537G>A	uc003eeg.2	+	2	1471	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	421					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAGCATTGATGGACTGTTCAT	0.512000														77			12		0	0	0.003163	0	0
VPRBP	9730	broad.mit.edu	37	3	51467537	51467537	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:51467537G>A	uc003dbe.2	-	9	1441	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	VPRBP_uc021wys.1_Missense_Mutation_p.A418V	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	472					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCCAAGACGGCCCGAAATGA	0.473000														22			6		0	0	0.001168	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791921	37791921	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:37791921G>A	uc002hrz.3	+	5	976	c.507G>A	c.(505-507)ctG>ctA	p.L169L	PPP1R1B_uc010cvx.3_Silent_p.L136L|PPP1R1B_uc002hsb.3_Silent_p.L133L|PPP1R1B_uc002hsc.3_Silent_p.L133L|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	169					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACCCCCTCTGGATGAGTCCG	0.592000														62			27		0	0	0.006320	0	0
NBEA	26960	broad.mit.edu	37	13	35619123	35619123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:35619123G>A	uc021rid.1	+	2	1100	c.566G>A	c.(565-567)aGc>aAc	p.S189N	NBEA_uc021ric.1_Missense_Mutation_p.S189N	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	189						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCAGCTACAGCATCACTGTC	0.433000														8			4		0	0	0.000248	0	0
C6orf222	389384	broad.mit.edu	37	6	36287211	36287211	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:36287211G>A	uc003oly.3	-	10	2023	c.1845C>T	c.(1843-1845)aaC>aaT	p.N615N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	615										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGGCATGGCTGTTGCTGCCAG	0.562000														48			72		0	0	0.003610	0	0
PARP1	142	broad.mit.edu	37	1	226566965	226566965	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:226566965G>A	uc001hqd.4	-	11	1794	c.1623C>T	c.(1621-1623)caC>caT	p.H541H		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	541					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CATGCGCAGAGTGTTCCAGTC	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						101			20		0	0	0.003954	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266166	44266166	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:44266166C>T	uc010xcy.1	-	5	1216	c.648G>A	c.(646-648)agG>agA	p.R216R	ST8SIA5_uc002lci.1_Silent_p.R27R|ST8SIA5_uc002lcj.1_Silent_p.R180R|ST8SIA5_uc010xcz.1_Silent_p.R149R	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	180					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGTTGATCTCCCTCCCGCAGC	0.592000														33			7		0	0	0.000978	0	0
MMP28	79148	broad.mit.edu	37	17	34105972	34105972	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:34105972G>C	uc002hjy.1	-	2	558	c.299C>G	c.(298-300)gCg>gGg	p.A100G	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Missense_Mutation_p.A100G	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	100					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A100V(2)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCCCAGGCCGCATAACTGTT	0.567000														45			8		0	0	0.004482	0	0
TTYH1	57348	broad.mit.edu	37	19	54930426	54930426	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:54930426C>T	uc002qfr.3	+	1	373	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TTYH1_uc010yey.2_Missense_Mutation_p.S133L|TTYH1_uc002qfq.3_Missense_Mutation_p.S84L|TTYH1_uc002qft.3_Missense_Mutation_p.S84L|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	84					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AAGATCCCCTCGCCCGGGGGA	0.706000														27			6		0	0	0.001168	0	0
AP3D1	8943	broad.mit.edu	37	19	2115263	2115263	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:2115263G>A	uc002lva.3	-	19	2527	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	AP3D1_uc002luy.3_Silent_p.I677I|AP3D1_uc002luz.3_Silent_p.I768I	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	768					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCAGGGGCGATGTCCTCGT	0.597000														24			4		0	0	0.000248	0	0
MEP1A	4224	broad.mit.edu	37	6	46800981	46800981	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:46800981C>T	uc011dwh.1	+	9	1407	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	MEP1A_uc010jzh.1_Missense_Mutation_p.R439W|MEP1A_uc011dwg.1_Missense_Mutation_p.R161W|MEP1A_uc011dwi.1_Missense_Mutation_p.R339W	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	439	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTGGACAGTCCGGAATTTCTC	0.512000														19			23		0	0	0.004656	0	0
NIPBL	25836	broad.mit.edu	37	5	36995774	36995774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:36995774G>A	uc003jkl.4	+	10	3671	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	NIPBL_uc003jkk.4_Missense_Mutation_p.E1058K|NIPBL_uc003jkm.1_Missense_Mutation_p.E937K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1058					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTCCTGGCAGAAATTGAGTC	0.338000														15			7		0	0	0.006214	0	0
NTSR2	23620	broad.mit.edu	37	2	11802339	11802339	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:11802339G>A	uc002rbq.4	-	1	726	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGTGCCAAGGGGAGCACGAAG	0.647000														87			43		0	0	0.002852	0	0
SAFB	6294	broad.mit.edu	37	19	5667119	5667120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:5667119_5667120GG>AA	uc002mcg.3	+	17	2568_2569	c.2397_2398GG>AA	c.(2395-2400)gggggc>ggAAgc	p.G800S	SAFB_uc002mcf.3_Missense_Mutation_p.G800S|SAFB_uc002mce.4_Missense_Mutation_p.G799S|SAFB_uc010xis.2_Missense_Mutation_p.G731S|SAFB_uc010xit.2_Missense_Mutation_p.G642S|SAFB_uc010xir.2_Missense_Mutation_p.G799S|SAFB_uc010xiu.2_Missense_Mutation_p.G599S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	800	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATGGCTGGGGGGGCTATGGCTC	0.649000														27			9		0	0	0.004672	0	0
MYH2	4620	broad.mit.edu	37	17	10431190	10431190	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10431190C>T	uc010coi.3	-	28	3873	c.3745_splice	c.e28-1	p.G1249_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.G1249_splice|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1249					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCTAGGTTTCCCTATAGAAG	0.403000														29			11		0	0	0.008291	0	0
ABCB11	8647	broad.mit.edu	37	2	169836414	169836414	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:169836414G>A	uc002ueo.1	-	10	1285	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	387					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTGCTGCACGTCCAGTTGCA	0.453000														10			4		0	0	0.000602	0	0
CNGB3	54714	broad.mit.edu	37	8	87679189	87679189	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:87679189C>T	uc003ydx.3	-	5	864	c.816G>A	c.(814-816)caG>caA	p.Q272Q	CNGB3_uc010maj.3_Silent_p.Q134Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	272					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAGTCTGGGCTGGATAAATA	0.418000														19			7		0	0	0.008291	0	0
COASY	80347	broad.mit.edu	37	17	40714459	40714460	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:40714459_40714460CC>TT	uc010cyj.3	+	1	232_233	c.30_31CC>TT	c.(28-33)ccccga>ccTTga	p.R11*	COASY_uc002hzz.3_Intron|COASY_uc002iab.3_Intron|COASY_uc002iad.3_5'UTR|COASY_uc002iac.3_5'UTR|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAGCACAGCCCCGAGGCGCCGT	0.639000														47			15		0	0	0.004672	0	0
ZNF648	127665	broad.mit.edu	37	1	182027208	182027208	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:182027208C>T	uc001goz.3	-	2	146	c.-62_splice	c.e2-1		ZNF648_uc021pfu.1_5'Flank	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCTCAGGATACCTGCAAAAAG	0.478000														32			10		0	0	0.006214	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457350	66457350	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:66457350G>A	uc001ojd.3	-	27	5947	c.5875C>T	c.(5875-5877)Cgg>Tgg	p.R1959W	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1959					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCCCGGGCCTCTATC	0.642000														25			8		0	0	0.004482	0	0
ACSL6	23305	broad.mit.edu	37	5	131329801	131329801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:131329801G>A	uc003kvx.2	-	1	302	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Intron|ACSL6_uc003kvy.2_Missense_Mutation_p.L65F|ACSL6_uc003kvz.2_Intron|ACSL6_uc021ydh.1_Intron|ACSL6_uc010jdo.2_Missense_Mutation_p.L40F|ACSL6_uc003kwa.2_Missense_Mutation_p.L51F|ACSL6_uc003kwc.1_Intron|ACSL6_uc003kwd.1_Missense_Mutation_p.L40F|ACSL6_uc010jdn.2_Missense_Mutation_p.L40F	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	40					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAGGCAAGGATGGCAGCC	0.587000														43			9		0	0	0.008291	0	0
CDHR3	222256	broad.mit.edu	37	7	105672950	105672950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:105672950G>A	uc003vdl.4	+	18	2573	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	CDHR3_uc003vdk.3_3'UTR|CDHR3_uc003vdm.4_Missense_Mutation_p.R809H|CDHR3_uc011klt.2_Missense_Mutation_p.R734H|CDHR3_uc003vdn.3_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	822					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCTGCCCCACGCAGAGTCACT	0.527000														31			11		0	0	0.000978	0	0
KIF24	347240	broad.mit.edu	37	9	34259683	34259683	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:34259683G>A	uc003zua.4	-	9	1656	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIF24_uc010mkb.3_Silent_p.I543I	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	512					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGCATTGCCGATGAAAGAGT	0.488000														60			57		0	0	0.003610	0	0
MAGT1	84061	broad.mit.edu	37	X	77112981	77112981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:77112981G>A	uc004fof.3	-	3	562	c.500C>T	c.(499-501)tCa>tTa	p.S167L	MAGT1_uc004fog.4_Non-coding_Transcript	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	135					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTGGAGCTGAATTCATGTT	0.378000														59			32		0	0	0.003271	0	0
SOX10	6663	broad.mit.edu	37	22	38369508	38369509	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:38369508_38369509CC>TT	uc003aun.1	-	3	1672_1673	c.1394_1395GG>AA	c.(1393-1395)cgg>cAA	p.R465Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.R465Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	465						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCCTTTAGGGCCGGGACAGTGT	0.693000														0			4		0	0	0.004672	0	0
C7orf58	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:120906769C>T	uc003vjq.4	+	19	2987	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	847						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGATCACGTCCCCTAGAGAAT	0.398000														12			7		0	0	0.003080	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476525	140476525	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140476525G>A	uc003lil.3	+	0	2289	c.2151G>A	c.(2149-2151)agG>agA	p.R717R	PCDHB2_uc003lim.1_Silent_p.R378R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	717					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGTGCAGGAGGAGCAGGG	0.682000														69			9		0	0	0.002780	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749811	79749811	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:79749811C>T	uc002bew.1	+	1	1397	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	KIAA1024_uc010unk.1_Missense_Mutation_p.S441L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	441						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAAGAGATCTCATCCCCTGTT	0.478000														22			6		0	0	0.001168	0	0
RECQL5	9400	broad.mit.edu	37	17	73658685	73658685	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:73658685G>A	uc010dgl.3	-	3	854	c.645C>T	c.(643-645)atC>atT	p.I215I	RECQL5_uc010dgk.3_Silent_p.I188I|RECQL5_uc002joz.4_Silent_p.I215I|RECQL5_uc002jpa.4_Silent_p.I215I|RECQL5_uc002jpb.2_Silent_p.I215I	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	215					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGTCTTGAAGATGGCAACTG	0.547000								Other identified genes with known or suspected DNA repair function						165			84		0	0	0.003610	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649911	75649911	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:75649911C>T	uc004ecm.2	+	0	1866	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	530	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAACCAGTTTCCTGAGATACT	0.463000														23			21		0	0	0.001882	0	0
OR4A5	81318	broad.mit.edu	37	11	51412281	51412281	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:51412281C>T	uc001nhi.2	-	0	168	c.115G>A	c.(115-117)Ggg>Agg	p.G39R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCAGGTTCCCCACCACTGTC	0.433000														4			5		0	0	0.000602	0	0
LIPF	8513	broad.mit.edu	37	10	90433396	90433396	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:90433396C>T	uc001kfg.2	+	6	835	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	LIPF_uc001kfh.2_Missense_Mutation_p.L218F|LIPF_uc010qmt.2_Missense_Mutation_p.L251F|LIPF_uc010qmu.2_Missense_Mutation_p.L208F	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	241					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TGATCAATTTCTTGCTACTGA	0.368000														52			21		0	0	0.001523	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499936	90499936	+	Silent	SNP	G	A	A	rs147565798		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:90499936G>A	uc004app.4	+	3	569	c.534G>A	c.(532-534)ggG>ggA	p.G178G	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	178	Pro-rich.					integral to membrane											AGCCGCATGGGAAATGCATGC	0.642000														37			16		0	0	0.004990	0	0
KCNT1	57582	broad.mit.edu	37	9	138657500	138657500	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:138657500G>A	uc011mdq.2	+	12	1305	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	KCNT1_uc011mdr.2_Missense_Mutation_p.E238K|KCNT1_uc010nbf.3_Missense_Mutation_p.E366K|KCNT1_uc004cgo.1_Missense_Mutation_p.E160K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	411						membrane	binding|calcium-activated potassium channel activity	p.E411K(2)|p.T410M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTGCCCCACGGAGATGGATGT	0.662000														9			4		0	0	0.000248	0	0
JPH3	57338	broad.mit.edu	37	16	87678398	87678398	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:87678398C>T	uc002fkd.3	+	1	1171	c.917C>T	c.(916-918)tCg>tTg	p.S306L	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	306					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCCAGCGCTCGGACGGGCTC	0.657000														30			9		0	0	0.006214	0	0
ADARB1	104	broad.mit.edu	37	21	46596523	46596523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:46596523C>T	uc002zgy.2	+	3	1342	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Nonsense_Mutation_p.Q303*|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Nonsense_Mutation_p.Q303*|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Nonsense_Mutation_p.Q303*|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Nonsense_Mutation_p.Q352*	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	303					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GCACTTGGATCAGACGCCATC	0.547000														57			13		0	0	0.001855	0	0
RRP12	23223	broad.mit.edu	37	10	99126525	99126525	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:99126525C>T	uc001knf.3	-	26	3328	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E	RRP12_uc001kne.3_Silent_p.E78E|RRP12_uc009xvl.3_Silent_p.E180E|RRP12_uc009xvm.3_Silent_p.E781E|RRP12_uc010qou.2_Silent_p.E1002E|RRP12_uc009xvn.3_Silent_p.E963E	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1063	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGCGGGctcctcctcctcct	0.662000														66			29		0	0	0.008361	0	0
ZNF81	347344	broad.mit.edu	37	X	47775073	47775073	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:47775073C>T	uc022bvq.1	+	4	1277	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF81_uc010nhy.2_Missense_Mutation_p.S343L	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATCCAGAATTCAGAATTAATT	0.358000														11			4		0	0	0.000602	0	0
CAPNS1	826	broad.mit.edu	37	19	36637136	36637136	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:36637136C>T	uc002odi.1	+	8	800	c.643C>T	c.(643-645)Cga>Tga	p.R215*	CAPNS1_uc002odk.3_Nonsense_Mutation_p.R215*|CAPNS1_uc002odj.3_Nonsense_Mutation_p.R215*|CAPNS1_uc002odl.3_Nonsense_Mutation_p.R215*	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	215	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATGATCATCCGACGCTACTC	0.527000														92			21		0	0	0.001882	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944209	73944209	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:73944209C>T	uc003uaq.3	+	8	1629	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	GTF2IRD1_uc010lbq.3_Silent_p.I444I|GTF2IRD1_uc003uap.3_Silent_p.I412I|GTF2IRD1_uc003uar.1_Silent_p.I412I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	412						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAGCGGATCCTGGAGGAGC	0.597000														29			20		0	0	0.002780	0	0
TSTD2	158427	broad.mit.edu	37	9	100388231	100388231	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:100388231A>C	uc004axn.3	-	2	702	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	72										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTACATTCAAAACTCCTTTTT	0.373000														18			3		0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158612245	158612245	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:158612245G>A	uc001fst.1	-	32	4892	c.4693C>T	c.(4693-4695)Ctg>Ttg	p.L1565L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1565					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1564Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTCAATCAGGGAGTTCCCC	0.473000														20			18		0	0	0.007413	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657713	72657713	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:72657713G>A	uc003txs.1	-	12	2199	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ttcatttctggaaaccaattt	0.468000														75			50		0	0	0.003610	0	0
NR1H2	7376	broad.mit.edu	37	19	50882384	50882384	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:50882384C>T	uc010enw.3	+	6	1342	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NR1H2_uc002prv.4_Intron|NR1H2_uc002psa.4_Silent_p.F194F	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	291	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGCCTGGTTTCCTGCAGCTGG	0.592000														52			14		0	0	0.003163	0	0
ITGA8	8516	broad.mit.edu	37	10	15639266	15639266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:15639266C>T	uc001ioc.1	-	20	2151	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	ITGA8_uc010qcb.1_Missense_Mutation_p.M702I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	717					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACATTTTCCATCTTGTACT	0.453000														24			7		0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	165984140	165984140	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:165984140C>T	uc002ucx.3	-	18	3885	c.3393_splice	c.e18+1	p.E1131_splice	SCN3A_uc002ucy.3_Splice_Site_p.E1082_splice|SCN3A_uc002ucz.3_Splice_Site_p.E1082_splice|SCN3A_uc002uda.1_Splice_Site_p.E951_splice|SCN3A_uc002udb.1_Splice_Site_p.E951_splice	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1131						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCATTCTTACCTCTTTGCTT	0.343000														15			7		0	0	0.001984	0	0
OR6F1	343169	broad.mit.edu	37	1	247875253	247875253	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:247875253C>T	uc001idj.1	-	0	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATCAGATCCAAGGCATCT	0.488000														33			15		0	0	0.002450	0	0
SPG7	6687	broad.mit.edu	37	16	89614441	89614441	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:89614441C>T	uc002fnj.3	+	11	1604	c.1583C>T	c.(1582-1584)gCt>gTt	p.A528V	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	528					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCAATGAGGCTGCGCTGCAC	0.637000														75			36		0	0	0.002222	0	0
TRPM5	29850	broad.mit.edu	37	11	2437152	2437152	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:2437152C>T	uc010qxl.2	-	7	1121	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E	TRPM5_uc001lwm.4_Missense_Mutation_p.G371E|TRPM5_uc009ydn.3_Missense_Mutation_p.G373E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	371						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCCACGTCCCCATTGAAGAT	0.642000														87			68		0	0	0.003610	0	0
MEOX2	4223	broad.mit.edu	37	7	15652164	15652164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:15652164G>A	uc003stc.3	-	2	1044	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	255					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R255R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCTTTTCCCGAGCCGCAGCT	0.512000														45			35		0	0	0.003755	0	0
EYA4	2070	broad.mit.edu	37	6	133844294	133844294	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:133844294A>C	uc011ecs.2	+	17	2051	c.1735A>C	c.(1735-1737)Att>Ctt	p.I579L	EYA4_uc011ecq.2_Missense_Mutation_p.I519L|EYA4_uc011ecr.2_Missense_Mutation_p.I525L|EYA4_uc003qec.4_Missense_Mutation_p.I573L|EYA4_uc003qed.4_Missense_Mutation_p.I573L|EYA4_uc003qee.4_Missense_Mutation_p.I550L|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	573					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATTGAGAATATTTACAGTGC	0.388000														13			8		0	0	0.004482	0	0
ZNF32	7580	broad.mit.edu	37	10	44139841	44139841	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:44139841G>A	uc001jbb.3	-	2	668	c.479C>T	c.(478-480)cCc>cTc	p.P160L	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.P160L	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		ACACTCGTAGGGTTTCTGTCC	0.498000														32			9		0	0	0.006214	0	0
RAB34	83871	broad.mit.edu	37	17	27042098	27042098	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27042098C>T	uc010was.1	-	8	728	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	RAB34_uc002hce.2_Missense_Mutation_p.V186M|RAB34_uc002hcg.2_Missense_Mutation_p.V178M|RAB34_uc010wat.1_Missense_Mutation_p.V235M|RAB34_uc002hch.2_Missense_Mutation_p.V186M|RAB34_uc010wau.1_Missense_Mutation_p.V164M|RAB34_uc010wav.1_Missense_Mutation_p.V244M	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	186					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGGGCCACCTGGAGGGCG	0.602000														40			10		0	0	0.000978	0	0
C1orf65	164127	broad.mit.edu	37	1	223567284	223567284	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:223567284C>T	uc001hoa.2	+	0	570	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	156										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGGCACTCCCCTGAGTGGC	0.677000														20			13		0	0	0.001368	0	0
TELO2	9894	broad.mit.edu	37	16	1544321	1544322	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:1544321_1544322GG>AA	uc002cly.3	+	1	330_331	c.39_40GG>AA	c.(37-42)cgggaa>cgAAaa	p.E14K	TELO2_uc010uvg.1_Missense_Mutation_p.E14K	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	14						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCGCCGTCCGGGAAGCCATTCA	0.619000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			15		0	0	0.004672	0	0
LSM14B	149986	broad.mit.edu	37	20	60705702	60705702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:60705702C>T	uc010gjy.1	+	5	996	c.790C>T	c.(790-792)Cga>Tga	p.R264*	LSM14B_uc010gjx.1_Nonsense_Mutation_p.R290*|LSM14B_uc010gjz.1_Nonsense_Mutation_p.R220*|LSM14B_uc010zzz.1_Nonsense_Mutation_p.R184*	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	264	DFDF.				multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGTTCAACCGAGAGGAGCT	0.403000														26			14		0	0	0.003163	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278375	7278375	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:7278375C>T	uc003srb.2	+	2	933	c.710C>T	c.(709-711)tCc>tTc	p.S237F	C1GALT1_uc003sra.3_Missense_Mutation_p.S237F|C1GALT1_uc010kto.2_Missense_Mutation_p.S237F	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	237					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CATAGTTCCTCCATTGAAGAC	0.403000														26			9		0	0	0.004482	0	0
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:32037579C>T	uc003nzl.2	-	14	5540	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1862	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E1867K(1)|p.E1780K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCTCCTCCCCCAGACGG	0.577000														139			207		0	0	0.003610	0	0
CELF3	11189	broad.mit.edu	37	1	151678358	151678358	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:151678358C>G	uc001eys.2	-	10	2004	c.1210G>C	c.(1210-1212)Ggc>Cgc	p.G404R	CELF3_uc010pdh.2_Missense_Mutation_p.G190R|CELF3_uc021oyt.1_Missense_Mutation_p.G357R|CELF3_uc009wmy.3_Missense_Mutation_p.G354R|CELF3_uc001eyr.3_Missense_Mutation_p.G403R|CELF3_uc009wmx.2_Missense_Mutation_p.G403R	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	404	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ATGACGTGGCCAAAGGGGACA	0.483000														58			24		0	0	0.002780	0	0
MYOM2	9172	broad.mit.edu	37	8	2054304	2054304	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:2054304C>T	uc003wpx.4	+	22	3053	c.2915C>T	c.(2914-2916)cCg>cTg	p.P972L	MYOM2_uc011kwi.2_Missense_Mutation_p.P397L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	972	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTAAAGAATCCGGATAAGGAG	0.408000														33			6		0	0	0.001168	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108003	17108003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:17108003G>A	uc002nfb.3	-	10	1186	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	338						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.P385S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCTGCACGGGGGTGGAGTC	0.647000														15			9		0	0	0.006214	0	0
RELN	5649	broad.mit.edu	37	7	103126753	103126753	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:103126753C>T	uc022ajr.1	-	60	10034	c.9874G>A	c.(9874-9876)Gga>Aga	p.G3292R	RELN_uc022ajq.1_Missense_Mutation_p.G3292R|RELN_uc010liz.3_Missense_Mutation_p.G3292R|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCACTTCCTATGACTCCA	0.507000														32			19		0	0	0.008871	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20212370	20212370	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:20212370C>T	uc004czu.3	-	5	423	c.423G>A	c.(421-423)ggG>ggA	p.G141G	RPS6KA3_uc011mjk.2_Silent_p.G112G|RPS6KA3_uc004czv.3_Silent_p.G129G|RPS6KA3_uc011mjl.2_Silent_p.G113G|RPS6KA3_uc011mjm.2_Silent_p.G113G	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	141	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATACAACTTCCCTTCAGTTT	0.279000														14			5		0	0	0.001168	0	0
IRS1	3667	broad.mit.edu	37	2	227661607	227661607	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227661607G>A	uc021vxn.1	-	0	1848	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	IRS1_uc002voh.4_Silent_p.S616S	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	616					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCACCCCTGGGGACATGGGCA	0.632000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			7		0	0	0.001984	0	0
TAF1A	9015	broad.mit.edu	37	1	222750981	222750981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222750981G>A	uc009xdz.2	-	4	619	c.410C>T	c.(409-411)tCc>tTc	p.S137F	TAF1A_uc001hni.2_Missense_Mutation_p.S23F|TAF1A_uc001hnj.3_Missense_Mutation_p.S137F|TAF1A_uc010pur.2_Missense_Mutation_p.S137F	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	137					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATGTTGTAAGGAGATCTGCAA	0.378000														245			118		0	0	0.003610	0	0
FAM177B	400823	broad.mit.edu	37	1	222920396	222920396	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222920396G>A	uc001hnt.3	+	3	480	c.214G>A	c.(214-216)Gga>Aga	p.G72R	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	72										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ATTTTGGGCAGGACGAATAGC	0.388000														30			15		0	0	0.007413	0	0
CCDC125	202243	broad.mit.edu	37	5	68590651	68590651	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:68590651G>A	uc003jvv.1	-	7	933	c.893C>T	c.(892-894)aCt>aTt	p.T298I	CCDC125_uc003jvx.1_Missense_Mutation_p.T297I|CCDC125_uc003jvy.1_Non-coding_Transcript|CCDC125_uc003jvw.2_Missense_Mutation_p.T173I	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	298						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CAGTTTCCGAGTGGATGCTGC	0.453000														117			40		0	0	0.003610	0	0
ZNF704	619279	broad.mit.edu	37	8	81599523	81599523	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:81599523C>A	uc003yby.2	-	3	728	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	166						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGTCGATGCCGTCGTCTGGC	0.657000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			11		2.61681e-11	5.12706e-11	0.002450	1	0
PHLDB2	90102	broad.mit.edu	37	3	111658337	111658337	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:111658337G>A	uc010hqa.3	+	6	2557	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D700N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D673N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D716N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D673N|PHLDB2_uc003dyi.3_Missense_Mutation_p.D302N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	716						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACCTGTTGGATGTTGAAAG	0.413000														21			5		0	0	0.000602	0	0
PTPN21	11099	broad.mit.edu	37	14	88946268	88946268	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:88946268G>A	uc001xwv.4	-	12	1838	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	PTPN21_uc010twc.2_Missense_Mutation_p.P299S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	503						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGCGAGGGGAGCTGTGCG	0.701000														30			9		0	0	0.006214	0	0
CCDC27	148870	broad.mit.edu	37	1	3669219	3669219	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:3669219G>A	uc001akv.2	+	0	255	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	58										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCACAGTTCGATGTCCAGCT	0.602000														53			10		0	0	0.006214	0	0
OTOF	9381	broad.mit.edu	37	2	26699830	26699830	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:26699830C>T	uc002rhk.3	-	21	2732	c.2605G>A	c.(2605-2607)Gac>Aac	p.D869N	OTOF_uc002rhh.3_Missense_Mutation_p.D122N|OTOF_uc002rhi.3_Missense_Mutation_p.D179N|OTOF_uc002rhj.3_Missense_Mutation_p.D122N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	869					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGCAGGTCCTTGGAGGGC	0.612000														22			4		0	0	0.000248	0	0
IL27RA	9466	broad.mit.edu	37	19	14142700	14142700	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:14142700G>A	uc002mxx.3	+	0	439	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	6					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGAGGCAGGGGCGCCCCTTT	0.721000														9			5		0	0	0.000602	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				41			43		0	0	0.003610	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455038	187455038	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:187455038G>A	uc003izd.1	-	1	876	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	286					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGCTGTTGAAATACGCCA	0.507000														52			17		0	0	0.007413	0	0
C1orf177	163747	broad.mit.edu	37	1	55279566	55279566	+	Missense_Mutation	SNP	T	G	G	rs142853163		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:55279566T>G	uc001cyb.4	+	6	896	c.842T>G	c.(841-843)gTt>gGt	p.V281G	C1orf177_uc001cya.4_Missense_Mutation_p.V281G	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	281										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAGCATGGGGTTTTTTCTAAA	0.443000														68			13		0	0	0.001855	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884185	228884185	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:228884185G>A	uc002vpq.2	-	6	1432	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A462V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A462V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	462						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCTGTGGGGCAGCATCACT	0.522000														45			7		0	0	0.001984	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481400	140481400	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140481400C>T	uc003lio.3	+	0	1167	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	389	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACAATCTCCCCTTCTTCC	0.463000														26			10		0	0	0.006214	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941107	47941108	+	Splice_Site	DNP	TT	CC	CC			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:47941107_47941108TT>CC	uc010ele.3	-	6	2026	c.2010_splice	c.e6+1	p.K670_splice	SLC8A2_uc002pgx.3_Splice_Site_p.K670_splice|SLC8A2_uc010xyq.2_Splice_Site_p.K426_splice|SLC8A2_uc010xyr.2_Splice_Site_p.K133_splice			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	670					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GAAAATCACCTTAAAATCATAT	0.569000														51			14		0	0	0.004672	0	0
DSG1	1828	broad.mit.edu	37	18	28919979	28919979	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:28919979G>A	uc002kwp.3	+	10	1890	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	560					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGGATTCTTGGTCTTAGGATG	0.393000														19			6		0	0	0.001984	0	0
INSL6	11172	broad.mit.edu	37	9	5185341	5185341	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:5185341G>A	uc003zix.3	-	0	278	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	88						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCCGGGCCGGGGAAGCGGTT	0.522000														89			27		0	0	0.002836	0	0
P2RX5	5026	broad.mit.edu	37	17	3593971	3593971	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:3593971C>T	uc002fwi.3	-	3	763	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.E62K|P2RX5_uc002fwk.3_Missense_Mutation_p.E122K|P2RX5_uc002fwj.3_Missense_Mutation_p.E98K|P2RX5_uc002fwl.3_Missense_Mutation_p.E98K|P2RX5_uc002fwm.2_Missense_Mutation_p.E122K	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	122					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGAATGCCTTCATTCTGCCAG	0.637000														32			9		0	0	0.006214	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460052	107460052	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:107460052C>T	uc002tdq.3	-	1	501	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ST6GAL2_uc002tdr.3_Missense_Mutation_p.D128N|ST6GAL2_uc002tds.3_Missense_Mutation_p.D128N	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	128					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.D128N(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTCGTCATCCTCCGGGTAG	0.552000														108			26		0	0	0.004656	0	0
SNTG2	54221	broad.mit.edu	37	2	1133330	1133330	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:1133330C>T	uc002qwq.3	+	4	477	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	116	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.F116F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGATGTTGTTCGTAGGAGATG	0.378000														13			13		0	0	0.003163	0	0
SLIT2	9353	broad.mit.edu	37	4	20591305	20591305	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:20591305G>A	uc003gpr.1	+	29	3331	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	SLIT2_uc003gps.1_Missense_Mutation_p.D1035N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1043	EGF-like 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGTGCCCAGGACCTGAACCC	0.507000														35			7		0	0	0.003080	0	0
TRAF2	7186	broad.mit.edu	37	9	139820223	139820223	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:139820223C>T	uc004cjv.3	+	10	1433	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L	TRAF2_uc010nbu.3_Missense_Mutation_p.P459L|TRAF2_uc011mek.2_Missense_Mutation_p.P448L|TRAF2_uc010nbw.3_Missense_Mutation_p.P434L	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	459	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TTTCAGAGGCCAGTCAACGAC	0.557000														17			19		0	0	0.006122	0	0
METTL19	152992	broad.mit.edu	37	4	8472856	8472856	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:8472856C>T	uc003glg.2	+	9	1991	c.1973C>T	c.(1972-1974)aCc>aTc	p.T658I	METTL19_uc003glh.1_Missense_Mutation_p.T266I|METTL19_uc003gli.1_5'Flank	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	658					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GACACGGAGACCCTGCGGAGG	0.572000														64			43		0	0	0.002522	0	0
TMTC3	160418	broad.mit.edu	37	12	88547269	88547269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:88547269C>T	uc001tau.3	+	2	611	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	131						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGCAGTGCACCCAATACATAC	0.313000														8			11		0	0	0.000978	0	0
WDR25	79446	broad.mit.edu	37	14	100934432	100934432	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:100934432G>A	uc010avx.3	+	2	990	c.897G>A	c.(895-897)cgG>cgA	p.R299R	WDR25_uc001yhn.3_Silent_p.R299R|WDR25_uc010avy.3_Intron|WDR25_uc001yho.3_Silent_p.R42R	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	299										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GGGCCGCCCGGTGGGCTCCCT	0.627000														80			24		0	0	0.005443	0	0
SLC36A3	285641	broad.mit.edu	37	5	150663628	150663628	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:150663628G>A	uc003ltx.2	-	8	1493	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	SLC36A3_uc003ltv.2_Silent_p.I302I|SLC36A3_uc003ltw.2_Silent_p.I317I	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTGAGGGTGATGCTGGCCT	0.502000														31			24		0	0	0.005443	0	0
ZNF79	7633	broad.mit.edu	37	9	130206524	130206524	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:130206524C>T	uc004bqw.4	+	4	959	c.545C>T	c.(544-546)tCg>tTg	p.S182L	ZNF79_uc011maf.2_Missense_Mutation_p.S158L|ZNF79_uc011mag.2_Missense_Mutation_p.S158L	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TTCAAGAACTCGGAAATCCTG	0.488000														13			29		0	0	0.007291	0	0
DIS3L	115752	broad.mit.edu	37	15	66624337	66624337	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:66624337G>A	uc010ujm.2	+	14	2675	c.2660G>A	c.(2659-2661)gGt>gAt	p.G887D	DIS3L_uc002app.3_Missense_Mutation_p.G804D|DIS3L_uc010bho.3_Missense_Mutation_p.G753D	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	887					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACAAATGGTGTGCTTCTA	0.363000														78			16		0	0	0.001523	0	0
PMPCA	23203	broad.mit.edu	37	9	139313549	139313549	+	Silent	SNP	C	T	T	rs148017285	byFrequency	TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:139313549C>T	uc004chl.3	+	10	1259	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PMPCA_uc011mdz.2_Silent_p.T287T|PMPCA_uc010nbl.3_Silent_p.T318T|PMPCA_uc004chm.1_Silent_p.T168T|PMPCA_uc004chn.1_Silent_p.T15T	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	418					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGGCGGAACCGTGGACACGG	0.557000														27			24		0	0	0.003954	0	0
STK17B	9262	broad.mit.edu	37	2	197021346	197021346	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:197021346A>G	uc002utk.3	-	2	476	c.152T>C	c.(151-153)aTa>aCa	p.I51T	STK17B_uc010fsh.3_Missense_Mutation_p.I51T	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	51	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AGATTTTGATATACATTGTCT	0.353000														26			6		0	0	0.001984	0	0
CCDC11	220136	broad.mit.edu	37	18	47778002	47778002	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:47778002C>T	uc002lee.2	-	3	717	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	209								p.R209R(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTTGGCTAATCGGTCTTCCTC	0.527000														75			55		0	0	0.003610	0	0
FLJ43860	389690	broad.mit.edu	37	8	142458032	142458032	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:142458032C>T	uc003ywi.2	-	21	2872	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	932							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACGGCCGCCTCCTGGGCCTGC	0.647000														13			5		0	0	0.001168	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:108868931C>T	uc010ywo.2	+	1	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000														8			4		0	0	0.000602	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954507	35954507	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:35954507C>T	uc003jjv.2	-	6	1562	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	457						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGATCCAGCCCACCAGCCGC	0.607000														18			6		0	0	0.001168	0	0
CLC	1178	broad.mit.edu	37	19	40222086	40222086	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:40222086C>T	uc002omh.3	-	3	440	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	121	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.A120S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GCACCATCTTCACAGCCTCAG	0.408000														51			8		0	0	0.003080	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097898	78097898	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:78097898G>A	uc001dhq.3	-	4	1618	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.S381L|ZZZ3_uc001dhp.3_Missense_Mutation_p.S381L	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCTTCGTGGTGAGGTTCTCAG	0.438000														15			10		0	0	0.001368	0	0
SCAND3	114821	broad.mit.edu	37	6	28547172	28547172	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:28547172C>T	uc003nlo.3	-	1	1063	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	149					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATAGAAACTTCCTGCCCATAT	0.413000														18			26		0	0	0.003954	0	0
PSG2	5670	broad.mit.edu	37	19	43585315	43585315	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:43585315C>T	uc002ovr.3	-	1	320	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	50	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.D50V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGAAGAACATCCTTCCCCTCG	0.473000														74			13		0	0	0.002780	0	0
MARCH2	51257	broad.mit.edu	37	19	8491579	8491579	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8491579C>T	uc002mjv.3	+	3	704	c.263C>T	c.(262-264)gCc>gTc	p.A88V	MARCH2_uc002mjw.3_Missense_Mutation_p.A88V|MARCH2_uc002mjx.3_Missense_Mutation_p.A88V	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	88					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ACGCTGGGTGCCGTGCATAAG	0.597000														24			4		0	0	0.000248	0	0
SCN10A	6336	broad.mit.edu	37	3	38793930	38793930	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:38793930C>T	uc003ciq.3	-	10	1535	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGATATCTCGGCCAGGGGA	0.587000														14			17		0	0	0.004007	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114543	6114543	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:6114543G>A	uc010idb.1	-	1	521	c.35C>T	c.(34-36)cCc>cTc	p.P12L	JAKMIP1_uc010idc.1_Missense_Mutation_p.P12L|JAKMIP1_uc010idd.1_Missense_Mutation_p.P12L|JAKMIP1_uc003giu.4_Missense_Mutation_p.P12L|JAKMIP1_uc011bwc.2_Missense_Mutation_p.P12L|JAKMIP1_uc003giv.4_Missense_Mutation_p.P12L|JAKMIP1_uc010ide.3_Missense_Mutation_p.P12L	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	12	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCATCTCGGGCTTCTCGCC	0.612000														25			9		0	0	0.006214	0	0
NLRX1	79671	broad.mit.edu	37	11	119050970	119050970	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:119050970C>T	uc001pvu.3	+	6	2455	c.2240C>T	c.(2239-2241)cCt>cTt	p.P747L	NLRX1_uc010rzc.1_Missense_Mutation_p.P569L|NLRX1_uc001pvv.3_Missense_Mutation_p.P747L|NLRX1_uc001pvw.3_Missense_Mutation_p.P747L|NLRX1_uc001pvx.3_Missense_Mutation_p.P747L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	747	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACACTCCTGCCTGTCTTCCTG	0.597000														13			11		0	0	0.000978	0	0
TMC2	117532	broad.mit.edu	37	20	2542553	2542553	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:2542553G>A	uc002wgf.1	+	3	466	c.451G>A	c.(451-453)Gag>Aag	p.E151K	TMC2_uc002wgg.1_Missense_Mutation_p.E135K|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	151	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane		p.E150D(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGTCCGAGGAGGAACTGGC	0.607000														56			28		0	0	0.002096	0	0
VPS13B	157680	broad.mit.edu	37	8	100789096	100789096	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:100789096C>T	uc003yiv.3	+	40	7527	c.7416C>T	c.(7414-7416)acC>acT	p.T2472T	VPS13B_uc003yiw.3_Silent_p.T2447T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2472					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGCTTTACCCCATGGTTTG	0.488000														26			7		0	0	0.001984	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687812	27687812	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:27687812G>A	uc001itu.2	-	3	1833	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	572					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCTGGGACAGAACCAAATGG	0.408000														12			3		0	0	0.004672	0	0
COL4A4	1286	broad.mit.edu	37	2	227958912	227958912	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227958912C>T	uc021vxr.1	-	18	1399	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	COL4A4_uc021vxs.1_Missense_Mutation_p.G433E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	433	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGGTTTTCCTGGAGCAGA	0.552000														14			10		0	0	0.008291	0	0
SV2A	9900	broad.mit.edu	37	1	149877521	149877521	+	Silent	SNP	G	A	A	rs138258149		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:149877521G>A	uc001etg.3	-	11	2447	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SV2A_uc009wlk.3_Silent_p.I104I|SV2A_uc001eth.2_Silent_p.I652I	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	652					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.I652I(6)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCAGAGCGATCATGGCCG	0.542000														85			35		0	0	0.003271	0	0
ZNF17	7565	broad.mit.edu	37	19	57931243	57931243	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:57931243G>C	uc002qop.1	+	3	655	c.389G>C	c.(388-390)aGt>aCt	p.S130T	ZNF17_uc021vck.1_Missense_Mutation_p.S121T|ZNF17_uc002qoo.1_Missense_Mutation_p.S128T	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CTCACCAGAAGTGATGAAGGG	0.498000														33			8		0	0	0.003080	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432591	140432591	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140432591G>A	uc003lik.1	+	0	1613	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	512	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCAATGGGAAGCTCTACG	0.428000														22			19		0	0	0.008871	0	0
ARIH2	10425	broad.mit.edu	37	3	49002366	49002366	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:49002366C>T	uc003cvb.3	+	4	650	c.338C>T	c.(337-339)tCt>tTt	p.S113F	ARIH2_uc003cvc.3_Missense_Mutation_p.S113F|ARIH2_uc003cvf.3_Missense_Mutation_p.S31F|ARIH2_uc010hkl.3_Missense_Mutation_p.S113F	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	113					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AAGTCCAATTCTGCTCAACTG	0.388000														36			6		0	0	0.001168	0	0
MN1	4330	broad.mit.edu	37	22	28192913	28192913	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:28192913C>T	uc003adj.3	-	0	4574	c.3619G>A	c.(3619-3621)Gtc>Atc	p.V1207I		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1207							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGCTCTTGACCGCCTCGGAG	0.672000			T	ETV6	"""AML, meningioma"""									28			4		0	0	0.000248	0	0
MGAM	8972	broad.mit.edu	37	7	141731504	141731504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:141731504C>T	uc003vwy.3	+	12	1549	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	499	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACTGTGTTTCCTGATTATAC	0.363000														31			13		0	0	0.004990	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058138	152058138	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:152058138C>A	uc001ezo.1	-	2	2085	c.2020G>T	c.(2020-2022)Ggt>Tgt	p.G674C		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	674							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCAGGGCACCTGTGATCTCT	0.502000														77			76		7.2426e-40	1.42548e-39	0.003610	1	0
OR4N3P	390539	broad.mit.edu	37	15	22414138	22414138	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:22414138G>A	uc001yuf.3	+	0	677	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGTCGCATACGAGCGTCTTCT	0.463000														36			10		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140307492G>A	uc003lih.2	+	0	1191	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E339K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	364	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E339K(1)		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)			TCATGCCCCCGAACTGGACTT	0.522000														82			16		0	0	0.004990	0	0
GALNT6	11226	broad.mit.edu	37	12	51759262	51759262	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:51759262C>T	uc001ryk.2	-	3	991	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.G256R	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	256	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGCTGGCCCCCAGCAGCCGG	0.662000														26			26		0	0	0.006320	0	0
DUSP1	1843	broad.mit.edu	37	5	172197251	172197251	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:172197251G>A	uc003mbv.2	-	1	674	c.426C>T	c.(424-426)ccC>ccT	p.P142P	DUSP1_uc003mbu.2_Silent_p.P30P	NM_004417	NP_004408	P28562	DUS1_HUMAN	Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA.	142					cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TGAGCCCCATGGGGGTCGACT	0.552000														10			4		0	0	0.000248	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670558	55670558	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:55670558C>T	uc002qjl.1	-	11	1701	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Missense_Mutation_p.G315R|DNAAF3_uc002qji.1_Missense_Mutation_p.G500R|DNAAF3_uc002qjj.1_Missense_Mutation_p.G547R|DNAAF3_uc002qjk.1_Missense_Mutation_p.G446R	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	500																	TGTGGGGTCCCACCCTGCAGA	0.657000														19			7		0	0	0.003080	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030446	10030446	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:10030446C>T	uc002wno.3	+	6	1622	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.S410L|ANKRD5_uc010gbz.3_Missense_Mutation_p.S221L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	410							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GTCTTAGGATCGTATGGACCT	0.408000														14			10		0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55537893	55537893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:55537893C>T	uc003xsd.1	+	3	1599	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	484					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAGTTTTCATATAGTGAA	0.373000														27			5		0	0	0.000602	0	0
NDST3	9348	broad.mit.edu	37	4	119174728	119174728	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:119174728G>A	uc003ibx.3	+	12	2877	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	825	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGAGCAAAGGAAGAAAATAC	0.318000														49			26		0	0	0.001786	0	0
CSMD3	114788	broad.mit.edu	37	8	113988232	113988232	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:113988232C>T	uc003ynu.3	-	6	1335	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CSMD3_uc003ynt.3_Silent_p.E352E|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	392						integral to membrane|plasma membrane		p.E392K(1)		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						CTCGCTGTTCCTCGGAAAGTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				25			14		0	0	0.002450	0	0
NRAP	4892	broad.mit.edu	37	10	115401183	115401183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:115401183C>T	uc001lal.3	-	12	1428	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	NRAP_uc001laj.3_Missense_Mutation_p.G422R|NRAP_uc001lak.3_Missense_Mutation_p.G387R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	422						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATACCAACTCCTTCATAGCGG	0.463000														20			8		0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13839615	13839615	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:13839615G>A	uc003jfd.2	-	34	5774	c.5732C>T	c.(5731-5733)cCc>cTc	p.P1911L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1911	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTCCATGGGACTCTTGAT	0.358000									Kartagener syndrome					16			3		0	0	0.004672	0	0
ZNF608	57507	broad.mit.edu	37	5	123977034	123977034	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:123977034G>A	uc003ktq.1	-	6	4544	c.4361C>T	c.(4360-4362)cCc>cTc	p.P1454L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.P149L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1454						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGCCGAAGGGGGAGTGGCG	0.572000														54			13		0	0	0.001368	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862319	11862319	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:11862319G>A	uc002dbk.3	-	10	1410	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	ZC3H7A_uc002dbj.3_5'Flank|ZC3H7A_uc002dbl.3_Silent_p.F404F|ZC3H7A_uc002dbm.2_Silent_p.F314F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	404						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATTCCCAGGAAATTCTCTG	0.368000														40			15		0	0	0.003163	0	0
GK2	2712	broad.mit.edu	37	4	80328679	80328679	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:80328679G>A	uc003hlu.3	-	0	694	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	226					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.P226S(2)|p.P226L(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGGTCCATTGGAATTTCAAAA	0.408000														19			8		0	0	0.003080	0	0
KRT72	140807	broad.mit.edu	37	12	52981604	52981604	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52981604G>A	uc001sar.2	-	6	1207	c.1121C>T	c.(1120-1122)gCt>gTt	p.A374V	KRT72_uc001saq.2_Missense_Mutation_p.A374V|KRT72_uc010sns.1_Missense_Mutation_p.A332V|KRT72_uc010snt.1_Missense_Mutation_p.A186V	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	374	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCGCTGTTCAGCGTCGGCGAT	0.627000														15			5		0	0	0.001168	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140743318	140743318	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:140743318C>T	uc003yvh.2	-	22	3742	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	TRAPPC9_uc003yvj.2_Missense_Mutation_p.E1145K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	1145					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCCTGCGCCTCCAGGGCACAC	0.642000														20			10		0	0	0.006214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175871	207175871	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:207175871G>A	uc002vbp.2	+	4	6869	c.6619G>A	c.(6619-6621)Gct>Act	p.A2207T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2207							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCCAGAAAAGCTTCAGAGAA	0.338000														14			5		0	0	0.000602	0	0
PC	5091	broad.mit.edu	37	11	66633742	66633742	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:66633742G>A	uc001ojn.1	-	8	1150	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	PC_uc001ojo.1_Silent_p.I367I|PC_uc001ojp.1_Silent_p.I367I	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	367	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGTTGATGCGGATGTTCTCCT	0.682000														18			18		0	0	0.002299	0	0
LRP5	4041	broad.mit.edu	37	11	68174156	68174156	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:68174156C>T	uc001ont.3	+	8	2041	c.1966C>T	c.(1966-1968)Cac>Tac	p.H656Y	LRP5_uc009ysg.3_Missense_Mutation_p.H66Y	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	656	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCGCCATCCACAGGATCTC	0.597000														15			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9074139	9074139	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:9074139G>A	uc002mkp.3	-	2	13511	c.13307C>T	c.(13306-13308)cCc>cTc	p.P4436L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4438	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACATCCTTGGGACCTTTGCT	0.498000														41			16		0	0	0.003163	0	0
ABCA9	10350	broad.mit.edu	37	17	66985995	66985995	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:66985995T>C	uc002jhu.3	-	29	4057	c.3914A>G	c.(3913-3915)aAa>aGa	p.K1305R	ABCA9_uc010dez.3_Missense_Mutation_p.K1267R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1305	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGCAATTTTTTTCTTCCTTTT	0.353000														12			11		0	0	0.001368	0	0
GDF2	2658	broad.mit.edu	37	10	48416352	48416352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:48416352C>T	uc001jfa.1	-	0	502	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	114					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTACCTTCCATGCTGAAGC	0.602000														19			6		0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160313	160313	+	RNA	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrGL000192.1:160313G>A	uc010yih.1	-	11		c.2109C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				GTTGCTTGTCGGGGTCCTTTG	0.502000														179			7		0	0	0.003163	0	0
UPP2	151531	broad.mit.edu	37	2	158974375	158974375	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:158974375G>A	uc002tzo.3	+	5	570	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	UPP2_uc002tzp.3_Missense_Mutation_p.E127K	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	127					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TATGCTTCATGAACTCATCAA	0.423000														21			16		0	0	0.004990	0	0
MYH15	22989	broad.mit.edu	37	3	108219035	108219036	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:108219035_108219036CC>TT	uc003dxa.1	-	4	542_543	c.485_486GG>AA	c.(484-486)ggg>gAA	p.G162E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	162	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCGCCTCTTCCCTTTGTAGGC	0.470000														11			7		0	0	0.004672	0	0
LRWD1	222229	broad.mit.edu	37	7	102108811	102108811	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:102108811G>A	uc003uzn.3	+	6	1044	c.906G>A	c.(904-906)ccG>ccA	p.P302P		NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	302					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.P302L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTTCGAGCCGGCCTGGGAGG	0.652000														15			8		0	0	0.008291	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810423	106810423	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:106810423G>A	uc009yxn.1	-	3	1359	c.969C>T	c.(967-969)ttC>ttT	p.F323F	GUCY1A2_uc001pjg.1_Silent_p.F323F|GUCY1A2_uc010rvo.1_Silent_p.F323F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	323					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.T322T(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGCTCTACAGAAGGTGTTGA	0.453000														7			3		0	0	0.004672	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561704	52561704	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52561704G>A	uc003den.3	-	8	1006	c.966C>T	c.(964-966)ccC>ccT	p.P322P	NT5DC2_uc003dem.3_Silent_p.P155P|NT5DC2_uc010hmi.3_Silent_p.P297P|NT5DC2_uc010hmj.3_Silent_p.P101P|NT5DC2_uc003deo.3_Silent_p.P285P	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	285							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCGCCAATCGGGACCCACCA	0.627000														24			6		0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	185987424	185987424	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:185987424C>T	uc001grq.1	+	33	5639	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1804	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCCTTTATCGGTGCATGGC	0.418000														16			10		0	0	0.006214	0	0
GNPAT	8443	broad.mit.edu	37	1	231403528	231403528	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:231403528G>T	uc001hup.4	+	8	1364	c.1158G>T	c.(1156-1158)tgG>tgT	p.W386C	GNPAT_uc009xfp.3_Missense_Mutation_p.W325C	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	386					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGAGCCCCTGGACCCTAATAG	0.453000														62			34		1.45844e-13	2.86396e-13	0.002836	1	0
MMS22L	253714	broad.mit.edu	37	6	97599671	97599671	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:97599671G>A	uc003ppb.3	-	22	3724	c.3458C>T	c.(3457-3459)tCc>tTc	p.S1153F	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.S1113F	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1153					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGCTGGGAGGAAGGTTCTTC	0.428000														37			12		0	0	0.002450	0	0
PHF8	23133	broad.mit.edu	37	X	54020145	54020145	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:54020145C>T	uc004dsu.3	-	12	1869	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	PHF8_uc004dsv.3_Silent_p.E371E|PHF8_uc004dst.3_Silent_p.E505E|PHF8_uc004dsw.3_Intron|PHF8_uc004dsx.3_Silent_p.E269E|PHF8_uc004dsy.3_Silent_p.E505E	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	541					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCCCTTTCGCTCTGCCTTCT	0.517000														49			10		0	0	0.006214	0	0
MGAM	8972	broad.mit.edu	37	7	141760163	141760163	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:141760163G>A	uc003vwy.3	+	33	4166	c.4112G>A	c.(4111-4113)aGc>aAc	p.S1371N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1371	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACTGGGACAGCCAAGTGGAG	0.493000														16			7		0	0	0.004482	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147545	6147545	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:6147545C>T	uc002mef.1	+	2	383	c.156C>T	c.(154-156)acC>acT	p.T52T	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Silent_p.T52T|ACSBG2_uc002meh.1_Silent_p.T52T|ACSBG2_uc002mei.1_Silent_p.T2T|ACSBG2_uc010xiz.1_Silent_p.T52T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	52					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCGATGACCATCCCTGAAT	0.488000														106			23		0	0	0.003330	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789468	1789468	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:1789468G>A	uc002ltw.3	-	22	2971	c.2737C>T	c.(2737-2739)Cgc>Tgc	p.R913C	ATP8B3_uc002ltv.3_Missense_Mutation_p.R876C|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	913					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCACGCGGCAGCAGATG	0.662000														12			5		0	0	0.001168	0	0
CHRM2	1129	broad.mit.edu	37	7	136700910	136700910	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:136700910G>A	uc003vtf.1	+	3	1921	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	CHRM2_uc003vtg.1_Missense_Mutation_p.S433N|CHRM2_uc003vti.1_Missense_Mutation_p.S433N|CHRM2_uc003vtm.1_Missense_Mutation_p.S433N|CHRM2_uc003vtj.1_Missense_Mutation_p.S433N|CHRM2_uc003vtk.1_Missense_Mutation_p.S433N|CHRM2_uc003vtl.1_Missense_Mutation_p.S433N|CHRM2_uc003vtn.1_Missense_Mutation_p.S433N|CHRM2_uc003vto.1_Missense_Mutation_p.S433N|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S433N	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	433					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TACATCAACAGCACTATCAAC	0.453000														19			13		0	0	0.002450	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255331	25255331	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:25255331G>A	uc002dod.4	-	5	2163	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R382W	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	586					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCAGATGCCCGAGAGTTAATC	0.532000														30			13		0	0	0.001855	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282015	52282015	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52282015G>A	uc001rzd.3	+	0	223	c.45G>A	c.(43-45)ggG>ggA	p.G15G	ANKRD33_uc001rzh.4_Silent_p.G15G|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCTGGGGAGGGATAGTCCACC	0.597000														80			17		0	0	0.008871	0	0
CARD6	84674	broad.mit.edu	37	5	40854355	40854355	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:40854355C>T	uc003jmg.3	+	2	2996	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	974	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGACAAAATCCTGTCAGTCC	0.522000														137			20		0	0	0.001523	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905895	164905896	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:164905895_164905896GG>AA	uc003fej.4	-	1	3167_3168	c.2723_2724CC>TT	c.(2722-2724)ccc>cTT	p.P908L	SLITRK3_uc003fek.3_Missense_Mutation_p.P908L|SLITRK3_uc021xgy.1_Missense_Mutation_p.P908L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	908						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTAATTTGGGCACTGTTCC	0.550000										HNSCC(40;0.11)				24			27		0	0	0.004672	0	0
KCNH6	81033	broad.mit.edu	37	17	61601675	61601675	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:61601675G>A	uc002jay.3	+	1	332	c.252G>A	c.(250-252)caG>caA	p.Q84Q	KCNH6_uc002jax.1_Silent_p.Q84Q|KCNH6_uc010wpl.2_Intron|KCNH6_uc010wpm.2_Silent_p.Q84Q|KCNH6_uc002jaz.1_Silent_p.Q84Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	84					regulation of transcription, DNA-dependent|signal transduction			p.A83A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCTAGCGCAGGCCCTGCTGG	0.637000														42			20		0	0	0.002780	0	0
PELI2	57161	broad.mit.edu	37	14	56763440	56763440	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:56763440C>T	uc001xch.3	+	5	1105	c.819C>T	c.(817-819)ctC>ctT	p.L273L		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	273					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TAGAAGCCCTCCGGCAGGAGA	0.587000														23			4		0	0	0.000602	0	0
ABP1	26	broad.mit.edu	37	7	150557656	150557656	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:150557656G>A	uc003why.1	+	4	6142	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	ABP1_uc003whz.1_Missense_Mutation_p.D642N|ABP1_uc003wia.1_Missense_Mutation_p.D661N	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	642					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.D642N(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCACCAGAACGACCCCTGGCA	0.612000														59			30		0	0	0.001786	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995727	140995727	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:140995727C>T	uc004fbt.3	+	3	2861	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S505F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	846							protein binding	p.P847fs*9(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGAGTTCCCCTGAGAGT	0.527000										HNSCC(15;0.026)				81			30		0	0	0.001786	0	0
SLC2A11	66035	broad.mit.edu	37	22	24217412	24217412	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:24217412C>T	uc011ajc.1	+	3	901	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SLC2A11_uc002zyl.1_Silent_p.L137L|SLC2A11_uc002zym.4_Silent_p.L137L|SLC2A11_uc002zyn.4_Silent_p.L130L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L124L|SLC2A11_uc002zyp.4_Silent_p.L133L			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	130						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAAGACTGCTCGTGGGAGTCA	0.448000														34			18		0	0	0.003330	0	0
ADORA1	134	broad.mit.edu	37	1	203134427	203134427	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:203134427C>T	uc010pqh.1	+	2	516	c.479C>T	c.(478-480)gCc>gTc	p.A160V	ADORA1_uc001gzf.1_Missense_Mutation_p.A127V|ADORA1_uc001gze.1_Missense_Mutation_p.A127V|ADORA1_uc010pqg.1_Missense_Mutation_p.A59V|ADORA1_uc009xak.1_Silent_p.G52G	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	127					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCGGCGGTGGCCATAGCCGGC	0.657000														21			16		0	0	0.006122	0	0
LAMA1	284217	broad.mit.edu	37	18	6978348	6978348	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:6978348C>T	uc002knm.3	-	42	6131	c.6037G>A	c.(6037-6039)Gag>Aag	p.E2013K	LAMA1_uc010wzj.2_Missense_Mutation_p.E1489K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2013	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGCCAGCTCTTTGGTTTTG	0.507000														47			27		0	0	0.007291	0	0
TRPC3	7222	broad.mit.edu	37	4	122835986	122835986	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:122835986G>A	uc003ieg.2	-	3	1364	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.A357A|TRPC3_uc011cgl.1_Silent_p.A94A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	345					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGGCCCAGGGCCACGACCA	0.537000														10			8		0	0	0.003080	0	0
MYLK2	85366	broad.mit.edu	37	20	30408346	30408346	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:30408346C>T	uc002wwq.2	+	2	572	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	157					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCATCATCTCCAGGTGAATA	0.582000														24			5		0	0	0.001168	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993591	140993591	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:140993591C>T	uc004fbt.3	+	3	725	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	134							protein binding	p.S134F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCGAGTTCCTTCTTCTCC	0.502000										HNSCC(15;0.026)				51			32		0	0	0.002096	0	0
P2RX5	5026	broad.mit.edu	37	17	3583028	3583028	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:3583028C>T	uc002fwi.3	-	10	1514	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G312E|P2RX5_uc002fwk.3_Missense_Mutation_p.G371E|P2RX5_uc002fwj.3_Missense_Mutation_p.G347E|P2RX5_uc002fwl.3_Missense_Mutation_p.G348E	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	372					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTCAGATAGCCCCAGCCCCGA	0.657000														26			5		0	0	0.001168	0	0
OR52J3	119679	broad.mit.edu	37	11	5068359	5068359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:5068359C>T	uc010qyv.2	+	0	604	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202I(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATCTATGGGCTTTTTGTAGT	0.443000														17			11		0	0	0.008291	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559736	44559736	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:44559736G>A	uc002lcr.1	-	0	2253	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	634	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCCGTTGGGGTTGTTTCCA	0.527000														92			33		0	0	0.003271	0	0
DNAH3	55567	broad.mit.edu	37	16	21122990	21122990	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:21122990G>A	uc010vbe.2	-	13	2056	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	DNAH3_uc002die.2_Silent_p.L626L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	686	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTGAATCAGATGGTCTTTA	0.438000														29			4		0	0	0.000602	0	0
AFF3	3899	broad.mit.edu	37	2	100209873	100209873	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:100209873C>T	uc002taf.3	-	13	2469	c.2325G>A	c.(2323-2325)cgG>cgA	p.R775R	AFF3_uc002tag.3_Silent_p.R750R|AFF3_uc010fiq.1_Silent_p.R750R|AFF3_uc010yvr.1_Silent_p.R903R|AFF3_uc002tah.1_Silent_p.R775R	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	750					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GAAGTTCGTTCCGGCCAAAGG	0.582000														41			13		0	0	0.001855	0	0
CTBS	1486	broad.mit.edu	37	1	85029074	85029075	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:85029074_85029075GG>AA	uc001dka.2	-	5	887_888	c.822_823CC>TT	c.(820-825)gtccct>gtTTct	p.P275S	CTBS_uc001dkc.3_Missense_Mutation_p.P184S|CTBS_uc001dkb.2_Missense_Mutation_p.P69S	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	275						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCCCGGAAAGGGACTTTTGCAA	0.381000														28			4		0	0	0.004672	0	0
NPY5R	4889	broad.mit.edu	37	4	164272599	164272599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:164272599G>A	uc003iqn.3	+	3	1356	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	NPY5R_uc021xtw.1_Missense_Mutation_p.D392N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	392					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTGGTAACTGATTTTAATGA	0.338000														36			23		0	0	0.002780	0	0
SNF8	11267	broad.mit.edu	37	17	47014475	47014475	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47014475A>G	uc002ioj.3	-	3	314	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	SNF8_uc002iok.3_Missense_Mutation_p.F86L	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) (SNF8), mRNA.	86					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						TCAGACCAAAATCCTTTTCCA	0.423000														69			14		0	0	0.004007	0	0
STX2	2054	broad.mit.edu	37	12	131283119	131283119	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:131283119G>A	uc001uio.3	-	8	904	c.737C>T	c.(736-738)gCt>gTt	p.A246V	STX2_uc001uip.3_Missense_Mutation_p.A246V|STX2_uc010tbj.2_Missense_Mutation_p.A246V	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	246	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTCTTCTTTAGCGTGTTCTAC	0.338000														88			24		0	0	0.005443	0	0
CCDC6	8030	broad.mit.edu	37	10	61572503	61572503	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:61572503C>T	uc001jks.4	-	4	969	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	246						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGAGATATCTCTAGGCGATGG	0.408000			T	RET	NSCLC									13			5		0	0	0.000602	0	0
FAM35A	54537	broad.mit.edu	37	10	88911479	88911479	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:88911479G>A	uc001kei.4	+	2	482	c.368G>A	c.(367-369)tGt>tAt	p.C123Y		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	123										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGCAAATATGTGGATTTAAA	0.358000														25			13		0	0	0.001368	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:20521064C>T	uc003gpr.1	+	11	1322	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_uc003gps.1_Missense_Mutation_p.S373F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	373					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000														27			6		0	0	0.001168	0	0
FRS3	10817	broad.mit.edu	37	6	41738653	41738653	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:41738653C>T	uc003orc.1	-	6	1427	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	395					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.G395D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGGGGAGCCGCGGCGGCGG	0.662000														25			48		0	0	0.003610	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808488	38808488	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:38808488C>T	uc001zke.4	-	5	763	c.585G>A	c.(583-585)cgG>cgA	p.R195R	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.R57R|RASGRP1_uc010bbg.3_Silent_p.R57R|RASGRP1_uc001zkd.4_Silent_p.R195R	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	195					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGGAGACTTTCCGTTTCTTGC	0.463000														25			9		0	0	0.004482	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602289	48602289	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:48602289G>A	uc010wmr.2	+	12	1978	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	569					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGTGCTGCAGGAGCTGCTGAT	0.587000														60			10		0	0	0.008291	0	0
MB21D1	115004	broad.mit.edu	37	6	74155279	74155279	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:74155279G>A	uc003pgx.1	-	1	988	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	283										central_nervous_system(1)|large_intestine(4)|lung(1)	6						CTTCCTTAATGATTTTCCTAA	0.308000														17			12		0	0	0.001368	0	0
SSH2	85464	broad.mit.edu	37	17	27994162	27994162	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27994162T>C	uc002heo.1	-	8	808	c.808A>G	c.(808-810)Att>Gtt	p.I270V	SSH2_uc010wbh.1_Missense_Mutation_p.I297V|SSH2_uc002hep.1_Missense_Mutation_p.I270V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	270					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGATGTAATATTCTCCAAA	0.418000														18			11		0	0	0.001368	0	0
FLJ31813	326332	broad.mit.edu	37	10	51814483	51814483	+	Splice_Site	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:51814483A>G	uc001jiz.1	-	4		c.1571_splice	c.e4-1							Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		AGGTAAGGTAACCTTTGTTGG	0.358000														8			5		0	0	0.000978	0	0
LRRC6	23639	broad.mit.edu	37	8	133584655	133584655	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:133584655C>T	uc003ytk.3	-	11	1374	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	LRRC6_uc022bbp.1_Missense_Mutation_p.E434K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	434						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTTTTTTCTCTTGAACTATG	0.423000														60			11		0	0	0.008291	0	0
ADAM33	80332	broad.mit.edu	37	20	3655171	3655171	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:3655171G>A	uc002wit.3	-	5	667	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ADAM33_uc002wir.1_Missense_Mutation_p.P194S|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.P194S|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.P206S|ADAM33_uc010zqh.1_Missense_Mutation_p.P194S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGACCACCAGGAAGGCTGGTC	0.572000														59			17		0	0	0.008871	0	0
RAG1	5896	broad.mit.edu	37	11	36595117	36595117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:36595117C>T	uc021qgb.1	+	0	263	c.263C>T	c.(262-264)tCa>tTa	p.S88L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S88L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	88	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCTAAGTTTTCAAAGAAATTT	0.488000									Familial Hemophagocytic Lymphohistiocytosis					24			21		0	0	0.001523	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307632	136307632	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:136307632C>T	uc004cdv.4	+	16	2525	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P694L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P663L|ADAMTS13_uc004cdw.4_Missense_Mutation_p.P694L|ADAMTS13_uc004cdx.4_Missense_Mutation_p.P663L|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.4_Missense_Mutation_p.P364L|ADAMTS13_uc004cdr.1_Intron|ADAMTS13_uc004cds.1_Missense_Mutation_p.P219L	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	694	TSP type-1 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGCGTGGGCCCTGCTCGGTG	0.667000														31			30		0	0	0.003271	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517766	70517766	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:70517766G>A	uc001xly.3	-	5	2844	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SLC8A3_uc001xlv.3_Missense_Mutation_p.S68F|SLC8A3_uc001xlu.3_Missense_Mutation_p.S54F|SLC8A3_uc001xlw.3_Missense_Mutation_p.S694F|SLC8A3_uc001xlx.3_Missense_Mutation_p.S695F|SLC8A3_uc001xlz.3_Missense_Mutation_p.S691F|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.S54F	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	697					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCCCTCCAGGAATGGGTCCC	0.522000														25			7		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140745253C>T	uc003lju.2	+	0	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F452F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAATTTCCCTCAAGCCT	0.522000														72			40		0	0	0.002852	0	0
DNM2	1785	broad.mit.edu	37	19	10893721	10893721	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:10893721C>T	uc002mpt.2	+	5	964	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.F258F|DNM2_uc010dxl.2_Silent_p.F258F|DNM2_uc002mpu.2_Silent_p.F258F|DNM2_uc002mpv.2_Silent_p.F258F|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	258					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGAGGAAGTTCTTCCTCTCCC	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL									38			9		0	0	0.006214	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875727	75875727	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:75875727G>A	uc001sxs.3	+	1	436	c.288G>A	c.(286-288)ctG>ctA	p.L96L	GLIPR1_uc009zsb.1_Silent_p.L96L	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	96					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACTTCACTGGGAGAGAACA	0.488000														28			24		0	0	0.003330	0	0
SEZ6	124925	broad.mit.edu	37	17	27284987	27284987	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27284987C>T	uc002hdp.2	-	10	2474	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.E760E|SEZ6_uc002hdq.1_Silent_p.E635E	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	760	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGGCAGGTCCTCACTCCAAG	0.562000														19			7		0	0	0.003080	0	0
XKR3	150165	broad.mit.edu	37	22	17288712	17288712	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:17288712G>A	uc002zlv.3	-	1	350	c.252C>T	c.(250-252)atC>atT	p.I84I	XKR3_uc011agf.2_Silent_p.I84I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAACATCAGGATAATTTGAT	0.333000														17			12		0	0	0.001368	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716939	222716939	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222716939C>T	uc001hnh.1	-	1	972	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	305					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCACTAATTCGGATCTTTTC	0.453000														497			248		0	0	0.003610	0	0
BCAT1	586	broad.mit.edu	37	12	25031483	25031484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:25031483_25031484GG>AA	uc001rgd.4	-	4	1017_1018	c.490_491CC>TT	c.(490-492)cct>TTt	p.P164F	BCAT1_uc001rgc.3_Missense_Mutation_p.P163F|BCAT1_uc010six.2_Missense_Mutation_p.P176F|BCAT1_uc010siy.2_Missense_Mutation_p.P127F|BCAT1_uc001rge.4_Missense_Mutation_p.P103F	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	164					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGAATGTAGGACGAATATAC	0.366000														16			3		0	0	0.004672	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319733	77319733	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:77319733G>A	uc001xsx.2	+	8	1102	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	C14orf166B_uc010asn.1_Missense_Mutation_p.E90K|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	330										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATCCAATGAAAGCCTCAG	0.507000														17			6		0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11757400	11757400	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:11757400G>A	uc002gne.3	+	49	9656	c.9588G>A	c.(9586-9588)atG>atA	p.M3196I	DNAH9_uc010coo.3_Missense_Mutation_p.M2490I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3196	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTACTGATGGCTCCCAGGG	0.562000														30			9		0	0	0.004482	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629986	8629986	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:8629986G>A	uc001qum.1	+	5	673	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	186	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAAACCTACAGGATGGGGCTG	0.383000														13			29		0	0	0.005443	0	0
SSH1	54434	broad.mit.edu	37	12	109182779	109182779	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:109182779G>A	uc001tnm.3	-	14	2222	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	SSH1_uc001tnl.3_Missense_Mutation_p.P400L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	712					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGGAACGGGGGAGGTTCGGT	0.657000														57			5		0	0	0.001168	0	0
OR2A12	346525	broad.mit.edu	37	7	143793023	143793023	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143793023C>T	uc011kty.2	+	0	823	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GATCCTTTCCCTGTTTTACAG	0.517000														81			27		0	0	0.002096	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221776	118221776	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:118221776G>A	uc004era.4	-	10	3417	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1139										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGCCCGCTCGAAATTTGAGG	0.473000														37			22		0	0	0.001523	0	0
ATAD2	29028	broad.mit.edu	37	8	124358477	124358477	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:124358477C>T	uc003yqh.4	-	17	2489	c.2381G>A	c.(2380-2382)aGa>aAa	p.R794K	ATAD2_uc011lii.2_Missense_Mutation_p.R585K|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.R794K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCAATATTCTTGGTCGAAA	0.343000														26			7		0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	70954932	70954932	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:70954932G>A	uc002ezr.3	-	45	7495	c.7344C>T	c.(7342-7344)ccC>ccT	p.P2448P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2449										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)				GTTGCTTGTCGGGGTCCTTTG	0.507000														18			10		0	0	0.007413	0	0
SSX5	6758	broad.mit.edu	37	X	48053621	48053621	+	Missense_Mutation	SNP	C	T	T	rs139280367		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:48053621C>T	uc004diz.1	-	4	400	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	SSX5_uc004dja.1_Missense_Mutation_p.R75Q	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R116L(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GTCTGCGACCCGTTTATTACG	0.488000														75			36		0	0	0.003214	0	0
SUCLG2	8801	broad.mit.edu	37	3	67559257	67559257	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:67559257G>A	uc021xae.1	-	6	759	c.731C>T	c.(730-732)cCc>cTc	p.P244L	SUCLG2_uc010hob.3_Intron|SUCLG2_uc003dna.4_Missense_Mutation_p.P244L	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	244	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCACCAAAGGGATTCACTTC	0.308000														14			6		0	0	0.001984	0	0
SYT3	84258	broad.mit.edu	37	19	51135778	51135778	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51135778C>T	uc002pst.3	-	1	1073	c.439G>A	c.(439-441)Gag>Aag	p.E147K	SYT3_uc002psv.3_Missense_Mutation_p.E147K|SYT3_uc010ycd.2_Missense_Mutation_p.E147K	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	147						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGCCTGGCTCCAGCAGCTCA	0.677000														11			3		0	0	0.004672	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041199	65041199	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:65041199A>G	uc001xhl.1	+	7	656	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	187																	AAAGAAATGGAATTGGTTTTA	0.423000														34			10		0	0	0.000978	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34637410	34637410	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:34637410G>A	uc003zvb.3	-	1	233	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SIGMAR1_uc003zva.4_Silent_p.D33D|SIGMAR1_uc003zuz.3_5'UTR|SIGMAR1_uc003zvd.3_Non-coding_Transcript|SIGMAR1_uc003zvc.3_Silent_p.D53D|SIGMAR1_uc011loo.1_Silent_p.D53D	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA.	53					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CCAGCTCGTGGTCCAGCCCTG	0.706000														9			11		0	0	0.000978	0	0
CNTN1	1272	broad.mit.edu	37	12	41333227	41333227	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:41333227C>T	uc001rmm.1	+	11	1432	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V	CNTN1_uc009zjy.2_Missense_Mutation_p.A440V|CNTN1_uc001rmn.1_Missense_Mutation_p.A429V|CNTN1_uc001rmo.3_Missense_Mutation_p.A440V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	440	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAACCTAAAGCTGCACCGAAA	0.403000														7			3		0	0	0.000248	0	0
KLK6	5653	broad.mit.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51462556G>A	uc002puh.3	-	4	691	c.626C>T	c.(625-627)cCg>cTg	p.P209L	KLK6_uc010eoj.3_Missense_Mutation_p.R72C|KLK6_uc002pui.3_Missense_Mutation_p.P200L|KLK6_uc002puj.3_Missense_Mutation_p.P93L|KLK6_uc010ycn.2_Missense_Mutation_p.P93L|KLK6_uc002pul.3_Missense_Mutation_p.P200L|KLK6_uc002pum.3_Missense_Mutation_p.P93L	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	200	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.G209D(1)|p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527000														22			9		0	0	0.006214	0	0
NFKB1	4790	broad.mit.edu	37	4	103498131	103498131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:103498131G>A	uc011ceq.2	+	6	970	c.503G>A	c.(502-504)gGa>gAa	p.G168E	NFKB1_uc011cep.2_Missense_Mutation_p.G169E|NFKB1_uc011cer.2_5'Flank	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	168	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TATAATCCTGGACTCTTGGTG	0.493000														29			4		0	0	0.000248	0	0
SH2D4A	63898	broad.mit.edu	37	8	19218823	19218823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:19218823C>T	uc003wzc.3	+	5	1012	c.704C>T	c.(703-705)tCt>tTt	p.S235F	SH2D4A_uc003wzb.3_Missense_Mutation_p.S235F|SH2D4A_uc011kym.2_Missense_Mutation_p.S190F	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	235						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGCAGGCATCTCGTGAGTAC	0.413000														8			3		0	0	0.000248	0	0
IFI35	3430	broad.mit.edu	37	17	41166293	41166293	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:41166293G>A	uc021txx.1	+	6	1067	c.844G>A	c.(844-846)Gtc>Atc	p.V282I		NM_005533	NP_005524	P80217	IN35_HUMAN	Homo sapiens interferon-induced protein 35 (IFI35), mRNA.	280				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGGCCTAGCAGTCTTCACCTC	0.647000														14			6		0	0	0.001984	0	0
LRP2	4036	broad.mit.edu	37	2	170135937	170135937	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:170135937G>A	uc002ues.3	-	11	1723	c.1510C>T	c.(1510-1512)Ctt>Ttt	p.L504F	LRP2_uc010zdf.1_Missense_Mutation_p.L504F	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	504					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAGTTATAAGGGTAACCCGA	0.398000														24			10		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196720582	196720582	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:196720582C>T	uc002utj.4	-	44	8649	c.8548G>A	c.(8548-8550)Gac>Aac	p.D2850N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2850	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGTGTGTCTTGAAGCCTG	0.433000														81			43		0	0	0.002222	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109374	145109374	+	RNA	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:145109374C>T	uc022cft.1	-	0		c.17G>A								Homo sapiens microRNA 891a (MIR891A), microRNA.																		GGCTCAGGTTCGTTGCAAGGA	0.388000														16			4		0	0	0.000248	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111956662	111956662	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:111956662G>A	uc004bdz.1	-	20	2356	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	687						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGGAGGGAGGTCGTCTT	0.572000														32			26		0	0	0.005443	0	0
AKAP4	8852	broad.mit.edu	37	X	49958661	49958661	+	Missense_Mutation	SNP	C	T	T	rs147442985		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:49958661C>T	uc004dow.1	-	4	827	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	AKAP4_uc004dou.1_Missense_Mutation_p.E226K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E57K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	235					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.E235K(2)		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)					TCCTTGATTTCCTTATGGGCC	0.458000														36			17		0	0	0.006122	0	0
GDF10	2662	broad.mit.edu	37	10	48428967	48428967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:48428967C>T	uc001jfb.3	-	1	1347	c.919G>A	c.(919-921)Gat>Aat	p.D307N	GDF10_uc009xnp.3_Missense_Mutation_p.D306N|GDF10_uc009xnq.2_Missense_Mutation_p.D307N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	307					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTCTCATCCAGCCCCGGC	0.746000														9			3		0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10300150	10300150	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10300150G>A	uc002gmm.2	-	30	4427	c.4332C>T	c.(4330-4332)gcC>gcT	p.A1444A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1444					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTATCAAGGGCTGCACAGG	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					34			17		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179408933	179408933	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:179408933C>T	uc021vsy.1	-	293	88544	c.88319G>A	c.(88318-88320)aGa>aAa	p.R29440K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R23135K|TTN_uc021vta.1_Missense_Mutation_p.R23068K|TTN_uc021vtb.1_Missense_Mutation_p.R22943K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30367	Fibronectin type-III 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29440T(1)|p.R22943T(1)|p.R29438T(1)|p.R23068T(1)|p.R23135T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACCTATTCTTTCCACGGG	0.373000														18			7		0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724647	140724647	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140724647C>T	uc003ljm.2	+	0	1047	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.I349I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	352	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTACAATCACGTCTCTCA	0.463000														53			12		0	0	0.001368	0	0
TTLL6	284076	broad.mit.edu	37	17	46863592	46863592	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:46863592C>T	uc021tzm.1	-	11	1730	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	TTLL6_uc002iob.3_Silent_p.K258K|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.K318K|TTLL6_uc002iod.3_Silent_p.K412K	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	517						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTCATGCCCTTCTTTCTCA	0.527000														267			54		0	0	0.003610	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:98445848G>A	uc003upo.3	-	7	1328	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_uc011kiq.2_Intron|TMEM130_uc011kir.2_Intron|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000														29			12		0	0	0.001855	0	0
C15orf27	123591	broad.mit.edu	37	15	76494550	76494550	+	Silent	SNP	G	A	A	rs138438508		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:76494550G>A	uc002bbq.3	+	9	1121	c.966G>A	c.(964-966)acG>acA	p.T322T	C15orf27_uc010bkp.3_Silent_p.T138T|C15orf27_uc002bbr.3_Silent_p.T138T|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	322						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TAGAAGCCACGATGAAGGACG	0.532000														36			26		0	0	0.004656	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052306	55052306	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:55052306G>A	uc003dhf.3	+	34	2997	c.2949G>A	c.(2947-2949)aaG>aaA	p.K983K	CACNA2D3_uc003dhg.1_Silent_p.K889K|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	983						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCACCATCAAGGAGACTACAG	0.493000														11			3		0	0	0.004672	0	0
TRAV20	28663	broad.mit.edu	37	14	22509134	22509134	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:22509134G>A	uc021rpo.1	+	1	138	c.72G>A	c.(70-72)caG>caA	p.Q24Q	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		GAGAAGACCAGGTGACGCAGA	0.448000														16			4		0	0	0.000602	0	0
HSPB2	3316	broad.mit.edu	37	11	111784511	111784511	+	Silent	SNP	T	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:111784511T>A	uc001pmg.2	+	1	535	c.441T>A	c.(439-441)ccT>ccA	p.P147P	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	147					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGGAAGCACCTCGGGGTGGCC	0.592000														15			18		0	0	0.006122	0	0
abParts	0	broad.mit.edu	37	14	106641622	106641622	+	RNA	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:106641622C>T	uc021ser.1	-	1493		c.29763G>A								Parts of antibodies, mostly variable regions.																		TCCATGTAGGCTGTGCTCGTG	0.522000														68			18		0	0	0.007413	0	0
BCAM	4059	broad.mit.edu	37	19	45316532	45316532	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:45316532G>A	uc002ozu.3	+	4	574	c.530G>A	c.(529-531)gGg>gAg	p.G177E	BCAM_uc002ozt.1_Missense_Mutation_p.G177E	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	177	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCGGAACGGGAACCCGGCC	0.662000														135			46		0	0	0.003610	0	0
NEMF	9147	broad.mit.edu	37	14	50267277	50267277	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:50267277C>T	uc010anj.1	-	22	2301	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	NEMF_uc001wwz.3_5'Flank|NEMF_uc001wxa.3_Missense_Mutation_p.E25K|NEMF_uc001wxc.3_Missense_Mutation_p.E745K|NEMF_uc010tqi.2_Missense_Mutation_p.E724K|NEMF_uc001wxe.2_Missense_Mutation_p.E703K|NEMF_uc001wxd.1_Missense_Mutation_p.E150K	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	745						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GAGCTTTCTTCCTGAATGAGC	0.413000														40			8		0	0	0.004482	0	0
OR52N2	390077	broad.mit.edu	37	11	5842082	5842082	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:5842082G>A	uc010qzp.2	+	0	517	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATTGCCGGGGGAACTTCAT	0.517000														15			9		0	0	0.004482	0	0
HEXDC	284004	broad.mit.edu	37	17	80382341	80382341	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:80382341G>A	uc002kev.4	+	2	572	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HEXDC_uc002kew.3_Silent_p.E52E	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	52					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTCCCTACGAGGGCCCTCTGA	0.597000														35			19		0	0	0.001882	0	0
ZNF302	55900	broad.mit.edu	37	19	35175586	35175586	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:35175586T>C	uc002nvr.1	+	5	1039	c.776T>C	c.(775-777)aTc>aCc	p.I259T	ZNF302_uc002nvp.1_Missense_Mutation_p.I215T|ZNF302_uc002nvq.1_Missense_Mutation_p.I215T|ZNF302_uc002nvs.1_Missense_Mutation_p.I215T	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAACAGTCAATCCTCAGTCGC	0.453000														39			11		0	0	0.001368	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17965056	17965056	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:17965056G>A	uc001ban.3	+	20	2203	c.2044_splice	c.e20-1	p.N682_splice	ARHGEF10L_uc009vpe.1_Splice_Site_p.N643_splice|ARHGEF10L_uc001bao.3_Splice_Site_p.N643_splice|ARHGEF10L_uc001bap.3_Splice_Site_p.N638_splice|ARHGEF10L_uc010ocr.1_Splice_Site_p.N440_splice|ARHGEF10L_uc001baq.3_Splice_Site_p.N443_splice|ARHGEF10L_uc010ocs.2_Splice_Site_p.N455_splice|ARHGEF10L_uc001bar.3_Splice_Site_p.N385_splice|ARHGEF10L_uc009vpf.3_Splice_Site	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	682					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGAACCCTAGAACCTGAACA	0.562000														26			16		0	0	0.006122	0	0
TCF7	6932	broad.mit.edu	37	5	133473780	133473780	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:133473780C>T	uc003kyt.3	+	3	668	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	TCF7_uc003kyv.3_Missense_Mutation_p.P43S|TCF7_uc003kyw.3_Missense_Mutation_p.P43S|TCF7_uc003kyu.2_Missense_Mutation_p.P43S|TCF7_uc003kyy.3_Missense_Mutation_p.P43S|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Missense_Mutation_p.P43S|TCF7_uc003kza.3_Missense_Mutation_p.P43S	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	158					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACGGTGTCCCCCAACTCTC	0.587000														27			18		0	0	0.002780	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329442	24329442	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:24329442T>A	uc011mjw.2	-	0	1991	c.1991A>T	c.(1990-1992)cAg>cTg	p.Q664L		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	664	Gln-rich.									breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						GGACTGCTGCTGCGGGCCGGT	0.612000														66			13		0	0	0.001368	0	0
PPP2R4	5524	broad.mit.edu	37	9	131909680	131909681	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:131909680_131909681CC>TT	uc004bxm.2	+	10	1301_1302	c.1014_1015CC>TT	c.(1012-1017)ttccct>ttTTct	p.P339S	PPP2R4_uc004bxl.2_Missense_Mutation_p.P304S|PPP2R4_uc010myr.2_Missense_Mutation_p.P85S|PPP2R4_uc004bxn.2_Missense_Mutation_p.P304S|PPP2R4_uc004bxo.2_Missense_Mutation_p.P262S|PPP2R4_uc011mbp.2_Missense_Mutation_p.P275S|PPP2R4_uc010mys.2_Missense_Mutation_p.P269S|PPP2R4_uc004bxp.3_Non-coding_Transcript|PPP2R4_uc004bxq.3_Non-coding_Transcript	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	339					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGGAGAAGTTCCCTGTGATCCA	0.634000														23			10		0	0	0.004672	0	0
COL4A4	1286	broad.mit.edu	37	2	227924291	227924291	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227924291G>A	uc021vxr.1	-	26	2314	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	COL4A4_uc021vxs.1_Missense_Mutation_p.S738F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	738	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACAGGGGAGGACCCCTTTTC	0.512000														47			16		0	0	0.008871	0	0
SLC25A6	293	broad.mit.edu	37	X	1508348	1508348	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:1508348G>A	uc004cpt.3	-	1	521	c.384C>T	c.(382-384)ctC>ctT	p.L128L	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	128					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	ACACGAAGCAGAGGGAGGTCG	0.662000														113			11		0	0	0.000978	0	0
TBCE	6905	broad.mit.edu	37	1	235602172	235602172	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:235602172C>T	uc010pxr.1	+	13	1481	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	TBCE_uc001hwz.1_Missense_Mutation_p.P402L|TBCE_uc001hxa.1_Missense_Mutation_p.P402L|TBCE_uc001hxb.1_Missense_Mutation_p.P289L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	402					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CATAAGGATCCGGAAAAAAAC	0.507000														104			8		0	0	0.003080	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504711	51504711	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:51504711C>T	uc001zyz.4	-	9	1320	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CYP19A1_uc001zza.4_Missense_Mutation_p.E357K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E357K	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	357					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATGAAGTTTTCCATCACTTTT	0.388000														13			13		0	0	0.001855	0	0
OR6C1	390321	broad.mit.edu	37	12	55715172	55715172	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:55715172A>T	uc010spi.2	+	0	789	c.789A>T	c.(787-789)aaA>aaT	p.K263N		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K263K(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTCAGCAAAAGATAGAGTGT	0.443000														13			14		0	0	0.001855	0	0
SFSWAP	6433	broad.mit.edu	37	12	132209970	132209970	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:132209970C>T	uc001uja.1	+	4	767	c.627C>T	c.(625-627)caC>caT	p.H209H	SFSWAP_uc010tbn.1_Silent_p.H209H|SFSWAP_uc001ujb.1_Silent_p.H2H|SFSWAP_uc001uiz.1_Silent_p.H83H	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	209					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTAAAATGCACGCCATCATCG	0.517000														42			9		0	0	0.000978	0	0
FAM196A	642938	broad.mit.edu	37	10	128974537	128974537	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:128974537C>T	uc001lju.1	-	0	164	c.123G>A	c.(121-123)cgG>cgA	p.R41R	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.R41R|FAM196A_uc001ljv.1_Silent_p.R41R|FAM196A_uc009yap.1_Silent_p.R41R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	41										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGCTTTGTTCCGTTTTTTAA	0.582000														98			14		0	0	0.002450	0	0
GK	2710	broad.mit.edu	37	X	30745606	30745606	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:30745606C>T	uc022buj.1	+	19	1785	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	GK_uc004dch.4_Intron|GK_uc010ngj.3_Silent_p.L530L|GK_uc004dci.4_Intron|GK_uc011mjz.2_Silent_p.L331L|GK_uc011mka.2_Intron|GK_uc010ngk.3_Silent_p.L325L	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	536					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTTCTGTAGTCTGCCCTTGGG	0.373000														17			8		0	0	0.006214	0	0
DSC3	1825	broad.mit.edu	37	18	28581592	28581592	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:28581592C>T	uc002kwj.4	-	13	2382	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	DSC3_uc002kwi.4_Missense_Mutation_p.D743N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	743					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACCACTCTATCGTCTCCAGGT	0.294000														21			9		0	0	0.004482	0	0
GABRE	2564	broad.mit.edu	37	X	151123232	151123232	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:151123232A>C	uc004ffi.3	-	8	1516	c.1462T>G	c.(1462-1464)Ttc>Gtc	p.F488V	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	488					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTGGGAAAACAACTCTC	0.532000														28			6		0	0	0.001168	0	0
ACAP2	23527	broad.mit.edu	37	3	195000119	195000119	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:195000119G>A	uc003fun.4	-	22	2516	c.2275C>T	c.(2275-2277)Caa>Taa	p.Q759*		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	759					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GATGCCATTTGGGAAAAATCA	0.303000														51			11		0	0	0.000978	0	0
DKK2	27123	broad.mit.edu	37	4	107845214	107845214	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:107845214T>C	uc003hyi.3	-	3	1382	c.677A>G	c.(676-678)gAa>gGa	p.E226G	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	226	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTGGAAAATTTCCAGCCCATG	0.488000														18			8		0	0	0.006214	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988584	98988585	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:98988584_98988585CC>TT	uc003upz.3	+	5	689_690	c.569_570CC>TT	c.(568-570)ccc>cTT	p.P190L		NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	190					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAAGATGCCCTTTGGGGAAC	0.589000														55			25		0	0	0.004672	0	0
C3orf32	51066	broad.mit.edu	37	3	8672581	8672582	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:8672581_8672582GG>AA	uc011atg.2	-	5	474_475	c.434_435CC>TT	c.(433-435)tcc>tTT	p.S145F	C3orf32_uc003bqz.3_Missense_Mutation_p.S123F|C3orf32_uc003bqt.3_Missense_Mutation_p.S72F|C3orf32_uc003bqu.3_Missense_Mutation_p.S123F|C3orf32_uc003bqv.3_Missense_Mutation_p.S72F|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.S123F	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						AGAGCCTGGGGGAGGCGCCTCT	0.525000														31			16		0	0	0.004672	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329567	117329567	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:117329567C>T	uc001prh.1	-	18	3653	c.3651G>A	c.(3649-3651)atG>atA	p.M1217I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1157	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGAACTTCTCCATGCCCCGCA	0.632000														32			22		0	0	0.002299	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65390804	65390804	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:65390804C>T	uc010tsl.2	+	1	270	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CHURC1-FNTB_uc010tsk.2_Silent_p.S72S|CHURC1-FNTB_uc010tsj.2_Silent_p.S72S|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Silent_p.S72S|CHURC1-FNTB_uc001xhv.2_Silent_p.S45S|CHURC1-FNTB_uc001xhw.2_Silent_p.S72S	NM_001202559	NP_001189488	B4DL54	B4DL54_HUMAN	Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA.	45					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										CAAACAAATCCTTGAAAGAAG	0.393000														15			4		0	0	0.000602	0	0
LRRK2	120892	broad.mit.edu	37	12	40643669	40643669	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:40643669T>G	uc001rmg.4	+	7	1001	c.880T>G	c.(880-882)Ttt>Gtt	p.F294V	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	294					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTCCATGAGTTTGTGGTGAA	0.393000														4			5		0	0	0.000602	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:39240908T>C	uc010wfn.2	+	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.C150C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607000														10			3		0	0	0.004672	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379780	47379780	+	RNA	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:47379780G>A	uc010qfz.2	+	0		c.61G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		TTGCTCCACTGAAAATGACAG	0.358000														10			6		0	0	0.003080	0	0
OR2T3	343173	broad.mit.edu	37	1	248637424	248637424	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:248637424G>A	uc001iel.1	+	0	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTCTTCGGTGCTTCCTTC	0.547000														97			27		0	0	0.006320	0	0
IQCF3	401067	broad.mit.edu	37	3	51863696	51863696	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:51863696G>A	uc021wyy.1	+	5	822	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.E12K	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	12										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGTCCAGATGAAGATGCAGT	0.527000														17			4		0	0	0.000248	0	0
PHKA1	5255	broad.mit.edu	37	X	71887314	71887314	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:71887314C>T	uc004eax.4	-	6	929	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	PHKA1_uc004eay.4_Missense_Mutation_p.E210K|PHKA1_uc011mqi.2_Missense_Mutation_p.E210K	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	210					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCTAATGCTTCCAGGGCTGCC	0.408000														21			7		0	0	0.003080	0	0
SYCP2L	221711	broad.mit.edu	37	6	10935386	10935386	+	Silent	SNP	T	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:10935386T>G	uc003mzo.3	+	20	2075	c.1779T>G	c.(1777-1779)gcT>gcG	p.A593A	SYCP2L_uc010jow.3_Silent_p.A213A	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	593						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATAGTTTTGCTTTTTTGACTG	0.348000														9			11		0	0	0.001368	0	0
VIPR2	7434	broad.mit.edu	37	7	158829468	158829468	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:158829468G>A	uc003woh.3	-	6	909	c.723C>T	c.(721-723)ttC>ttT	p.F241F	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	241					cell-cell signaling	integral to plasma membrane		p.C240F(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGTAGGCCAGGAAGCACCTTC	0.582000														20			8		0	0	0.003080	0	0
ABI3	51225	broad.mit.edu	37	17	47295174	47295175	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47295174_47295175CC>TT	uc002iop.1	+	2	857_858	c.359_360CC>TT	c.(358-360)ccc>cTT	p.P120L	ABI3_uc002ioq.1_Missense_Mutation_p.P114L	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	120					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGGCTGCCCCCCGGCCAGAAGG	0.599000										HNSCC(55;0.14)				30			10		0	0	0.004672	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092827	147092827	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:147092827G>A	uc003weu.2	+	9	2141	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	542	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P541P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGAAGCCGGGAAGTTTCGCG	0.438000										HNSCC(39;0.1)				32			11		0	0	0.000978	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427784	27427784	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:27427784G>A	uc010eyv.1	-	8	1072	c.750C>T	c.(748-750)ccC>ccT	p.P250P	SLC5A6_uc002rjd.3_Silent_p.P250P	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	250					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCCGCACAAAGGGGTCTGGAT	0.572000														33			6		0	0	0.003080	0	0
ASTE1	28990	broad.mit.edu	37	3	130743531	130743531	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:130743531A>G	uc010htm.1	-	2	827	c.620T>C	c.(619-621)tTc>tCc	p.F207S	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Missense_Mutation_p.F207S|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	207					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CATATTGCTGAAGTGATGGCA	0.403000														31			6		0	0	0.001984	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994940	51994940	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51994940C>T	uc002pwx.1	-	7	1799	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	SIGLEC12_uc002pww.1_Silent_p.Q463Q|SIGLEC12_uc010eoy.1_Silent_p.Q308Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	581					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATGGCCTCCTGTTCCTGTG	0.582000														46			19		0	0	0.002299	0	0
USP26	83844	broad.mit.edu	37	X	132161510	132161510	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:132161510G>A	uc011mvf.2	-	0	791	c.739C>T	c.(739-741)Cct>Tct	p.P247S	USP26_uc010nrm.1_Missense_Mutation_p.P247S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	247					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTAGGTAAGGATTTCCAGTG	0.373000														20			5		0	0	0.000602	0	0
FAM57B	83723	broad.mit.edu	37	16	30037049	30037049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:30037049G>A	uc002dvt.3	-	3	876	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	180	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCACTCACCTGGATGAGGATC	0.592000														80			39		0	0	0.002852	0	0
LONRF2	164832	broad.mit.edu	37	2	100919490	100919490	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:100919490C>T	uc002tal.4	-	2	1454	c.814G>A	c.(814-816)Gct>Act	p.A272T	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	272					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AGAGCCTGAGCTTTTACTTGA	0.368000														65			6		0	0	0.001168	0	0
HHAT	55733	broad.mit.edu	37	1	210577938	210577938	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:210577938C>T	uc010psr.2	+	4	707	c.602C>T	c.(601-603)tCc>tTc	p.S201F	HHAT_uc009xcx.3_Missense_Mutation_p.S200F|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Missense_Mutation_p.S135F|HHAT_uc010pss.2_Missense_Mutation_p.S155F|HHAT_uc010pst.2_Missense_Mutation_p.S137F|HHAT_uc001hhz.4_Missense_Mutation_p.S200F|HHAT_uc021pip.1_Missense_Mutation_p.S200F|HHAT_uc010psu.2_Missense_Mutation_p.S135F	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	200					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACCTCCTACTCCTTTCCCTGG	0.557000														49			6		0	0	0.001984	0	0
SPIN2A	54466	broad.mit.edu	37	X	57162290	57162290	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:57162290G>A	uc022bxx.1	-	0	741	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SPIN2A_uc004dvb.3_Silent_p.F247F|SPIN2B_uc022bxy.1_Non-coding_Transcript	NM_019003	NP_061876	Q99865	SPI2A_HUMAN	Homo sapiens spindlin family, member 2A (SPIN2A), mRNA.	247					cell cycle|gamete generation					breast(1)|kidney(1)|ovary(1)	3						CATAGATATGGAAATCATCAT	0.363000														38			12		0	0	0.004990	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536852	140536852	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140536852G>A	uc003lis.3	+	0	1273	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		TACTGTCACAGACTTGGGGAC	0.507000														38			5		0	0	0.001168	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790426	65790426	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:65790426C>T	uc001ogt.3	-	1	1461	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	441					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.I440S(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGTCAGGTTCCGGATCATTT	0.542000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			28		0	0	0.005443	0	0
PCNT	5116	broad.mit.edu	37	21	47841920	47841920	+	Missense_Mutation	SNP	G	A	A	rs144775948		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:47841920G>A	uc002zji.4	+	31	7168	c.7061G>A	c.(7060-7062)gGg>gAg	p.G2354E	PCNT_uc002zjj.3_Missense_Mutation_p.G2236E	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2354					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGAGCCCGGGGTCAGGAGGC	0.617000														59			14		0	0	0.003163	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134458021	134458021	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:134458021C>T	uc022bos.1	-	21	3138	c.2979G>A	c.(2977-2979)tcG>tcA	p.S993S	RAPGEF1_uc022bot.1_Silent_p.S975S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	975	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTCCACCTCCGAGAGGGCGG	0.662000														59			19		0	0	0.003330	0	0
FZR1	51343	broad.mit.edu	37	19	3527703	3527704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3527703_3527704CC>TT	uc010dtk.2	+	5	579_580	c.545_546CC>TT	c.(544-546)ccc>cTT	p.P182L	FZR1_uc002lxt.2_Missense_Mutation_p.P182L|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	182					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACGCGCCCGAGCTGCAGG	0.634000														21			9		0	0	0.004672	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816807	77816807	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:77816807G>A	uc003hki.3	-	0	2196	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	732																	GATAGACAGGGAAAATGGGCT	0.502000														128			38		0	0	0.006230	0	0
SLC12A6	9990	broad.mit.edu	37	15	34531303	34531303	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:34531303G>A	uc001zhw.3	-	18	2659	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	SLC12A6_uc001zhv.3_Missense_Mutation_p.A781V|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.A817V|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.A773V|SLC12A6_uc001zib.3_Missense_Mutation_p.A823V|SLC12A6_uc001zic.3_Missense_Mutation_p.A832V|SLC12A6_uc010bau.3_Missense_Mutation_p.A832V|SLC12A6_uc001zid.3_Missense_Mutation_p.A773V|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.A644V	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	832					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CAGCTTGGCGGCCACCACCAG	0.552000														100			50		0	0	0.003610	0	0
HN1L	90861	broad.mit.edu	37	16	1747840	1747840	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:1747840G>A	uc010uvi.2	+	4	484	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	HN1L_uc002cmg.3_Missense_Mutation_p.E122K|HN1L_uc010brt.3_Non-coding_Transcript|HN1L_uc010bru.3_3'UTR|HN1L_uc010uvj.2_3'UTR|HN1L_uc010uvk.2_Missense_Mutation_p.E109K	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA.	122						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAAGGAGAAGAACCAAAATC	0.403000														64			28		0	0	0.001786	0	0
WDR96	80217	broad.mit.edu	37	10	105939630	105939630	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:105939630C>T	uc001kxw.3	-	17	2466	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	WDR96_uc009xxq.3_Missense_Mutation_p.E92K|WDR96_uc001kxx.4_Missense_Mutation_p.E785K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	784										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGGAATTTCCTTCTTAACA	0.358000														55			10		0	0	0.000978	0	0
ZYX	7791	broad.mit.edu	37	7	143087006	143087006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143087006G>A	uc003wcx.3	+	8	1708	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	ZYX_uc011ktd.2_Missense_Mutation_p.R360Q|ZYX_uc003wcw.3_Missense_Mutation_p.R517Q|ZYX_uc011kte.2_Missense_Mutation_p.R486Q|ZYX_uc011ktf.2_Missense_Mutation_p.R360Q	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	517	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGCCTGGCCGAGATGAGACT	0.597000														56			21		0	0	0.001882	0	0
OR2A12	346525	broad.mit.edu	37	7	143792752	143792752	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143792752C>T	uc011kty.2	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493000														49			15		0	0	0.002450	0	0
STAB2	55576	broad.mit.edu	37	12	104049234	104049234	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:104049234G>A	uc001tjw.3	+	15	1795	c.1609_splice	c.e15-1	p.E537_splice		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	537	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAATGCAGGAAACCAATTT	0.378000														31			17		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82581797	82581797	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:82581797G>A	uc003uhx.2	-	4	8761	c.8472C>T	c.(8470-8472)ctC>ctT	p.L2824L	PCLO_uc003uhv.2_Silent_p.L2824L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2755					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTAAGTTGGAGTGGTGTTG	0.468000														14			11		0	0	0.001368	0	0
ZNF555	148254	broad.mit.edu	37	19	2851627	2851627	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:2851627A>G	uc002lwo.3	+	2	430	c.292A>G	c.(292-294)Aca>Gca	p.T98A	ZNF555_uc002lwn.4_Missense_Mutation_p.T98A	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCAAACCACAAACCAGGG	0.393000														18			3		0	0	0.004672	0	0
ART3	419	broad.mit.edu	37	4	77003171	77003171	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:77003171G>A	uc003hjo.3	+	2	398	c.264G>A	c.(262-264)atG>atA	p.M88I	ART3_uc003hji.3_Missense_Mutation_p.M88I|ART3_uc003hjj.3_Missense_Mutation_p.M88I|ART3_uc003hjk.3_Missense_Mutation_p.M88I|ART3_uc010ija.2_Missense_Mutation_p.M88I|ART3_uc003hjn.3_Missense_Mutation_p.M88I|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.M58I|ART3_uc010ijc.3_Missense_Mutation_p.M58I|ART3_uc010ijd.3_Missense_Mutation_p.M58I	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	88					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTCCCTATGAATTTTAAGG	0.428000														30			5		0	0	0.000602	0	0
SCN3A	6328	broad.mit.edu	37	2	165947448	165947448	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:165947448C>T	uc002ucx.3	-	27	5707	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R	SCN3A_uc010zcy.2_Missense_Mutation_p.G222R|SCN3A_uc002ucy.3_Missense_Mutation_p.G1690R|SCN3A_uc002ucz.3_Missense_Mutation_p.G1690R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1739						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1739R(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCACAGTCTCCCTTAACTGAG	0.483000														33			8		0	0	0.003080	0	0
GLA	2717	broad.mit.edu	37	X	100656651	100656651	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:100656651A>C	uc004ehl.1	-	2	626	c.516T>G	c.(514-516)tgT>tgG	p.C172W	RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron|GLA_uc011mrj.1_Missense_Mutation_p.C172W	NM_000169	NP_000160	P06280	AGAL_HUMAN	Homo sapiens galactosidase, alpha (GLA), mRNA.	172			C -> R (in FD).|C -> Y (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	Golgi apparatus|extracellular region|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TGTCACAGTAACAACCATCAA	0.438000														53			8		0	0	0.008291	0	0
SLC27A2	11001	broad.mit.edu	37	15	50518184	50518184	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:50518184G>A	uc001zxw.3	+	6	1400	c.1168_splice	c.e6-1	p.K390_splice	SLC27A2_uc010bes.3_Splice_Site_p.K337_splice|SLC27A2_uc001zxx.3_Splice_Site_p.K155_splice	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	390					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AATCTTGCTAGAAAATCATAA	0.318000														12			9		0	0	0.004482	0	0
OR13C8	138802	broad.mit.edu	37	9	107332290	107332290	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:107332290C>T	uc011lvo.2	+	0	842	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCCCTCATCTCCCTTTTCTAT	0.413000														17			17		0	0	0.006122	0	0
C6orf10	10665	broad.mit.edu	37	6	32317528	32317528	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:32317528C>T	uc021yvt.1	-	8	511	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	C6orf10_uc011dpx.2_Missense_Mutation_p.R83Q|C6orf10_uc021yvs.1_Missense_Mutation_p.R113Q|C6orf10_uc011dpz.2_Missense_Mutation_p.R90Q|C6orf10_uc021yvu.1_Missense_Mutation_p.R90Q|C6orf10_uc021yvv.1_Missense_Mutation_p.R83Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	113						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AATACTTGATCGAGACAGTGC	0.383000														30			5		0	0	0.000602	0	0
VAV1	7409	broad.mit.edu	37	19	6821821	6821821	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:6821821G>A	uc002mfu.1	+	3	497	c.400G>A	c.(400-402)Gag>Aag	p.E134K	VAV1_uc010xjh.1_Missense_Mutation_p.E134K|VAV1_uc010dva.1_Missense_Mutation_p.E134K|VAV1_uc002mfv.1_Missense_Mutation_p.E79K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	134					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGAGGAGGAGAGTGTAGG	0.657000														48			10		0	0	0.001368	0	0
KRT38	8687	broad.mit.edu	37	17	39594521	39594521	+	Silent	SNP	G	A	A	rs146972741		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:39594521G>A	uc002hwq.1	-	5	1488	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	355	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTCCGTGCCGAAGCGGTCCT	0.567000														23			19		0	0	0.008871	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816142	16816142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:16816142G>A	uc010rcu.1	-	18	2653	c.2638C>T	c.(2638-2640)Cga>Tga	p.R880*	PLEKHA7_uc001mmo.3_Nonsense_Mutation_p.R880*|PLEKHA7_uc001mmm.3_5'Flank|PLEKHA7_uc010rcv.2_Nonsense_Mutation_p.R454*|PLEKHA7_uc001mmn.3_Nonsense_Mutation_p.R588*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	880	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGAGTCGAACCTCCAGA	0.622000														40			25		0	0	0.003330	0	0
MEX3A	92312	broad.mit.edu	37	1	156046378	156046378	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:156046378C>T	uc001fnd.4	-	1	1550	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	517						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGAGAATATTCGGATGGCTTG	0.587000														44			24		0	0	0.004656	0	0
PON1	5444	broad.mit.edu	37	7	94991698	94991698	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:94991698G>A	uc003unt.3	-	7	907	c.882C>T	c.(880-882)aaC>aaT	p.N294N	PON1_uc011kih.2_Intron	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	295					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGTCCTCAGGGTTATAGTTCA	0.463000														18			10		0	0	0.008291	0	0
C10orf81	79949	broad.mit.edu	37	10	115534631	115534631	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:115534631G>A	uc001lat.2	+	8	1370	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	C10orf81_uc009xyc.2_Missense_Mutation_p.E188K|C10orf81_uc001lar.2_Missense_Mutation_p.E276K|C10orf81_uc001las.2_Missense_Mutation_p.E188K|C10orf81_uc001lau.2_Missense_Mutation_p.E90K	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	270										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CAGCAAAGAGGAACCCCAGAC	0.468000														28			10		0	0	0.001855	0	0
NFATC4	4776	broad.mit.edu	37	14	24838810	24838810	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:24838810C>T	uc001wpc.3	+	1	527	c.206C>T	c.(205-207)cCt>cTt	p.P69L	NFATC4_uc010alr.3_Missense_Mutation_p.P132L|NFATC4_uc010tok.2_Missense_Mutation_p.P132L|NFATC4_uc010tol.2_Missense_Mutation_p.P132L|NFATC4_uc010als.2_Missense_Mutation_p.P82L|NFATC4_uc010too.2_Missense_Mutation_p.P82L|NFATC4_uc010tom.2_Missense_Mutation_p.P82L|NFATC4_uc010ton.2_Missense_Mutation_p.P82L|NFATC4_uc010toq.2_Missense_Mutation_p.P101L|NFATC4_uc010alt.3_Missense_Mutation_p.P101L|NFATC4_uc010top.2_Missense_Mutation_p.P101L|NFATC4_uc010alu.3_Missense_Mutation_p.P69L|NFATC4_uc010tor.2_Missense_Mutation_p.P69L|NFATC4_uc010tos.2_5'UTR|NFATC4_uc010tot.2_Missense_Mutation_p.P57L|NFATC4_uc010tou.2_5'UTR|NFATC4_uc010tov.2_Missense_Mutation_p.P57L|NFATC4_uc010tow.2_5'UTR|NFATC4_uc010alv.3_Missense_Mutation_p.P57L|NFATC4_uc010tox.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	69	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCCTCGGCCTGGCATGCAT	0.701000														40			11		0	0	0.001368	0	0
PARP3	10039	broad.mit.edu	37	3	51981903	51981903	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:51981903C>T	uc003dby.3	+	9	1795	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	PARP3_uc003dbz.3_Missense_Mutation_p.T482I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	475	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGCCACACCGAGCCTGGT	0.612000														72			15		0	0	0.004990	0	0
EPHB1	2047	broad.mit.edu	37	3	134898712	134898712	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:134898712G>A	uc003eqt.3	+	9	2145	c.1770G>A	c.(1768-1770)ggG>ggA	p.G590G	EPHB1_uc003equ.3_Silent_p.G151G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	590						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.P589P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTCCCCAGGGATGAAGATCT	0.488000														59			43		0	0	0.003610	0	0
CRELD2	79174	broad.mit.edu	37	22	50313864	50313864	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:50313864C>T	uc010hal.2	+	3	519	c.384C>T	c.(382-384)tgC>tgT	p.C128C	ALG12_uc003biy.3_5'Flank|CRELD2_uc003biz.3_Silent_p.C128C|CRELD2_uc010haj.3_Silent_p.C128C|CRELD2_uc003bja.2_Silent_p.C128C|CRELD2_uc010hak.2_Silent_p.C128C|CRELD2_uc010ham.2_Silent_p.C128C	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	128						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTGTGCTGCTCTCCAGGAA	0.498000														26			22		0	0	0.002780	0	0
DSCAM	1826	broad.mit.edu	37	21	41561001	41561001	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:41561001C>T	uc002yyq.1	-	11	2973	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	841	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTCCCACCTCCTTGGTGGAC	0.473000														59			39		0	0	0.003610	0	0
DGCR14	8220	broad.mit.edu	37	22	19130249	19130249	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:19130249G>A	uc002zou.3	-	1	331	c.294C>T	c.(292-294)ccC>ccT	p.P98P		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	98					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGGGTGGCGGGGGCTCCCGGG	0.582000														61			61		0	0	0.003610	0	0
PIGR	5284	broad.mit.edu	37	1	207112655	207112655	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:207112655G>A	uc001hez.3	-	2	381	c.197C>T	c.(196-198)aCc>aTc	p.T66I	PIGR_uc009xbz.3_Missense_Mutation_p.T66I	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	66	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGATGAGGGTTATGCAGCC	0.577000														42			19		0	0	0.002299	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999751	72999751	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:72999751G>A	uc002lly.3	+	1	2817	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	TSHZ1_uc021uln.1_Missense_Mutation_p.A752T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	797						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGGCCGATGCCATCGACCG	0.582000														31			11		0	0	0.001855	0	0
GPR50	9248	broad.mit.edu	37	X	150348293	150348293	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:150348293T>A	uc010ntg.2	+	1	376	c.238T>A	c.(238-240)Tac>Aac	p.Y80N	GPR50_uc011myc.2_Missense_Mutation_p.Y80N	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	80					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCCATCTACCCATACCC	0.522000														242			42		0	0	0.003610	0	0
GON4L	54856	broad.mit.edu	37	1	155631048	155631048	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155631048A>G	uc009wqx.3	-	8	1652	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	GON4L_uc021paz.1_Intron|GON4L_uc010pgg.2_Intron|GON4L_uc010pgh.2_Intron|GON4L_uc009wqt.3_Intron|GON4L_uc001flh.3_Intron|GON4L_uc010pgi.2_Intron|GON4L_uc001fll.3_Intron|GON4L_uc001flk.3_Intron|GON4L_uc001flm.3_Intron|GON4L_uc009wqu.3_Intron|GON4L_uc009wqv.3_Intron|GON4L_uc009wqw.3_Intron|GON4L_uc001flj.3_Intron|GON4L_uc001fli.3_Intron|GON4L_uc001flo.3_Intron|GON4L_uc001fln.3_Intron|GON4L_uc010pgj.2_Intron|GON4L_uc001flp.3_Intron	NM_001198906	NP_001185835	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 13, mRNA.	0					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTCTCAGAACTTTCAGTGA	0.443000														31			18		0	0	0.003954	0	0
ADC	113451	broad.mit.edu	37	1	33583638	33583638	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:33583638G>C	uc009vug.3	+	7	1297	c.1225G>C	c.(1225-1227)Gcc>Ccc	p.A409P	ADC_uc001bwr.3_Missense_Mutation_p.A389P|ADC_uc001bws.3_Missense_Mutation_p.A389P|ADC_uc009vue.3_Missense_Mutation_p.A389P|ADC_uc001bwt.1_Missense_Mutation_p.A294P|ADC_uc001bwu.3_Missense_Mutation_p.A294P|ADC_uc001bwv.3_Missense_Mutation_p.A294P|ADC_uc001bwx.1_Missense_Mutation_p.A366P	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	389					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAACATGGGCGCCTACACTGT	0.637000														45			14		0	0	0.002450	0	0
PHF7	51533	broad.mit.edu	37	3	52456779	52456779	+	Silent	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52456779G>A	uc003ddy.3	+	9	1607	c.801G>A	c.(799-801)agG>agA	p.R267R	PHF7_uc003ddz.3_Silent_p.R228R	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	267						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCTCTAGGAGGTGGTGCCTCA	0.502000														86			12		0	0	0.001855	0	0
ANO2	57101	broad.mit.edu	37	12	5708726	5708726	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:5708726C>T	uc001qnm.2	-	20	2229	c.2157G>A	c.(2155-2157)tcG>tcA	p.S719S		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGATGTTTCGAATGGGCAG	0.453000														40			32		0	0	0.002445	0	0
SCN1A	6323	broad.mit.edu	37	2	166901553	166901553	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:166901553C>T	uc002udo.4	-	12	1889	c.1662_splice	c.e12+1	p.Q554_splice	SCN1A_uc010fpk.3_Splice_Site_p.Q554_splice|SCN1A_uc021vsb.1_Splice_Site_p.Q554_splice	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	554						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTGCCATACCTGGTGTGGGG	0.418000														11			3		0	0	0.004672	0	0
SCN8A	6334	broad.mit.edu	37	12	52159762	52159763	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52159762_52159763CC>TT	uc001ryw.3	+	15	3030_3031	c.2852_2853CC>TT	c.(2851-2853)gcc>gTT	p.A951V	SCN8A_uc010snl.2_Missense_Mutation_p.A951V|SCN8A_uc001ryy.2_Missense_Mutation_p.A816V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	951					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAGGCCAGGCCATGTGCCTCA	0.450000														100			71		0	0	0.004672	0	0
DEGS1	8560	broad.mit.edu	37	1	224377583	224377583	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:224377583G>T	uc001hoj.3	+	1	516	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	129					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTATCACATGGATCATCATC	0.428000														166			6		0.00116845	0.00226878	0.001168	1	0
SERPINI2	5276	broad.mit.edu	37	3	167183320	167183320	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:167183320T>A	uc003fes.1	-	3	721	c.650A>T	c.(649-651)aAt>aTt	p.N217I	SERPINI2_uc003fer.1_Missense_Mutation_p.N207I|SERPINI2_uc003fet.1_Missense_Mutation_p.N207I	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	207					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGTTGAACCATTTTTCTTAGT	0.368000														16			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9066695	9066695	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:9066695C>T	uc002mkp.3	-	2	20955	c.20751G>A	c.(20749-20751)atG>atA	p.M6917I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6919	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGTATCCATTGGAGCTG	0.463000														130			21		0	0	0.003330	0	0
SPG20	23111	broad.mit.edu	37	13	36909411	36909411	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:36909411G>A	uc001uvn.3	-	2	827	c.557C>T	c.(556-558)tCc>tTc	p.S186F	SPG20_uc010ten.2_Missense_Mutation_p.S186F|SPG20_uc001uvm.3_Missense_Mutation_p.S186F|SPG20_uc001uvo.3_Missense_Mutation_p.S186F|SPG20_uc001uvq.3_Missense_Mutation_p.S186F|SPG20_uc001uvp.2_Missense_Mutation_p.S186F	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	186					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGTTCCATAGGATACAGTGTA	0.478000														20			9		0	0	0.000978	0	0
NDUFS7	374291	broad.mit.edu	37	19	1391044	1391045	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:1391044_1391045CG>TT	uc002lsf.2	+	5	704_705	c.595_596CG>TT	c.(595-597)cgc>TTc	p.R199F	NDUFS7_uc002lsh.3_Missense_Mutation_p.R199F|NDUFS7_uc002lsg.2_Missense_Mutation_p.R142F|NDUFS7_uc002lse.4_Missense_Mutation_p.R135F			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	135					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CCCAGCGCTTCGCAAGGTAGGC	0.688000														18			5		0	0	0.004672	0	0
GNA11	2767	broad.mit.edu	37	19	3114975	3114976	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3114975_3114976GG>AA	uc002lxd.3	+	3	752_753	c.510_511GG>AA	c.(508-513)ttgggc>ttAAgc	p.G171S		NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	171					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TCGCCACCTTGGGCTACCTGCC	0.668000			Mis		uveal melanoma									48			32		0	0	0.004672	0	0
CNOT1	23019	broad.mit.edu	37	16	58576341	58576341	+	Silent	SNP	T	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:58576341T>C	uc002env.3	-	31	4859	c.4566A>G	c.(4564-4566)agA>agG	p.R1522R	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.R1517R|CNOT1_uc010vik.2_Silent_p.R479R	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1522					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGTTGCTAATCTCTTGTCCA	0.378000														41			30		0	0	0.007291	0	0
GSPT2	23708	broad.mit.edu	37	X	51487452	51487452	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:51487452G>A	uc004dpl.3	+	0	972	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	244					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAAGCTAAGGAAAAAAACAG	0.428000														22			6		0	0	0.001984	0	0
ACPL2	92370	broad.mit.edu	37	3	141011771	141011772	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:141011771_141011772GG>AA	uc003etu.3	+	7	1466_1467	c.1167_1168GG>AA	c.(1165-1170)ttgggc>ttAAgc	p.G390S	ACPL2_uc003etv.3_Missense_Mutation_p.G390S|ACPL2_uc011bna.2_Missense_Mutation_p.G352S|ACPL2_uc011bnb.2_Missense_Mutation_p.G373S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	390						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCAGTGCCTTGGGCCTTTCAGA	0.535000														103			23		0	0	0.004672	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376191	30376191	+	Silent	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:30376191C>T	uc002hgu.3	+	9	2465	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	LRRC37B_uc010wbx.2_Silent_p.F736F|LRRC37B_uc010csu.3_Silent_p.F767F	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	818						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAGAAAGTTCATGTCTCATG	0.498000														22			24		0	0	0.006320	0	0
PSPC1	55269	broad.mit.edu	37	13	20279916	20279916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:20279916C>T	uc021rgx.1	-	8	1409	c.1272G>A	c.(1270-1272)atG>atA	p.M424I		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	424	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGTTCATATTCATACCCATCA	0.483000														79			13		0	0	0.003163	0	0
CLK2	1196	broad.mit.edu	37	1	155236673	155236674	+	Frame_Shift_Ins	INS	-	C	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155236673_155236674insC	uc001fjy.3	-	6	974_975	c.684_685insG	c.(682-687)cagatgfs	p.Q228fs	CLK2_uc001fjw.3_Frame_Shift_Ins_p.Q227fs|CLK2_uc001fjx.3_Start_Codon_Ins|CLK2_uc009wqm.3_Frame_Shift_Ins_p.Q228fs	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	228	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGTCAAACATCTGGACACAGA	0.505								Other conserved DNA damage response genes					---	25	---	---	11	---					
MIR663B	100313824	broad.mit.edu	37	2	133014651	133014652	+	Splice_Site	INS	-	C	C	rs150907057		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:133014651_133014652insC	uc021vpu.1	-	1		c.1_splice	c.e1-1		ANKRD30BL_uc002ttj.3_Intron					Homo sapiens microRNA 663b (MIR663B), microRNA.																		GGCCCTCGGCACCACCGAGACC	0.678													---	8	---	---	8	---					
PKHD1L1	93035	broad.mit.edu	37	8	110467060	110467061	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:110467060_110467061insA	uc003yne.3	+	44	6957_6958	c.6853_6854insA	c.(6853-6855)gagfs	p.E2285fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2285	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTGTGCGGGAGGGAATCCTG	0.515										HNSCC(38;0.096)			---	4	---	---	4	---					
KRT19P2	160313	broad.mit.edu	37	12	95228730	95228730	+	RNA	DEL	A	-	-			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:95228730delA	uc001tdk.2	+	0		c.557delA								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		TGGCAGAAACAGAGGCATGCT	0.572													---	4	---	---	2	---					
CMTM4	146223	broad.mit.edu	37	16	66656033	66656034	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:66656033_66656034insT	uc002epz.3	-	3	736_737	c.554_555insA	c.(553-555)aatfs	p.N185fs	CMTM4_uc002eqa.3_Frame_Shift_Ins_p.N185fs|CMTM4_uc021tjv.1_5'Flank	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant 1, mRNA.	185					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		GGATGTAGTCATTGGTGCTCTG	0.579													---	11	---	---	8	---