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
ENTPD3	956	broad.mit.edu	37	3	40468888	40468888	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr3:40468888C>A	uc003ckd.4	+	10	1571	c.1479C>A	c.(1477-1479)ttC>ttA	p.F493L	ENTPD3_uc010hhy.3_Missense_Mutation_p.F493L|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	493						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCCTCGCTTTCTTCACAGCGG	0.547000														29			17		9.16793e-09	9.90728e-09	1	1	0
CNRIP1	25927	broad.mit.edu	37	2	68544407	68544407	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr2:68544407A>C	uc002sek.4	-	1	863	c.212T>G	c.(211-213)cTg>cGg	p.L71R	CNRIP1_uc002sej.4_Missense_Mutation_p.L71R|CNRIP1_uc010fdd.1_Missense_Mutation_p.L71R	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	71							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTTCAGTTCCAGTGGGACAAG	0.483000														40			9		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147214	55147214	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr6:55147214C>A	uc003pcl.3	+	6	1612	c.1297C>A	c.(1297-1299)Cca>Aca	p.P433T	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	433					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCACACTCCCAGCAGCCAA	0.408000														23			3		2.56e-06	2.72254e-06	1	1	0
PPAP2B	8613	broad.mit.edu	37	1	57002733	57002733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr1:57002733C>T	uc001cyj.2	-	1	759	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	64					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GTAAAACCCTCGGTGGTAAGG	0.488000														28			15		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974838	49974838	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr11:49974838G>A	uc010rhz.2	+	0	896	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACACCTTGAGGAATGCTCAAA	0.383000														54			24		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284445	118284445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chrX:118284445C>T	uc004era.4	-	0	98	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	33										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						CCTGGCCCCTCGGTCCCTGGG	0.602000														10			26		0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114619817	114619817	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr7:114619817G>C	uc003vhf.3	+	3	1064	c.474G>C	c.(472-474)aaG>aaC	p.K158N		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	158					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TTTCCCAAAAGACAGGCTCTT	0.328000														56			13		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827615	110827615	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr13:110827615C>A	uc001vqw.4	-	36	3270	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1050	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCTGCCCTTTCTCTCCT	0.572000														30			5		8.12818e-05	8.50919e-05	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181813	57181813	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr4:57181813C>T	uc003hbk.2	+	7	2536	c.2145C>T	c.(2143-2145)gtC>gtT	p.V715V	KIAA1211_uc010iha.2_Silent_p.V708V|KIAA1211_uc011bzz.1_Silent_p.V625V|KIAA1211_uc003hbm.1_Silent_p.V601V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	715										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCGCCAGTCAATGCAAAGT	0.572000														86			11		0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15469761	15469761	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chrY:15469761A>T	uc022ckf.1	-	14	2570	c.1565T>A	c.(1564-1566)tTa>tAa	p.L522*	UTY_uc004fsw.1_Nonsense_Mutation_p.L88*|UTY_uc022cjk.1_Nonsense_Mutation_p.L173*|UTY_uc022cjp.1_Nonsense_Mutation_p.L173*|UTY_uc022ckv.1_Nonsense_Mutation_p.L425*|UTY_uc022cjq.1_Intron|UTY_uc022ckw.1_Nonsense_Mutation_p.L454*|UTY_uc022cjr.1_Nonsense_Mutation_p.L409*|UTY_uc022ckx.1_Nonsense_Mutation_p.L425*|UTY_uc022cjs.1_Nonsense_Mutation_p.L409*|UTY_uc022cky.1_Nonsense_Mutation_p.L253*|UTY_uc022cjt.1_Nonsense_Mutation_p.L173*|UTY_uc022ckz.1_Nonsense_Mutation_p.L258*|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_5'UTR|UTY_uc022cjv.1_Nonsense_Mutation_p.L342*|UTY_uc022clb.1_Nonsense_Mutation_p.L94*|UTY_uc022cjw.1_Nonsense_Mutation_p.L467*|UTY_uc022cjx.1_Nonsense_Mutation_p.L522*|UTY_uc022cjy.1_Intron|UTY_uc022cjz.1_Nonsense_Mutation_p.L470*|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_5'UTR|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Nonsense_Mutation_p.L470*|UTY_uc022ckh.1_Nonsense_Mutation_p.L173*|UTY_uc022cki.1_Nonsense_Mutation_p.L455*|UTY_uc022ckj.1_Nonsense_Mutation_p.L477*|UTY_uc022ckk.1_Nonsense_Mutation_p.L425*|UTY_uc022ckl.1_5'UTR|UTY_uc022ckm.1_Nonsense_Mutation_p.L500*|UTY_uc022ckn.1_Nonsense_Mutation_p.L425*|UTY_uc022cko.1_Nonsense_Mutation_p.L470*|UTY_uc022ckp.1_Nonsense_Mutation_p.L470*|UTY_uc004fsx.1_Nonsense_Mutation_p.L425*|UTY_uc022ckq.1_Nonsense_Mutation_p.L470*|UTY_uc022cjl.1_5'UTR|UTY_uc022ckr.1_Nonsense_Mutation_p.L71*|UTY_uc022cjm.1_Nonsense_Mutation_p.L470*|UTY_uc022cks.1_Nonsense_Mutation_p.L425*|UTY_uc022cjn.1_Nonsense_Mutation_p.L94*|UTY_uc022ckt.1_Nonsense_Mutation_p.L425*|UTY_uc022cjo.1_Nonsense_Mutation_p.L213*|UTY_uc022cku.1_Nonsense_Mutation_p.L173*|UTY_uc022clc.1_Nonsense_Mutation_p.L455*|UTY_uc022cld.1_Nonsense_Mutation_p.L425*|UTY_uc022cle.1_Nonsense_Mutation_p.L242*|UTY_uc022clf.1_Nonsense_Mutation_p.L425*|UTY_uc022clg.1_Nonsense_Mutation_p.L173*|UTY_uc022clh.1_Nonsense_Mutation_p.L392*|UTY_uc022cli.1_Nonsense_Mutation_p.L425*|UTY_uc022clj.1_Nonsense_Mutation_p.L173*|UTY_uc022clk.1_5'UTR|UTY_uc022cll.1_Nonsense_Mutation_p.L350*|UTY_uc022clm.1_Nonsense_Mutation_p.L77*|UTY_uc022cln.1_Nonsense_Mutation_p.L213*|UTY_uc022clo.1_Nonsense_Mutation_p.L425*|UTY_uc022clp.1_Nonsense_Mutation_p.L253*|UTY_uc022clq.1_Nonsense_Mutation_p.L395*|UTY_uc004fsy.3_Nonsense_Mutation_p.L425*|UTY_uc022clr.1_Nonsense_Mutation_p.L173*|UTY_uc022cls.1_Nonsense_Mutation_p.L454*|UTY_uc022clt.1_Nonsense_Mutation_p.L173*|UTY_uc022clu.1_Nonsense_Mutation_p.L409*|UTY_uc022clv.1_Nonsense_Mutation_p.L218*|UTY_uc022clw.1_Nonsense_Mutation_p.L500*|UTY_uc022clx.1_Nonsense_Mutation_p.L522*|UTY_uc022cly.1_Nonsense_Mutation_p.L470*|UTY_uc022clz.1_Nonsense_Mutation_p.L173*|UTY_uc022cma.1_Nonsense_Mutation_p.L213*|UTY_uc022cmb.1_Nonsense_Mutation_p.L71*|UTY_uc022cng.1_Nonsense_Mutation_p.L395*|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Nonsense_Mutation_p.L425*|UTY_uc022cmc.1_Non-coding_Transcript|UTY_uc022cmd.1_5'UTR|UTY_uc022cme.1_Non-coding_Transcript|UTY_uc022cmf.1_Nonsense_Mutation_p.L173*|UTY_uc022cmg.1_Nonsense_Mutation_p.L409*|UTY_uc022cmh.1_Nonsense_Mutation_p.L409*|UTY_uc022cmi.1_Nonsense_Mutation_p.L218*|UTY_uc022cmj.1_Nonsense_Mutation_p.L522*|UTY_uc022cmk.1_5'UTR|UTY_uc022cml.1_Nonsense_Mutation_p.L470*|UTY_uc022cmm.1_Nonsense_Mutation_p.L522*|UTY_uc022cmn.1_Nonsense_Mutation_p.L470*|UTY_uc022cmo.1_Nonsense_Mutation_p.L140*|UTY_uc022cmp.1_Non-coding_Transcript|UTY_uc022cmq.1_Non-coding_Transcript|UTY_uc022cmr.1_Nonsense_Mutation_p.L455*|UTY_uc022cms.1_Nonsense_Mutation_p.L392*|UTY_uc022cmt.1_Nonsense_Mutation_p.L425*|UTY_uc022cmu.1_Nonsense_Mutation_p.L392*|UTY_uc022cmv.1_Nonsense_Mutation_p.L392*|UTY_uc022cmw.1_Nonsense_Mutation_p.L197*|UTY_uc022cmx.1_Nonsense_Mutation_p.L197*|UTY_uc022cmy.1_Nonsense_Mutation_p.L213*|UTY_uc022cmz.1_Nonsense_Mutation_p.L180*|UTY_uc022cna.1_Nonsense_Mutation_p.L220*|UTY_uc022cnb.1_Nonsense_Mutation_p.L180*|UTY_uc022cnc.1_Nonsense_Mutation_p.L94*|UTY_uc022cnd.1_Nonsense_Mutation_p.L492*|UTY_uc022cne.1_Non-coding_Transcript|UTY_uc022cnf.1_Nonsense_Mutation_p.L395*|UTY_uc022cni.1_Nonsense_Mutation_p.L157*|UTY_uc022cnj.1_Nonsense_Mutation_p.L173*|UTY_uc022cnk.1_Nonsense_Mutation_p.L409*|UTY_uc022cnl.1_Nonsense_Mutation_p.L422*|UTY_uc022cnm.1_Nonsense_Mutation_p.L477*|UTY_uc022cnn.1_Nonsense_Mutation_p.L425*|UTY_uc022cno.1_Nonsense_Mutation_p.L392*|UTY_uc022cnp.1_Nonsense_Mutation_p.L425*|UTY_uc022cnq.1_Nonsense_Mutation_p.L425*|UTY_uc022cnr.1_Nonsense_Mutation_p.L180*|UTY_uc022cns.1_Intron|UTY_uc022cnt.1_Nonsense_Mutation_p.L197*|UTY_uc022cnu.1_Nonsense_Mutation_p.L500*|UTY_uc022cnv.1_Nonsense_Mutation_p.L455*|UTY_uc022cnw.1_Nonsense_Mutation_p.L425*|UTY_uc022cnx.1_Nonsense_Mutation_p.L213*|UTY_uc022cny.1_Intron|UTY_uc022cnz.1_Intron|UTY_uc022coa.1_Nonsense_Mutation_p.L364*|UTY_uc022cob.1_Nonsense_Mutation_p.L225*|UTY_uc022coc.1_Nonsense_Mutation_p.L310*|UTY_uc022cod.1_Nonsense_Mutation_p.L265*	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	425					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TCATACCTGTAATTTCTGTGG	0.343000														2			8		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221895	44221895	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:44221895C>T	uc003bee.1	-	6	957	c.841G>A	c.(841-843)Gac>Aac	p.D281N	SULT4A1_uc021wqv.1_Non-coding_Transcript|SULT4A1_uc003bed.1_Missense_Mutation_p.D202N|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Missense_Mutation_p.D168N	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	281					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AAATAAAAGTCAAACGTGAGG	0.413000														271			139		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														26			5		0.014758	0.0149816	1	1	0
GANC	2595	broad.mit.edu	37	15	42632949	42632949	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr15:42632949C>T	uc001zpi.3	+	17	2463	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	717					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGAATACATGCTGGGTGAGCA	0.403000														26			18		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12224814	12224814	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr3:12224814C>G	uc003bwm.3	+	13	1463	c.1299C>G	c.(1297-1299)agC>agG	p.S433R	SYN2_uc003bwl.1_Missense_Mutation_p.S433R|SYN2_uc003bwn.3_Missense_Mutation_p.S111R	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	437					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCTTCCAGAGCGGAACACTTA	0.488000														9			4		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29688155	29688155	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:29688155C>T	uc003aet.3	+	9	1370	c.1042C>T	c.(1042-1044)Cta>Tta	p.L348L	EWSR1_uc003aev.3_Silent_p.L353L|EWSR1_uc003aex.3_Silent_p.L347L|EWSR1_uc003aew.3_Silent_p.L292L|EWSR1_uc003aey.3_Silent_p.L143L|EWSR1_uc003aez.3_Silent_p.L9L	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	348		Breakpoint for insertion to form EWSR1- FEV fusion protein.			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATCTTGATCTAGGTAATTT	0.388000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									34			25		0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622049	29622049	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr17:29622049A>G	uc002hgj.3	-	1	1514	c.1301T>C	c.(1300-1302)gTt>gCt	p.V434A	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Missense_Mutation_p.V434A	NM_002544	NP_002535	P23515	OMGP_HUMAN	Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA.	434					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		CATGACCACAACATTGAGCAA	0.408000														41			7		0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3189774	3189774	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr10:3189774C>G	uc009xhv.2	-	18	2297	c.2228G>C	c.(2227-2229)gGg>gCg	p.G743A	PITRM1_uc001igr.2_Missense_Mutation_p.G742A|PITRM1_uc001igt.2_Missense_Mutation_p.G742A|PITRM1_uc010qah.2_Missense_Mutation_p.G644A|PITRM1_uc001igu.1_Missense_Mutation_p.G668A|PITRM1_uc010qai.2_Missense_Mutation_p.G713A|LOC100507034_uc001igv.2_Non-coding_Transcript	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	644					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGATCCATCCCGCTGAAGGT	0.527000														87			10		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36116626	36116626	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:36116626G>C	uc003aof.3	+	1	67	c.67G>C	c.(67-69)Ggt>Cgt	p.G23R		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	23					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	p.G23V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTTGGGAGAAGGTTGTAAAGA	0.502000														19			8		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328584	38328584	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38328584G>A	uc003aui.3	+	10	2316	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	681						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GTACATCCCTGAGGAGGACAT	0.632000														93			29		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216549	170216549	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr3:170216549C>T	uc003fgz.2	-	3	982	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	222						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCATACTGCCAGGTTCAGCA	0.517000														42			3		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117246759	117246759	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr6:117246759G>T	uc003pxm.3	+	15	1885	c.1822G>T	c.(1822-1824)Gga>Tga	p.G608*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	608					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGTCAACCTGGAGGCCTAGG	0.547000														26			7		0.0293803	0.0293803	1	1	0
TNN	63923	broad.mit.edu	37	1	175092773	175092773	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr1:175092773A>C	uc001gkl.1	+	11	3001	c.2888A>C	c.(2887-2889)aAg>aCg	p.K963T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	963	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGGAGAGCAAGAAGGCTGAC	0.622000														25			14		0	0	1	0	0
PMS2P1	5379	broad.mit.edu	37	7	99930068	99930068	+	RNA	SNP	T	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr7:99930068T>C	uc003uuh.2	-	1		c.607A>G			PMS2P1_uc003uui.2_Non-coding_Transcript|PMS2P1_uc010lgv.1_Non-coding_Transcript|PMS2P1_uc003uuj.1_Non-coding_Transcript|PMS2P1_uc022aik.1_Intron					Homo sapiens postmeiotic segregation increased 2 pseudogene 1 (PMS2P1), non-coding RNA.											endometrium(1)|lung(3)	4						AACTTACCAATATTAGTGGCA	0.413000														111			6		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328608	38328608	+	Missense_Mutation	SNP	G	A	A	rs142424154		TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38328608G>A	uc003aui.3	+	10	2340	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	689						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGAGAGATGGATACCATTGA	0.657000														81			21		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566384	41566384	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr8:41566384G>A	uc003xok.3	-	16	1994	c.1910C>T	c.(1909-1911)aCg>aTg	p.T637M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.T637M|ANK1_uc003xoj.3_Missense_Mutation_p.T637M|ANK1_uc003xol.3_Missense_Mutation_p.T637M|ANK1_uc003xom.3_Missense_Mutation_p.T670M	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	637	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGAAGGGGCGTCACACCTTG	0.622000														59			30		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62663321	62663321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr20:62663321G>A	uc002yho.3	+	19	2765	c.2597G>A	c.(2596-2598)cGc>cAc	p.R866H	PRPF6_uc002yhp.3_Missense_Mutation_p.R826H|LINC00176_uc002yhq.3_5'Flank|LINC00176_uc011abq.2_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	866					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGGTTCCACCGCACTGTGAAG	0.592000														109			4		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328586	38328586	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38328586G>A	uc003aui.3	+	10	2318	c.2043G>A	c.(2041-2043)gaG>gaA	p.E681E		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	681						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACATCCCTGAGGAGGACATCC	0.637000														94			29		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585751	20585751	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr14:20585751C>T	uc001vwo.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGCCCTCTTCTCGGTTATCT	0.413000														117			8		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39770401	39770401	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:39770401C>T	uc003axq.4	+	1	242	c.180C>T	c.(178-180)atC>atT	p.I60I	TAB1_uc003axo.4_Silent_p.I60I|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.I61I	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGTTCTGCATCTACAACCGCA	0.642000														129			85		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46679259	46679259	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr6:46679259C>A	uc010jzf.3	-	6	906	c.637G>T	c.(637-639)Gag>Tag	p.E213*	PLA2G7_uc021zae.1_Nonsense_Mutation_p.E213*|PLA2G7_uc011dwd.1_Nonsense_Mutation_p.E168*|PLA2G7_uc011dwe.1_Nonsense_Mutation_p.E86*	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	213					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTGTCTCCTCCTCTTGTTTC	0.408000														53			24		3.5997e-14	4.01966e-14	1	1	0
CCR4	1233	broad.mit.edu	37	3	32994926	32994926	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr3:32994926G>A	uc003cfg.1	+	1	180	c.12G>A	c.(10-12)acG>acA	p.T4T	CCR4_uc021wuw.1_Silent_p.T4T	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	4					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGAACCCCACGGATATAGCAG	0.468000														20			6		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138774	138774	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chrGL000213.1:138774C>G	uc011mfl.1	-	0	562	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TACCTCTTTTCCTTGTCCCTC	0.582000														34			4		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396865	55396865	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr19:55396865C>T	uc002qhr.1	+	2	486	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R97C|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.R70C|FCAR_uc010esi.1_Missense_Mutation_p.R70C|FCAR_uc002qhu.1_Missense_Mutation_p.R97C|FCAR_uc002qhv.1_Missense_Mutation_p.R97C|FCAR_uc002qhw.1_Missense_Mutation_p.R85C|FCAR_uc002qhx.1_Missense_Mutation_p.R85C|FCAR_uc002qhy.1_Missense_Mutation_p.R85C|FCAR_uc002qhz.1_Missense_Mutation_p.R85C|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.R97G(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAAGGCAGGGCGCTATCAGTG	0.502000														15			6		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38329058	38329058	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38329058G>A	uc003aui.3	+	12	2522	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	749						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCAAGCAGCAGAACCTGGAGC	0.602000														90			54		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36832163	36832163	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr19:36832163G>A	uc010xtd.2	-	3	647	c.568C>T	c.(568-570)Caa>Taa	p.Q190*	ZFP14_uc010eex.2_Nonsense_Mutation_p.Q189*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCAGGTGTTGACTAAGTGTT	0.408000														92			12		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1853779	1853779	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr1:1853779C>G	uc001aik.3	-	10	1715	c.865G>C	c.(865-867)Gtg>Ctg	p.V289L	C1orf222_uc001ail.3_Missense_Mutation_p.V289L			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	289										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCTCCTTCACATCCCCCCTT	0.617000														37			17		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152623200	152623200	+	Splice_Site	SNP	T	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr6:152623200T>C	uc021zhb.1	-	90	17570	c.17347_splice	c.e90-1	p.E5783_splice	SYNE1_uc003qos.4_Splice_Site_p.E307_splice|SYNE1_uc003qot.4_Splice_Site_p.E5712_splice|SYNE1_uc003qou.4_Splice_Site_p.E5783_splice|SYNE1_uc010kiy.1_Missense_Mutation_p.Q4R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5783					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCCAGCTCCTGAGGAAACAT	0.532000										HNSCC(10;0.0054)				32			23		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603718	47603718	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr11:47603718G>C	uc001nga.2	+	4	542	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	NDUFS3_uc001nft.3_Missense_Mutation_p.E133Q	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	154					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GACGCCCATTGAGTCTGCTGT	0.522000														75			6		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18627601	18627601	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chrX:18627601A>G	uc004cym.3	+	13	2316	c.2063A>G	c.(2062-2064)gAc>gGc	p.D688G	CDKL5_uc004cyn.3_Missense_Mutation_p.D688G|CDKL5_uc022btn.1_Missense_Mutation_p.D679G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	688					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGTATCATGACCCACACTCT	0.438000														3			32		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328830	38328830	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38328830G>A	uc003aui.3	+	11	2444	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	723						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACATGCTGGTGGACTGGTTCA	0.622000														70			30		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245160	238245160	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr2:238245160G>A	uc002vwl.2	-	39	8868	c.8583C>T	c.(8581-8583)aaC>aaT	p.N2861N	COL6A3_uc002vwo.2_Silent_p.N2655N|COL6A3_uc010znj.1_Silent_p.N2254N|COL6A3_uc002vwj.2_Silent_p.N242N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2861	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAAGTAACGTTATTCGGAA	0.398000														28			39		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43603548	43603548	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:43603548T>A	uc003bdt.2	-	20	2933	c.2806A>T	c.(2806-2808)Att>Ttt	p.I936F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	936					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACTTTCAAAATTTCCTGGTGG	0.607000														184			11		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740400	32740400	+	Silent	SNP	G	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr1:32740400G>T	uc001bux.3	+	2	306	c.168G>T	c.(166-168)ccG>ccT	p.P56P	LCK_uc001buy.3_Silent_p.P56P|LCK_uc001buz.3_Silent_p.P56P|LCK_uc010ohc.1_Silent_p.P100P|LCK_uc001bva.3_Silent_p.P56P	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	56	Interactions with CD4 and CD8 (By similarity).				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GCTCCAATCCGCCGGCTTCCC	0.617000			T	TRB@	T-ALL									16			11		6.42651e-13	7.05863e-13	1	1	0
PNKP	11284	broad.mit.edu	37	19	50365526	50365526	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr19:50365526G>A	uc002pqj.3	-	11	1152	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PNKP_uc002pqg.3_Missense_Mutation_p.R129C|PNKP_uc002pqi.3_Missense_Mutation_p.R309C|PNKP_uc021uxx.1_Missense_Mutation_p.R348C	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	348					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGCCCTGAGCGGGAGACAGTC	0.716000								Other BER factors						3			6		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87810828	87810828	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr7:87810828G>A	uc003ujn.3	+	27	2632	c.2417G>A	c.(2416-2418)gGg>gAg	p.G806E	ADAM22_uc003ujk.2_Missense_Mutation_p.G806E|ADAM22_uc003ujl.2_Missense_Mutation_p.G770E|ADAM22_uc003ujm.3_Missense_Mutation_p.G770E|ADAM22_uc003ujo.3_Missense_Mutation_p.G770E|ADAM22_uc003ujp.1_Missense_Mutation_p.G858E	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	806					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTCAAATGGGCTCTCTCAT	0.368000														21			17		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634218	84634218	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chrX:84634218G>A	uc004eer.2	-	1	388	c.242C>T	c.(241-243)aCc>aTc	p.T81I	POF1B_uc004ees.3_Missense_Mutation_p.T81I	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	81							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GTAGGAGGAGGTGGTTTTGAG	0.507000														10			5		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47022726	47022726	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:47022726C>G	uc003bhx.3	+	0	79	c.30C>G	c.(28-30)ttC>ttG	p.F10L		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	10					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATCAGGTTCAGAGGTCACA	0.552000														206			46		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139536	90139536	+	RNA	SNP	G	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr2:90139536G>T	uc010yts.2	+	30		c.3594G>T								Parts of antibodies, mostly variable regions.																		CCTGCAGCCTGAAGATTTTGC	0.493000														67			4		0.00116845	0.0012044	1	1	0
DQ572979	0	broad.mit.edu	37	15	31092951	31092951	+	Splice_Site	SNP	G	A	A	rs34190638	by1000genomes	TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr15:31092951G>A	uc001zfb.3	-	1		c.33_splice	c.e1+1		DQ595055_uc001zfa.3_5'Flank|JA429730_uc021shx.1_5'Flank|DQ596686_uc021shy.1_5'Flank					Homo sapiens piRNA piR-41091, complete sequence.																		ACCCCTTCTGGGAGCCAGTGG	0.567000														9			3		0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204154579	204154579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr2:204154579C>T	uc010zif.2	+	9	1709	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	CYP20A1_uc002uzv.4_Nonsense_Mutation_p.R355*|CYP20A1_uc002uzx.4_Nonsense_Mutation_p.R253*|CYP20A1_uc002uzy.4_Nonsense_Mutation_p.R253*|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Nonsense_Mutation_p.R85*	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	355						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAAAATTGACCGATTTATTAT	0.333000														26			13		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328629	38328629	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:38328629G>A	uc003aui.3	+	10	2361	c.2086G>A	c.(2086-2088)Gat>Aat	p.D696N		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	696						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCGCCGGCTGGATGCCCTGGA	0.672000														65			13		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416245	86416245	+	Silent	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr7:86416245C>T	uc003uid.3	+	2	2236	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	GRM3_uc010lef.3_Silent_p.I377I|GRM3_uc010leg.3_Silent_p.I251I|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	379					synaptic transmission	integral to plasma membrane		p.I379M(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCTGGCCATCGACAGCAGCA	0.567000														7			29		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36124892	36124892	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:36124892C>G	uc003aof.3	+	3	1249	c.1249C>G	c.(1249-1251)Cca>Gca	p.P417A		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	417					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CCAGCCAGCCCCACCAGCACC	0.627000														62			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059510	9059510	+	Silent	SNP	C	G	G			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr19:9059510C>G	uc002mkp.3	-	2	28140	c.27936G>C	c.(27934-27936)gtG>gtC	p.V9312V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9314	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGTGGGCACACTAGAAA	0.502000														82			5		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015647	130015647	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr12:130015647C>T	uc009zyl.1	-	2	1400	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	358						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGATGACAGCTGGTGCATAC	0.498000														28			5		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388513	48388513	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr10:48388513A>T	uc001jez.3	-	0	2479	c.2365T>A	c.(2365-2367)Tac>Aac	p.Y789N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	789	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCGTGGAGTAGCTGCCAGGG	0.617000														4			13		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367699	142367699	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr8:142367699G>A	uc022bby.1	-	0	325	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	GPR20_uc003ywf.3_Missense_Mutation_p.R109C	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	109						integral to plasma membrane	G-protein coupled receptor activity	p.T108T(1)|p.R109H(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACAGCGAAGCGCGTGGGCAGG	0.617000														68			17		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36116679	36116679	+	Silent	SNP	G	A	A			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr22:36116679G>A	uc003aof.3	+	1	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	40					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	p.G40E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTCTGGGGGAAGTCCccag	0.512000														15			3		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395674	49395679	+	In_Frame_Del	DEL	GCCGCC	-	-	rs56041243		TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr3:49395674_49395679delGCCGCC	uc021wxw.1	-	0	113_118	c.33_38delGGCGGC	c.(31-39)gcggcggcc>gcc	p.11_13AAA>A	GPX1_uc021wxx.1_In_Frame_Del_p.11_13AAA>A	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	11					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity	p.A12_A13delAA(2)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccgccg	0.694													---	4	---	---	3	---					
MYO10	4651	broad.mit.edu	37	5	16764407	16764408	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr5:16764407_16764408insT	uc003jft.4	-	11	1745_1746	c.1277_1278insA	c.(1276-1278)gacfs	p.D426fs	MYO10_uc010itx.3_Frame_Shift_Ins_p.D49fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	426	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAGACTTGAAGTCCTCATTGCC	0.470													---	1091	---	---	11	---					
HR	55806	broad.mit.edu	37	8	21977633	21977633	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr8:21977633delC	uc003xas.3	-	12	3495	c.2830delG	c.(2830-2832)gatfs	p.D944fs	HR_uc003xat.3_Frame_Shift_Del_p.D944fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	944							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGTCCTCATCCCCCAAAGCT	0.657													---	4	---	---	2	---					
OVOS2	0	broad.mit.edu	37	12	31270080	31270081	+	In_Frame_Ins	INS	-	AAA	AAA	rs112314315		TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr12:31270080_31270081insAAA	uc010sjy.1	-	27	3788_3789	c.3788_3789insTTT	c.(3787-3789)atc>atTTTc	p.1263_1264insF	OVOS2_uc001rjy.3_Intron|OVOS2_uc001rjz.3_Intron					RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGTTAAACTGGATCTCACTGGA	0.505													---	7	---	---	6	---					
C12orf51	283450	broad.mit.edu	37	12	112622883	112622885	+	In_Frame_Del	DEL	GAG	-	-			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr12:112622883_112622885delGAG	uc021reb.1	-	60	9879_9881	c.9483_9485delCTC	c.(9481-9486)tcctcg>tcg	p.3161_3162SS>S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGGGGAGGACGAGGAGGAGGAGG	0.601													---	4	---	---	2	---					
NF1	4763	broad.mit.edu	37	17	29527570	29527571	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A4F4-06A-12D-A25O-08	TCGA-FS-A4F4-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64DB7DA9-EAC4-4C57-9263-606F4693D72F	40B28800-15B2-4DAA-BDEA-491C7F5CDED9	g.chr17:29527570_29527571insT	uc002hgg.3	+	8	1402_1403	c.1019_1020insT	c.(1018-1020)tctfs	p.S340fs	NF1_uc002hge.2_Frame_Shift_Ins_p.S340fs|NF1_uc002hgf.2_Frame_Shift_Ins_p.S340fs|NF1_uc002hgh.3_Frame_Shift_Ins_p.S340fs|NF1_uc010csn.2_Frame_Shift_Ins_p.S200fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	340					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTCC	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	20	---	---	12	---					
