Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CELF4	56853	broad.mit.edu	37	18	34833849	34833849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:34833849C>T	ENST00000420428.2	-	12	1781	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	CELF4_ENST00000591282.1_Missense_Mutation_p.M462I|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Missense_Mutation_p.M460I|CELF4_ENST00000603232.1_Missense_Mutation_p.M461I|CELF4_ENST00000412753.1_Missense_Mutation_p.M461I|CELF4_ENST00000591287.1_Missense_Mutation_p.M460I|CELF4_ENST00000601019.1_Missense_Mutation_p.M460I|CELF4_ENST00000334919.5_Missense_Mutation_p.M424I	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	462	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGAAGCCGTTCATGGCCTGGA	0.692000													9	75					0	0	0.010729	0	0
SF3B1	23451	broad.mit.edu	37	2	198299715	198299715	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:198299715C>T	ENST00000335508.5	-	1	100	c.9G>A	c.(7-9)aaG>aaA	p.K3K	SF3B1_ENST00000487698.1_Silent_p.K3K|SF3B1_ENST00000409915.4_Silent_p.K3K|SF3B1_ENST00000414963.2_Silent_p.K3K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	3					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGCGATCTTCGCCATTT	0.517000			Mis		myelodysplastic syndrome								5	62					0	0	0.014758	0	0
RBM4	5936	broad.mit.edu	37	11	66407347	66407347	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66407347G>A	ENST00000409406.1	+	1	942	c.165G>A	c.(163-165)ctG>ctA	p.L55L	RBM4_ENST00000530235.1_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000408993.2_Silent_p.L55L|RBM4_ENST00000483858.1_Silent_p.L55L|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000398692.4_Silent_p.L55L|RBM4_ENST00000396053.4_Silent_p.L55L|RBM4_ENST00000503028.2_Silent_p.L55L|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Silent_p.L55L|RBM4_ENST00000310092.7_Silent_p.L55L|RBM4_ENST00000532968.1_Silent_p.L55L|RBM4_ENST00000578778.1_Silent_p.L55L					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TACGCAACCTGCACCATTACA	0.478000													20	168					0	0	0.030593	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681032	73681032	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:73681032G>A	ENST00000339764.1	+	8	1575	c.824G>A	c.(823-825)gGg>gAg	p.G275E	DNAJB13_ENST00000543947.1_Missense_Mutation_p.G100E|DNAJB13_ENST00000537753.1_Missense_Mutation_p.G100E|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	275					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AAGGTGCCAGGGGAGGGGATG	0.542000													10	162					0	0	0.010729	0	0
CEP78	84131	broad.mit.edu	37	9	80858414	80858414	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:80858414G>A	ENST00000424347.2	+	5	929	c.640G>A	c.(640-642)Gag>Aag	p.E214K	CEP78_ENST00000415759.2_Missense_Mutation_p.E214K|CEP78_ENST00000376597.4_Missense_Mutation_p.E214K|CEP78_ENST00000376598.2_Missense_Mutation_p.E214K|CEP78_ENST00000277082.5_Missense_Mutation_p.E214K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	214					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AACCTGGGCTGAGAGTCTTCG	0.403000													7	49					0	0	0.029380	0	0
DYTN	391475	broad.mit.edu	37	2	207530693	207530693	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:207530693C>T	ENST00000452335.2	-	10	1157	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	347						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCTTTCTTCCTGGGAGGTGT	0.408000													10	74					0	0	0.006214	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAGAAGGATGAAACACAAAA	0.428000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	28					0	0	0.038147	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417209	105417209	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105417209C>T	ENST00000333244.5	-	7	4698	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1527						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)			GGGAGGCTCACGTCGGCCTCC	0.622000													6	247					0	0	0.049695	0	0
RP1	6101	broad.mit.edu	37	8	55542326	55542326	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:55542326A>G	ENST00000220676.1	+	4	6032	c.5884A>G	c.(5884-5886)Aca>Gca	p.T1962A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1962					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)			TTTACTTCAGACAGACAAAAA	0.318000													5	44					0	0	0.014758	0	0
CNGA3	1261	broad.mit.edu	37	2	99013345	99013345	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:99013345T>C	ENST00000393504.1	+	8	2129	c.1712T>C	c.(1711-1713)aTt>aCt	p.I571T	CNGA3_ENST00000272602.2_Missense_Mutation_p.I571T|CNGA3_ENST00000409937.1_Missense_Mutation_p.I575T|CNGA3_ENST00000436404.2_Missense_Mutation_p.I553T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	571					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATCCGCAGCATTGGCTACTCA	0.587000													19	134					0	0	0.043863	0	0
PTCH1	5727	broad.mit.edu	37	9	98268846	98268846	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:98268846C>G	ENST00000430669.2	-	2	624	c.39G>C	c.(37-39)ctG>ctC	p.L13L	PTCH1_ENST00000437951.1_Silent_p.L13L|PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000468211.2_Silent_p.L13L|PTCH1_ENST00000331920.6_Silent_p.L79L|PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000375274.2_Silent_p.L78L|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000421141.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	79					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592000													4	40					0	0	0.014758	0	0
ARID1B	57492	broad.mit.edu	37	6	157256619	157256619	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:157256619A>G	ENST00000346085.5	+	5	1947	c.1946A>G	c.(1945-1947)tAt>tGt	p.Y649C	ARID1B_ENST00000275248.4_Missense_Mutation_p.Y578C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y636C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y636C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	636					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGAAGGCTATGGAACTAGA	0.363000													13	92					0	0	0.020292	0	0
PTPRS	5802	broad.mit.edu	37	19	5212212	5212212	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:5212212C>G	ENST00000372412.4	-	32	5055	c.4822G>C	c.(4822-4824)Gag>Cag	p.E1608Q	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1587Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1160Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1607Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1569Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1607Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1569Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1160Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1607	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGATCCGCTCAAGCATGGCG	0.622000													4	84					0	0	0.009096	0	0
ACSL4	2182	broad.mit.edu	37	X	108926545	108926545	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:108926545A>G	ENST00000340800.2	-	4	675	c.171T>C	c.(169-171)agT>agC	p.S57S	ACSL4_ENST00000348502.6_Silent_p.S16S|ACSL4_ENST00000469796.2_Silent_p.S57S	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	57					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGCGATATGGACTTCCAGGTT	0.403000													5	190					0	0	0.021553	0	0
NUP54	53371	broad.mit.edu	37	4	77057369	77057369	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:77057369G>A	ENST00000264883.3	-	4	632	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Silent_p.F116F	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	164	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTTCTTGTGTGAATTCCACTG	0.323000													5	61					0	0	0.021553	0	0
RBP3	5949	broad.mit.edu	37	10	48387946	48387946	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48387946C>G	ENST00000224600.4	-	1	3045	c.2932G>C	c.(2932-2934)Gaa>Caa	p.E978Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	978	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)	AGGGCCACTTCTGAGGTCACC	0.617000													6	91					0	0	0.029380	0	0
POMGNT1	55624	broad.mit.edu	37	1	46660524	46660524	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:46660524C>T	ENST00000371992.1	-	7	1294	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	POMGNT1_ENST00000371984.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000396420.3_Intron|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R193Q	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	215					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTCCTTTTCGTCCCACGAA	0.617000													37	223					0	0	0.027894	0	0
RAVER2	55225	broad.mit.edu	37	1	65278428	65278428	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:65278428C>G	ENST00000294428.3	+	10	1766	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.S550C			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	563						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAGGCTGCCTCTAAGAATCAA	0.348000													4	41					0	0	0.009096	0	0
GPR26	2849	broad.mit.edu	37	10	125426416	125426416	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:125426416G>A	ENST00000284674.1	+	1	546	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	165					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGGCCAGACGAGCGCCTGCG	0.677000													6	23					0	0	0.029380	0	0
ANGPT4	51378	broad.mit.edu	37	20	870886	870886	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:870886C>T	ENST00000381922.3	-	2	537	c.435G>A	c.(433-435)caG>caA	p.Q145Q	ANGPT4_ENST00000546022.1_Silent_p.Q145Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	145					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTTGCGGATCTGGGCAGTGG	0.622000													3	43					0	0	0.004672	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	33					0	0	0.009096	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548096	120548096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120548096G>A	ENST00000256646.2	-	3	490	c.271C>T	c.(271-273)Cga>Tga	p.R91*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.R52*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	91	EGF-like 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACATCGGCACGTGGCT	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	112					0	0	0.013537	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159467	123159467	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:123159467G>A	ENST00000264501.4	+	28	4168	c.3795G>A	c.(3793-3795)gaG>gaA	p.E1265E	KIAA1109_ENST00000455637.1_Silent_p.E1265E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.E1265E			Q2LD37	K1109_HUMAN	KIAA1109	1265					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCAAAAAGAGTTCTTGCATG	0.388000													8	60					0	0	0.038147	0	0
PASD1	139135	broad.mit.edu	37	X	150828296	150828296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:150828296C>T	ENST00000370357.4	+	10	1074	c.829C>T	c.(829-831)Cct>Tct	p.P277S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383000													4	45					0	0	0.009096	0	0
OPA3	80207	broad.mit.edu	37	19	46057068	46057068	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057068C>G	ENST00000263275.4	-	2	298	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	OPA3_ENST00000544371.1_Missense_Mutation_p.E29Q|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	82					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCAGCAGCTCTGCGCCCAGC	0.657000													7	30					0	0	0.029380	0	0
CSMD3	114788	broad.mit.edu	37	8	113662457	113662457	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:113662457C>G	ENST00000297405.5	-	19	3370	c.3126G>C	c.(3124-3126)ttG>ttC	p.L1042F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L938F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1002F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1042F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1042	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCATGACTCAACCTGTATC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	108					0	0	0.004672	0	0
LNPEP	4012	broad.mit.edu	37	5	96314945	96314945	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96314945T>C	ENST00000231368.5	+	2	815	c.123T>C	c.(121-123)ccT>ccC	p.P41P	LNPEP_ENST00000395770.3_Silent_p.P27P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	41					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTAGAGCCTGATGAGGTGG	0.502000													3	111					0	0	0.004672	0	0
CRTC3	64784	broad.mit.edu	37	15	91172509	91172509	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:91172509C>T	ENST00000420329.2	+	11	1158	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CRTC3_ENST00000268184.6_Silent_p.L337L|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	337					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCACGCTCAATAAGACTG	0.448000			T	MAML2	salivary gland mucoepidermoid								17	126					0	0	0.028581	0	0
SOGA2	23255	broad.mit.edu	37	18	8718593	8718593	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:8718593G>C	ENST00000359865.3	+	3	287	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	SOGA2_ENST00000400050.3_Missense_Mutation_p.E49Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E49Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E409Q|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	400																	GAAAGTGGCTGAGACGGGTCA	0.577000													8	57					0	0	0.038147	0	0
QRICH2	84074	broad.mit.edu	37	17	74287504	74287504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:74287504G>A	ENST00000262765.5	-	4	2985	c.2806C>T	c.(2806-2808)Ctc>Ttc	p.L936F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	936							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTCAAAGAGAGAGAAAGCA	0.507000													6	58					0	0	0.021553	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278221	29278221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:29278221C>T	ENST00000266943.6	-	5	1529	c.1160G>A	c.(1159-1161)tGt>tAt	p.C387Y	SLC46A3_ENST00000380814.4_Missense_Mutation_p.C387Y|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	387					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAAAGCAATACAAGCAAACAG	0.398000													5	70					0	0	0.014758	0	0
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726000													10	56					0	0	0.008291	0	0
PHC2	1912	broad.mit.edu	37	1	33832909	33832909	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:33832909G>A	ENST00000257118.5	-	6	837	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	PHC2_ENST00000419414.2_Silent_p.L262L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.L233L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	262					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGTAGGCAGAGGCTGGCTA	0.632000											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	129					0	0	0.029380	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102039977	102039977	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:102039977G>A	ENST00000441611.1	-	3	389	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	BLOC1S2_ENST00000370372.2_Silent_p.L101L			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	101					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TAAGGCTGCAGTCCAGCATCT	0.363000													3	59					0	0	0.004672	0	0
ZNF544	27300	broad.mit.edu	37	19	58773055	58773055	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58773055A>G	ENST00000269829.4	+	7	1557	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K	ZNF544_ENST00000600220.1_Silent_p.K333K|ZNF544_ENST00000596652.1_Silent_p.K361K|ZNF544_ENST00000600044.1_Silent_p.K333K|ZNF544_ENST00000415203.2_Silent_p.K333K|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.K219K|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTGTGGAAAATCTTTCAGCT	0.458000													8	54					0	0	0.047766	0	0
DOCK7	85440	broad.mit.edu	37	1	63003606	63003606	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:63003606G>T	ENST00000251157.5	-	28	3460	c.3427C>A	c.(3427-3429)Cca>Aca	p.P1143T	DOCK7_ENST00000340370.5_Missense_Mutation_p.P1112T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1143					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATGCAGGTGGAGTAAGTAAG	0.393000													5	47					0.000602214	0.000641866	0.014758	1	0
TPI1	7167	broad.mit.edu	37	12	6976707	6976707	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:6976707C>T	ENST00000229270.4	+	1	425	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0				NA -> QG (in Ref. 1; AA sequence).	fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGACACTGACCTTCAGCGCCT	0.652000													7	14					0	0	0.029380	0	0
MADD	8567	broad.mit.edu	37	11	47317523	47317523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:47317523G>A	ENST00000342922.4	+	22	3919	c.3562G>A	c.(3562-3564)Gag>Aag	p.E1188K	MADD_ENST00000406482.1_Missense_Mutation_p.E1145K|MADD_ENST00000402799.1_Missense_Mutation_p.E1145K|MADD_ENST00000405573.2_Missense_Mutation_p.E36K|MADD_ENST00000407859.3_Missense_Mutation_p.E1165K|MADD_ENST00000395344.3_Missense_Mutation_p.E1141K|MADD_ENST00000311027.5_Missense_Mutation_p.E1226K|MADD_ENST00000395336.3_Missense_Mutation_p.E1226K|MADD_ENST00000349238.3_Missense_Mutation_p.E1208K|MADD_ENST00000402192.2_Missense_Mutation_p.E1187K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1226	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCAGGTGGCGAGGGCAGTGT	0.483000													16	114					0	0	0.028581	0	0
TIMM50	92609	broad.mit.edu	37	19	39971230	39971230	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39971230C>T	ENST00000314349.4	+	1	179	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCTTCCTTCGCTGCGTCCT	0.562000													8	82					0	0	0.038147	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21822578C>T	ENST00000216297.2	-	23	3120	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478000													6	46					0	0	0.021553	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061734	1061734	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:1061734T>C	ENST00000360803.4	+	16	1732	c.1650T>C	c.(1648-1650)acT>acC	p.T550T	GTPBP4_ENST00000545048.1_Silent_p.T503T|GTPBP4_ENST00000538293.1_Silent_p.T434T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	550					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGAGCATCACTAGGAAAAGAA	0.587000													10	93					0	0	0.008291	0	0
OR6C75	390323	broad.mit.edu	37	12	55758919	55758919	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:55758919G>A	ENST00000343399.3	+	1	25	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGTAACAGACTTTATTCT	0.353000													4	123					0	0	0.009096	0	0
ITGB4	3691	broad.mit.edu	37	17	73729739	73729739	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:73729739C>T	ENST00000200181.3	+	13	1810	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	ITGB4_ENST00000450894.3_Silent_p.F541F|ITGB4_ENST00000449880.2_Silent_p.F541F|ITGB4_ENST00000579662.1_Silent_p.F541F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.F541F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	541	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGACAACTTCCAGTGTCCCC	0.612000													4	42					0	0	0.009096	0	0
HK3	3101	broad.mit.edu	37	5	176310832	176310832	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:176310832C>T	ENST00000292432.5	-	15	2083	c.1992G>A	c.(1990-1992)acG>acA	p.T664T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	664	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCCCACCGTGTCATTGA	0.582000													11	123					0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45821618	45821618	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:45821618C>T	ENST00000397928.1	+	16	2821	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	TRPM2_ENST00000300481.9_Silent_p.F772F|TRPM2_ENST00000300482.5_Silent_p.F792F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.F792F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	792						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCTTCTTCACCGCACCCG	0.652000													17	193					0	0	0.028581	0	0
LILRB1	10859	broad.mit.edu	37	19	55143593	55143593	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55143593C>T	ENST00000396331.1	+	6	923	c.566C>T	c.(565-567)cCg>cTg	p.P189L	LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	189	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P189L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGAGCCCGAGTCGCAGG	0.592000										HNSCC(37;0.09)			17	147					0	0	0.028581	0	0
FAM83G	644815	broad.mit.edu	37	17	18881375	18881375	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:18881375G>A	ENST00000388995.6	-	5	1827	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P535L|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.P535L|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	535										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCATTCTGGGGAGCTTCCTC	0.647000													6	110					0	0	0.029380	0	0
NFKB2	4791	broad.mit.edu	37	10	104157126	104157126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104157126C>T	ENST00000369966.3	+	7	713	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	NFKB2_ENST00000428099.1_Nonsense_Mutation_p.Q155*|NFKB2_ENST00000189444.6_Nonsense_Mutation_p.Q155*	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	155	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACAAAAACTTCAGAGGCAGCG	0.572000			T	IGH@	B-NHL								4	121					0	0	0.009096	0	0
NAB1	4664	broad.mit.edu	37	2	191524148	191524148	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524148C>T	ENST00000337386.5	+	4	707	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NAB1_ENST00000409581.1_Silent_p.F82F|NAB1_ENST00000409641.1_Silent_p.F82F|NAB1_ENST00000357215.5_Silent_p.F82F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	82	NCD1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGCTTTTCAATCAGCCAC	0.478000													4	80					0	0	0.009096	0	0
LOC220729	220729	broad.mit.edu	37	3	197349060	197349060	+	RNA	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:197349060C>T	ENST00000418868.1	-	0	517					NR_003266.2																						CCCATCACCTCGACCATGGCA	0.582000													5	34					0	0	0.047766	0	0
ESRRG	2104	broad.mit.edu	37	1	216680464	216680464	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:216680464C>A	ENST00000391890.3	-	9	1663	c.1146G>T	c.(1144-1146)gcG>gcT	p.A382A	ESRRG_ENST00000463665.1_Silent_p.A336A|ESRRG_ENST00000366938.2_Silent_p.A375A|ESRRG_ENST00000361395.2_Silent_p.A375A|ESRRG_ENST00000366940.2_Silent_p.A375A|ESRRG_ENST00000487276.1_Silent_p.A375A|ESRRG_ENST00000360012.3_Silent_p.A375A|ESRRG_ENST00000408911.3_Silent_p.A398A|ESRRG_ENST00000366937.1_Silent_p.A410A|ESRRG_ENST00000493748.1_Silent_p.A375A|ESRRG_ENST00000359162.2_Silent_p.A375A|ESRRG_ENST00000493603.1_Silent_p.A375A|ESRRG_ENST00000361525.3_Silent_p.A375A	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	398					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATCCTGCAGCGCTTCATGTA	0.478000													11	63					2.27111e-07	2.44074e-07	0.013537	1	0
PTPRE	5791	broad.mit.edu	37	10	129839247	129839247	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129839247G>A	ENST00000254667.3	+	3	381	c.102G>A	c.(100-102)acG>acA	p.T34T	PTPRE_ENST00000471218.1_Silent_p.T34T|PTPRE_ENST00000419012.2_Silent_p.T34T|PTPRE_ENST00000430713.2_Silent_p.T34T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	34					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGACAACCACGACCTCAGGTA	0.592000													3	28					0	0	0.009096	0	0
KIF26B	55083	broad.mit.edu	37	1	245850124	245850124	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:245850124C>T	ENST00000366518.4	+	9	2800	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1280F			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1280					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1280C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCATCAGCTCCTGGCTGAGC	0.612000													4	36					0	0	0.009096	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455987	138455987	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:138455987C>T	ENST00000310018.2	-	3	288	c.6G>A	c.(4-6)gtG>gtA	p.V2V	ATP6V0A4_ENST00000353492.4_Silent_p.V2V|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.V2V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	2			V -> A (in dbSNP:rs10258719).		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAACACAGACACCATCTTGG	0.423000													13	154					0	0	0.024245	0	0
SMC1B	27127	broad.mit.edu	37	22	45802535	45802535	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:45802535C>T	ENST00000357450.4	-	4	420	c.421G>A	c.(421-423)Gag>Aag	p.E141K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E141K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	141					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAATTGACTCTACAGTTCCC	0.318000													6	56					0	0	0.021553	0	0
NOTCH2	4853	broad.mit.edu	37	1	120480557	120480557	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120480557C>T	ENST00000256646.2	-	20	3479	c.3260G>A	c.(3259-3261)tGc>tAc	p.C1087Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1087	EGF-like 28.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGACATAGGCACTGGGACTC	0.517000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	47					0	0	0.013537	0	0
SLC29A1	2030	broad.mit.edu	37	6	44201176	44201176	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:44201176G>C	ENST00000393841.1	+	14	1773	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	SLC29A1_ENST00000371731.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E428Q|SLC29A1_ENST00000393844.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E428Q|SLC29A1_ENST00000313248.7_Missense_Mutation_p.E507Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000427851.2_Missense_Mutation_p.E428Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	428					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGCTGAGGCAGAGACCGCAGG	0.587000													10	154					0	0	0.008291	0	0
DPYSL3	1809	broad.mit.edu	37	5	146804509	146804509	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:146804509G>C	ENST00000343218.5	-	2	596	c.399C>G	c.(397-399)atC>atG	p.I133M	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.I19M	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	19					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCCTTGATAAGGAGAC	0.368000													6	64					0	0	0.038147	0	0
HFE	3077	broad.mit.edu	37	6	26093372	26093372	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26093372C>T	ENST00000357618.5	+	5	1040	c.918C>T	c.(916-918)gtC>gtT	p.V306V	HFE_ENST00000317896.7_Silent_p.V214V|HFE_ENST00000470149.1_Silent_p.V303V|HFE_ENST00000352392.4_Silent_p.V34V|HFE_ENST00000336625.8_Silent_p.V200V|HFE_ENST00000353147.5_Silent_p.V126V|HFE_ENST00000309234.6_Silent_p.V306V|HFE_ENST00000461397.1_Silent_p.V292V|HFE_ENST00000349999.4_Silent_p.V218V|HFE_ENST00000397022.3_Silent_p.V283V|HFE_ENST00000488199.1_Silent_p.V204V	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	306	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCTAGTCATTGGAGTCA	0.443000									Hemochromatosis				5	46					0	0	0.021553	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227300480	227300480	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:227300480C>T	ENST00000366769.3	-	13	3073	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Silent_p.Q594Q|CDC42BPA_ENST00000535525.1_Silent_p.Q594Q|CDC42BPA_ENST00000366764.2_Silent_p.Q594Q|CDC42BPA_ENST00000366765.3_Silent_p.Q594Q|CDC42BPA_ENST00000366766.2_Silent_p.Q594Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	594					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCAAGTTTCTGTTTTTGGG	0.468000													16	210					0	0	0.033300	0	0
PSD	5662	broad.mit.edu	37	10	104163637	104163637	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104163637C>T	ENST00000020673.5	-	16	3332	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	PSD_ENST00000406432.1_Missense_Mutation_p.E936K	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	936					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGCTGCTCTTCAGCCTCCTTG	0.662000													4	17					0	0	0.009096	0	0
RERE	473	broad.mit.edu	37	1	8425906	8425906	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:8425906G>A	ENST00000337907.3	-	14	2047	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.V203V|RERE_ENST00000400907.2_Silent_p.V471V|RERE_ENST00000400908.2_Silent_p.V471V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	471					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGTGTGTTGACGGGTGTGG	0.632000													4	63					0	0	0.014758	0	0
ZNF107	51427	broad.mit.edu	37	7	64168431	64168431	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:64168431A>G	ENST00000395391.1	+	4	3124	c.1749A>G	c.(1747-1749)gaA>gaG	p.E583E	ZNF107_ENST00000344930.3_Silent_p.E583E|ZNF107_ENST00000423627.1_Silent_p.E583E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATTTGAAGAACATGGAA	0.338000													3	77					0	0	0.004672	0	0
JADE3	9767	broad.mit.edu	37	X	46915504	46915504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:46915504G>C	ENST00000218343.4	+	10	1762	c.1464G>C	c.(1462-1464)atG>atC	p.M488I	PHF16_ENST00000397189.1_Missense_Mutation_p.M488I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		488					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCTATATGATAAGCAGAC	0.398000													3	24					0	0	0.004672	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220735	118220735	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:118220735C>T	ENST00000402510.2	-	11	4457	c.4458G>A	c.(4456-4458)tcG>tcA	p.S1486S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1486										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						TATACTTCTGCGAGGGAGGGG	0.448000													3	32					0	0	0.004672	0	0
ENPP1	5167	broad.mit.edu	37	6	132201070	132201070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:132201070C>T	ENST00000360971.2	+	20	2016	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	666	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAGTTCTCCAGAAGGAAAA	0.403000													9	80					0	0	0.047766	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750479	94750479	+	Silent	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:94750479T>G	ENST00000554723.1	-	5	1696	c.1278A>C	c.(1276-1278)acA>acC	p.T426T	SERPINA10_ENST00000554173.1_Silent_p.T386T|SERPINA10_ENST00000261994.4_Silent_p.T386T|SERPINA10_ENST00000393096.1_Silent_p.T386T			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	386					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCAATCACTGTTCTTTGTA	0.428000													6	22					0	0	0.021553	0	0
GPD2	2820	broad.mit.edu	37	2	157352715	157352715	+	Missense_Mutation	SNP	G	G	A	rs115026480	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:157352715G>A	ENST00000310454.6	+	3	634	c.262G>A	c.(262-264)Gct>Act	p.A88T	GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.A88T|GPD2_ENST00000409674.1_Missense_Mutation_p.A88T|GPD2_ENST00000540309.1_Missense_Mutation_p.A88T	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	88					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGCGCTAGATGCTGTCACCAG	0.413000													5	30					0	0	0.014758	0	0
CCDC125	202243	broad.mit.edu	37	5	68590675	68590675	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:68590675G>A	ENST00000396496.2	-	9	976	c.869C>T	c.(868-870)tCt>tTt	p.S290F	CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.S165F|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S290F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	290						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)		TCTGGCACAAGAACAGGGGTT	0.463000													14	171					0	0	0.016723	0	0
LACC1	144811	broad.mit.edu	37	13	44463085	44463085	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:44463085C>T	ENST00000441843.1	+	5	1585	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	LACC1_ENST00000325686.6_Missense_Mutation_p.P367L	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	367																	TTTGATTCACCAAATCCCTGT	0.373000													4	78					0	0	0.009096	0	0
APOC1	341	broad.mit.edu	37	19	45419544	45419544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:45419544C>G	ENST00000588750.1	+	4	481	c.156C>G	c.(154-156)atC>atG	p.I52M	APOC1_ENST00000588802.1_Missense_Mutation_p.I52M|APOC1_ENST00000586638.1_Missense_Mutation_p.I52M|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000252491.4_Missense_Mutation_p.I52M|APOC1_ENST00000592885.1_Missense_Mutation_p.I52M			P02654	APOC1_HUMAN	apolipoprotein C-I	52					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGGAACTCATCAGCCGCATCA	0.587000													8	95					0	0	0.047766	0	0
GOLGA3	2802	broad.mit.edu	37	12	133362956	133362956	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133362956C>T	ENST00000204726.3	-	15	3650	c.3092G>A	c.(3091-3093)gGt>gAt	p.G1031D	GOLGA3_ENST00000545875.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G1031D|GOLGA3_ENST00000450791.2_Missense_Mutation_p.G1031D	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1031					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACTGCTGCCACCCTGGGCTCG	0.692000													5	41					0	0	0.014758	0	0
SLC38A6	145389	broad.mit.edu	37	14	61510219	61510219	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:61510219G>C	ENST00000354886.2	+	10	906	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SLC38A6_ENST00000456840.2_Missense_Mutation_p.E225Q|SLC38A6_ENST00000267488.4_Missense_Mutation_p.E248Q	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	248					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTCTCCAAAGAGGTGTGTAA	0.343000													4	46					0	0	0.009096	0	0
RIOK2	55781	broad.mit.edu	37	5	96498921	96498921	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96498921C>T	ENST00000283109.3	-	10	1571	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	501	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCTTCTGTTTCACCAGTTCCT	0.353000													4	41					0	0	0.014758	0	0
OR51A4	401666	broad.mit.edu	37	11	4967899	4967899	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:4967899G>A	ENST00000380373.2	-	1	457	c.432C>T	c.(430-432)gcC>gcT	p.A144A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTATTTGGGCAACTCTGA	0.428000													32	179					0	0	0.025465	0	0
ADRBK1	156	broad.mit.edu	37	11	67050604	67050604	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:67050604G>A	ENST00000308595.5	+	15	1523	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	411	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TAAAGGCCGTGGAGCTGCCCG	0.647000													14	127					0	0	0.028581	0	0
RBP3	5949	broad.mit.edu	37	10	48388901	48388901	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48388901C>G	ENST00000224600.4	-	1	2090	c.1977G>C	c.(1975-1977)caG>caC	p.Q659H		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	659	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)	GGGCACTGGTCTGCCCCACGA	0.672000													4	37					0	0	0.009096	0	0
HAUS5	23354	broad.mit.edu	37	19	36113850	36113850	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:36113850G>A	ENST00000203166.5	+	19	1882	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	619					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGTGGCGGCTGCGCTGGGTTC	0.652000													14	62					0	0	0.016723	0	0
GABRQ	55879	broad.mit.edu	37	X	151821396	151821396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:151821396G>T	ENST00000370306.2	+	9	1571	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGGGAAGCCCATGCTTC	0.547000													4	60					0.00909568	0.00942312	0.009096	1	0
ZNF44	51710	broad.mit.edu	37	19	12384320	12384320	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:12384320C>T	ENST00000356109.5	-	5	1012	c.894G>A	c.(892-894)gaG>gaA	p.E298E	ZNF44_ENST00000355684.5_Silent_p.E250E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393000													10	147					0	0	0.006214	0	0
KRT5	3852	broad.mit.edu	37	12	52913991	52913991	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:52913991G>A	ENST00000252242.4	-	1	480	c.90C>T	c.(88-90)acC>acT	p.T30T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGA	0.662000													3	53					0	0	0.004672	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42067523	42067523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:42067523G>A	ENST00000457542.2	+	2	336	c.50G>A	c.(49-51)aGa>aAa	p.R17K	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R17K|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R17K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R17K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	17										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AATCTGTTGAGATCTCCATCC	0.542000													9	70					0	0	0.008291	0	0
PPP1R14B	26472	broad.mit.edu	37	11	64012227	64012227	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:64012227C>T	ENST00000309318.3	-	4	710	c.443G>A	c.(442-444)tGa>tAa	p.*148*	PPP1R14B_ENST00000542235.1_Silent_p.*73*|PPP1R14B_ENST00000392210.2_Silent_p.*46*	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CGGGGACCGTCACTTCTTCTG	0.617000													5	47					0	0	0.021553	0	0
ERBB4	2066	broad.mit.edu	37	2	212530201	212530201	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:212530201C>T	ENST00000342788.4	-	15	2028	c.1716_splice	c.e15-1	p.G573_splice	ERBB4_ENST00000436443.1_Splice_Site_p.G573_splice|ERBB4_ENST00000402597.1_Splice_Site_p.G573_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	573	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTGTCAGGACCCTGAAATGT	0.393000										TSP Lung(8;0.080)			4	47					0	0	0.009096	0	0
NEDD4	4734	broad.mit.edu	37	15	56144728	56144728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:56144728G>A	ENST00000508342.1	-	9	2596	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEDD4_ENST00000338963.2_Missense_Mutation_p.S694L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S750L|NEDD4_ENST00000435532.3_Missense_Mutation_p.S347L			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	766	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCCAGATGAAGTAGGCAA	0.383000													4	46					0	0	0.009096	0	0
COG6	57511	broad.mit.edu	37	13	40261891	40261891	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:40261891G>A	ENST00000416691.1	+	10	1064	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	COG6_ENST00000455146.3_Missense_Mutation_p.E322K	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	322					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TACTGCTTCTGAAAAGGAACA	0.373000													5	64					0	0	0.021553	0	0
CCDC87	55231	broad.mit.edu	37	11	66358522	66358522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66358522C>T	ENST00000333861.3	-	1	2032	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	655										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACAGTGTTCCAATCCCACT	0.542000													10	94					0	0	0.006214	0	0
CD177	57126	broad.mit.edu	37	19	43865665	43865665	+	RNA	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:43865665T>C	ENST00000378009.4	+	0	1176				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TTCAAGTGGCTCCCCCCGAAT	0.607000													3	40					0	0	0.004672	0	0
ARID2	196528	broad.mit.edu	37	12	46245723	46245723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:46245723C>T	ENST00000334344.6	+	15	3989	c.3817C>T	c.(3817-3819)Cga>Tga	p.R1273*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1124*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R883*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428000			"""N, S, F"""		hepatocellular carcinoma								5	55					0	0	0.014758	0	0
DLEC1	9940	broad.mit.edu	37	3	38081059	38081059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:38081059G>A	ENST00000308059.6	+	1	364	c.343G>A	c.(343-345)Gca>Aca	p.A115T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A115T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A115T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	115					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAAGTGAGCGCAAGCTTGAT	0.642000													4	114					0	0	0.009096	0	0
PKN1	5585	broad.mit.edu	37	19	14569134	14569134	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:14569134G>C	ENST00000242783.6	+	9	1531	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	PKN1_ENST00000342216.4_Missense_Mutation_p.E462Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	456	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTTGGACAATGAGAGGCATGA	0.582000													4	58					0	0	0.009096	0	0
CASP8	841	broad.mit.edu	37	2	202137620	202137620	+	Splice_Site	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202137620G>C	ENST00000358485.4	+	5	923		c.e5-1		CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Intron	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAATTCAGAGAGAAGCAG	0.368000										HNSCC(4;0.00038)			4	80					0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152772295	152772295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:152772295C>G	ENST00000367255.5	-	26	3674	c.3073G>C	c.(3073-3075)Gat>Cat	p.D1025H	SYNE1_ENST00000367253.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1091H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000413186.2_Missense_Mutation_p.D1025H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D1015H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1025					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCACATCAATCTTCAGA	0.413000										HNSCC(10;0.0054)			6	89					0	0	0.021553	0	0
CUL1	8454	broad.mit.edu	37	7	148487477	148487477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:148487477C>T	ENST00000325222.4	+	16	2029	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q584*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q584*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	584					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGGTTATATCAGTTGTCTAA	0.358000													5	59					0	0	0.014758	0	0
STARD13	90627	broad.mit.edu	37	13	33859613	33859613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:33859613G>C	ENST00000336934.5	-	1	279	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	55	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCACCTTGTTGAATTTTAGTC	0.458000													8	113					0	0	0.047766	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060832	76060832	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:76060832G>A	ENST00000335749.4	+	4	2985	c.2416G>A	c.(2416-2418)Gtt>Att	p.V806I	TNRC6C_ENST00000541771.1_Missense_Mutation_p.V809I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V809I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V809I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	809	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGCCTAATGTTCACTCAAA	0.458000													6	68					0	0	0.029380	0	0
ALCAM	214	broad.mit.edu	37	3	105253681	105253681	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:105253681A>G	ENST00000306107.5	+	6	1222	c.722A>G	c.(721-723)gAt>gGt	p.D241G	ALCAM_ENST00000472644.2_Missense_Mutation_p.D241G|ALCAM_ENST00000486979.2_Missense_Mutation_p.D190G|ALCAM_ENST00000389927.4_Missense_Mutation_p.D50G|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	241					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GCAGTATTTGATATTTACTGT	0.323000													6	31					0	0	0.021553	0	0
BSCL2	26580	broad.mit.edu	37	11	62457987	62457987	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62457987C>A	ENST00000433053.1	-	12	1797	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	BSCL2_ENST00000405837.1_Missense_Mutation_p.G416V|BSCL2_ENST00000403550.1_Missense_Mutation_p.G350V|BSCL2_ENST00000360796.5_Missense_Mutation_p.G414V|BSCL2_ENST00000407022.3_Missense_Mutation_p.G350V|BSCL2_ENST00000278893.7_3'UTR|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.G350V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	350					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TTCCCAGGAGCCTGAACCTGG	0.572000													3	41					0.004672	0.00489898	0.004672	1	0
COL11A1	1301	broad.mit.edu	37	1	103471837	103471837	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:103471837G>A	ENST00000358392.2	-	16	2071	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	COL11A1_ENST00000353414.4_Missense_Mutation_p.T534M|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573M|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.T457M	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348000													11	63					0	0	0.016723	0	0
AP4M1	9179	broad.mit.edu	37	7	99701070	99701070	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:99701070G>A	ENST00000429084.1	+	5	569	c.411G>A	c.(409-411)ctG>ctA	p.L137L	AP4M1_ENST00000359593.4_Silent_p.L130L|AP4M1_ENST00000422582.1_Silent_p.L2L|AP4M1_ENST00000421755.1_Silent_p.L130L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	130					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGAGATGCTGAGGAATTTCA	0.537000													8	70					0	0	0.038147	0	0
SLMAP	7871	broad.mit.edu	37	3	57875802	57875802	+	Silent	SNP	G	G	A	rs148417939		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:57875802G>A	ENST00000383718.3	+	13	1370	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	SLMAP_ENST00000449503.2_Silent_p.A390A|SLMAP_ENST00000428312.1_Silent_p.A428A|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.A411A|SLMAP_ENST00000295951.3_Silent_p.A411A|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000442599.2_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	428					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAACCAAAGCGGTAGAAGAAA	0.393000													3	51					0	0	0.009096	0	0
VAPA	9218	broad.mit.edu	37	18	9931855	9931855	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:9931855C>G	ENST00000400000.2	+	2	383	c.128C>G	c.(127-129)tCg>tGg	p.S43W	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.S43W	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	43	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						CGAAATCCATCGGATAGAAAA	0.393000													4	90					0	0	0.021553	0	0
CRBN	51185	broad.mit.edu	37	3	3215782	3215782	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:3215782A>G	ENST00000231948.4	-	3	360	c.338T>C	c.(337-339)tTa>tCa	p.L113S	CRBN_ENST00000432408.2_Missense_Mutation_p.L112S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	113	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		TTTCTGAATTAAATTCCGCAC	0.408000													4	54					0	0	0.009096	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825367	21825367	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21825367C>T	ENST00000216297.2	-	22	2987	c.2649G>A	c.(2647-2649)aaG>aaA	p.K883K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	883					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATTCCTTGATGGGGT	0.413000													3	16					0	0	0.009096	0	0
MARCH6	10299	broad.mit.edu	37	5	10423860	10423860	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:10423860G>C	ENST00000274140.5	+	23	2429	c.2297G>C	c.(2296-2298)gGa>gCa	p.G766A	MARCH6_ENST00000449913.2_Missense_Mutation_p.G718A|MARCH6_ENST00000510792.1_Missense_Mutation_p.G464A|MARCH6_ENST00000503788.1_Missense_Mutation_p.G661A	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	766					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGGCACTTGGAGTCCTGCAT	0.358000													3	25					0	0	0.004672	0	0
RUNX2	860	broad.mit.edu	37	6	45480007	45480007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:45480007C>T	ENST00000371438.1	+	6	1242	c.884C>T	c.(883-885)cCg>cTg	p.P295L	RUNX2_ENST00000465038.2_Missense_Mutation_p.P295L|RUNX2_ENST00000576263.1_Missense_Mutation_p.P295L|RUNX2_ENST00000352853.5_Missense_Mutation_p.P363L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P281L|RUNX2_ENST00000371436.6_Missense_Mutation_p.P295L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P363L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P281L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	295	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGTCTTCCCCGCCGTGGTCC	0.532000													8	95					0	0	0.047766	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416262	1416262	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:1416262C>A	ENST00000270349.9	-	7	1109	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V328L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	328					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCGATCAGCACCCCGAACCCC	0.617000													4	61					0.00909568	0.00942312	0.009096	1	0
MEOX2	4223	broad.mit.edu	37	7	15725557	15725557	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:15725557C>T	ENST00000262041.5	-	1	880	c.471G>A	c.(469-471)gcG>gcA	p.A157A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	157					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		TCTCCGCCTCCGCAGGTGACA	0.711000													15	200					0	0	0.028581	0	0
MYO1D	4642	broad.mit.edu	37	17	31094700	31094700	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:31094700T>A	ENST00000318217.5	-	7	1089	c.785A>T	c.(784-786)gAg>gTg	p.E262V	MYO1D_ENST00000583621.1_Missense_Mutation_p.E262V|MYO1D_ENST00000394649.4_Missense_Mutation_p.E174V|MYO1D_ENST00000579584.1_Missense_Mutation_p.E262V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	262	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGATCTCCTCAGGTTTGAA	0.423000													6	43					0	0	0.021553	0	0
CACNA1B	774	broad.mit.edu	37	9	140946543	140946543	+	Splice_Site	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:140946543G>A	ENST00000277549.5	+	26	3867		c.e26-1		CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCCTTCTAGAGGATCCAAA	0.572000													7	11					0	0	0.029380	0	0
COL7A1	1294	broad.mit.edu	37	3	48629337	48629337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:48629337C>G	ENST00000328333.8	-	10	1458	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.E451Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	451	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACCAGTCTCACGCCGCCAT	0.632000													14	105					0	0	0.024245	0	0
POU2F3	25833	broad.mit.edu	37	11	120170369	120170369	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:120170369C>A	ENST00000260264.4	+	5	335	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	POU2F3_ENST00000543440.2_Missense_Mutation_p.L99M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	99					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGCTTGTGCTGGTTCCCGG	0.552000											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	66					0.00448238	0.00471925	0.047766	1	0
PXMP2	5827	broad.mit.edu	37	12	133277837	133277837	+	Splice_Site	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133277837G>A	ENST00000545677.1	+	3	218	c.13_splice	c.e3-1	p.G5_splice	PXMP2_ENST00000428960.2_Splice_Site_p.G41_splice|PXMP2_ENST00000317479.3_Splice_Site_p.G134_splice|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Splice_Site_p.G5_splice|RP13-672B3.2_ENST00000537262.1_Splice_Site_p.G5_splice			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTTTGCAGGGGAAAGACGCC	0.572000													15	165					0	0	0.028581	0	0
KIF5B	3799	broad.mit.edu	37	10	32329358	32329358	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329358A>T	ENST00000302418.4	-	3	699	c.242T>A	c.(241-243)aTa>aAa	p.I81K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATATGCAAATATTGTTCCATT	0.328000			T	"""RET, ALK"""	NSCLC								5	34					0	0	0.014758	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470529	70470529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:70470529C>T	ENST00000373998.1	-	5	1523	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ZMYM3_ENST00000353904.2_Missense_Mutation_p.D276N|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D278N|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D276N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D276N	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	276					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AAGTCCTCATCATTGGGGTCA	0.567000													4	14					0	0	0.009096	0	0
AKAP6	9472	broad.mit.edu	37	14	33292668	33292668	+	Missense_Mutation	SNP	C	C	G	rs113957453		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:33292668C>G	ENST00000280979.4	+	13	5819	c.5649C>G	c.(5647-5649)ttC>ttG	p.F1883L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1883					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACTATTTTCAAAGTTAATA	0.353000													3	28					0	0	0.004672	0	0
NUPL1	9818	broad.mit.edu	37	13	25914137	25914137	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:25914137C>T	ENST00000381736.3	+	16	1915	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	NUPL1_ENST00000381718.3_Silent_p.F543F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	555	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTTAACTTCAGCAATCCTG	0.418000													4	129					0	0	0.009096	0	0
MKI67	4288	broad.mit.edu	37	10	129914118	129914118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129914118G>A	ENST00000368654.3	-	7	929	c.554C>T	c.(553-555)tCa>tTa	p.S185L	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	185					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCATGTTCTGAGGAATGAAC	0.413000													17	104					0	0	0.043863	0	0
IARS	3376	broad.mit.edu	37	9	95013063	95013063	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95013063C>T	ENST00000375643.3	-	23	2627	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	IARS_ENST00000443024.2_Silent_p.L787L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.L677L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	787					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGGGTCAATCAGCACCTTTA	0.453000													5	23					0	0	0.014758	0	0
RP11-45M22.4	0	broad.mit.edu	37	17	17120452	17120452	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:17120452G>A	ENST00000427497.3	-	6	729	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	FLCN_ENST00000285071.4_Silent_p.L369L																							GGTTCCCCATGAGAACGTGCC	0.522000													5	36					0	0	0.014758	0	0
SAMD4B	55095	broad.mit.edu	37	19	39867397	39867397	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39867397G>A	ENST00000314471.6	+	9	2105	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R357H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	357	SAM.						protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGAAGCTGCGTGAGAGACAG	0.557000													8	36					0	0	0.047766	0	0
ASPN	54829	broad.mit.edu	37	9	95219641	95219641	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95219641C>G	ENST00000375544.3	-	8	1315	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_3'UTR	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	358					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTTGCATTTCCCAGTATTTC	0.373000													6	46					0	0	0.021553	0	0
GDF2	2658	broad.mit.edu	37	10	48414224	48414224	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48414224A>G	ENST00000249598.1	-	2	803	c.644T>C	c.(643-645)gTc>gCc	p.V215A		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	215					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|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						GTCGGACCGGACCCAGCGCTT	0.587000													9	103					0	0	0.008291	0	0
EP400	57634	broad.mit.edu	37	12	132502171	132502171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:132502171G>A	ENST00000333577.4	+	21	4232	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	EP400_ENST00000332482.4_Missense_Mutation_p.E1302K|EP400_ENST00000330386.6_Missense_Mutation_p.E1339K|EP400_ENST00000389562.2_Missense_Mutation_p.E1338K|EP400_ENST00000389561.2_Missense_Mutation_p.E1339K			Q96L91	EP400_HUMAN	E1A binding protein p400	1375					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGCTCGTCGAGCCCCGGCA	0.612000													7	65					0	0	0.029380	0	0
DDB1	1642	broad.mit.edu	37	11	61079299	61079299	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:61079299G>A	ENST00000301764.7	-	18	2631	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	745	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.T745M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCCCACTCGTGTCTTGGAC	0.552000								Nucleotide excision repair (NER)					5	64					0	0	0.014758	0	0
KIF5B	3799	broad.mit.edu	37	10	32329361	32329361	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329361G>A	ENST00000302418.4	-	3	696	c.239C>T	c.(238-240)aCa>aTa	p.T80I		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	80	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGCAAATATTGTTCCATTATA	0.333000			T	"""RET, ALK"""	NSCLC								4	34					0	0	0.009096	0	0
ICAM1	3383	broad.mit.edu	37	19	10394872	10394872	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:10394872C>T	ENST00000264832.3	+	4	1126	c.801C>T	c.(799-801)aaC>aaT	p.N267N	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.N45N	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	267	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTATGGCAACGACTCCTTCT	0.632000													9	77					0	0	0.047766	0	0
TRERF1	55809	broad.mit.edu	37	6	42231033	42231033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:42231033G>A	ENST00000541110.1	-	8	2477	c.1909C>T	c.(1909-1911)Cac>Tac	p.H637Y	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGTGAGTGTGGGGGAGAG	0.657000													15	85					0	0	0.020292	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564809	58564809	+	Missense_Mutation	SNP	G	G	T	rs149388605	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58564809G>T	ENST00000282326.1	+	6	864	c.617G>T	c.(616-618)cGc>cTc	p.R206L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	206					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCGGGCCCGCTTGCCTCTG	0.662000													8	76					1.26484e-09	1.37645e-09	0.038147	1	0
NF1	4763	broad.mit.edu	37	17	29559140	29559140	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:29559140C>T	ENST00000358273.4	+	25	3630	c.3247C>T	c.(3247-3249)Ctc>Ttc	p.L1083F	NF1_ENST00000356175.3_Missense_Mutation_p.L1083F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1083					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	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)		TCTAGCTGGTCTCCCTCTGCA	0.353000			"""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)			4	24					0	0	0.014758	0	0
CPSF2	53981	broad.mit.edu	37	14	92625471	92625471	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:92625471G>A	ENST00000298875.4	+	14	2251	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	656					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTAAAGGATGATGGAGAAGA	0.413000													5	44					0	0	0.029380	0	0
DISC1	27185	broad.mit.edu	37	1	231830190	231830190	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:231830190G>A	ENST00000439617.2	+	2	739	c.686G>A	c.(685-687)tGc>tAc	p.C229Y	DISC1_ENST00000317586.4_Missense_Mutation_p.C229Y|DISC1_ENST00000602281.1_Missense_Mutation_p.C229Y|DISC1_ENST00000366636.4_Missense_Mutation_p.C229Y|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.C229Y|DISC1_ENST00000535983.1_Missense_Mutation_p.C229Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.C229Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.C229Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	229	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAAGGCTGCCCACCATCC	0.617000													9	58					0	0	0.006214	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105418199C>T	ENST00000333244.5	-	7	3708	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						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)			GGGAGACTCACGTCGGCCTCC	0.617000													11	191					0	0	0.018920	0	0
EP300	2033	broad.mit.edu	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	26					0	0	0.009096	0	0
HMHA1	23526	broad.mit.edu	37	19	1073166	1073166	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:1073166G>A	ENST00000313093.2	+	3	671	c.440G>A	c.(439-441)cGc>cAc	p.R147H	HMHA1_ENST00000592335.1_Missense_Mutation_p.A28T|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.R174H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R151H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R163H|HMHA1_ENST00000543365.1_Missense_Mutation_p.R30H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	147					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GAGGCCCGCCGCCCGCGGGCC	0.647000													8	89					0	0	0.047766	0	0
LRCH2	57631	broad.mit.edu	37	X	114357438	114357438	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:114357438A>G	ENST00000317135.8	-	19	2015	c.1985T>C	c.(1984-1986)gTa>gCa	p.V662A	LRCH2_ENST00000538422.1_Missense_Mutation_p.V645A	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	662	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGGCAAAATTACTTTTAACCT	0.328000													3	17					0	0	0.004672	0	0
MRTO4	51154	broad.mit.edu	37	1	19583616	19583616	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:19583616G>A	ENST00000330263.4	+	4	547	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	84					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCTGATGAATACAAAGA	0.537000													18	234					0	0	0.049695	0	0
UBXN4	23190	broad.mit.edu	37	2	136536546	136536546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:136536546C>T	ENST00000272638.9	+	11	1393	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	361	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGTAATTTTTCGTTAGCAACC	0.358000													7	60					0	0	0.038147	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761549	7761549	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7761549G>A	ENST00000332439.4	+	1	249	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CYB5D1_ENST00000571846.1_Missense_Mutation_p.D33N|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000570446.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	33	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CAGGCCCGAAGACCTCTGGGT	0.617000											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	95					0	0	0.038147	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597000													4	185					0	0	0.014758	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618774	89618774	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:89618774A>G	ENST00000323061.5	-	1	612	c.132T>C	c.(130-132)ccT>ccC	p.P44P	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	44					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CCGCGCTGTCAGGGTCACCAg	0.642000													3	109					0	0	0.004672	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356921	128356921	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:128356921C>T	ENST00000485070.1	+	3	412	c.68C>T	c.(67-69)cCt>cTt	p.P23L	FAM71F1_ENST00000315184.5_Silent_p.L102L|FAM71F1_ENST00000469348.1_3'UTR			Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	10										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACCATGGCCCTGGGGGTGAC	0.577000													6	32					0	0	0.021553	0	0
KDM4A	9682	broad.mit.edu	37	1	44169928	44169928	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:44169928G>A	ENST00000372396.3	+	22	3216	c.3082G>A	c.(3082-3084)Gag>Aag	p.E1028K	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1028					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GCGCTTCAATGAGATTTTCAC	0.438000													6	153					0	0	0.021553	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033405	20033405	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:20033405T>G	ENST00000379651.3	-	11	1580	c.1562A>C	c.(1561-1563)cAg>cCg	p.Q521P	MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q406P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q469P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q476P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q562P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	521										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAGACGCATCTGTTCAGCTAC	0.458000													14	62					0	0	0.028581	0	0
CNTN2	6900	broad.mit.edu	37	1	205039123	205039123	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:205039123C>T	ENST00000331830.4	+	18	2649	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	789	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTCAAGATCCGCAGCTACAA	0.662000													9	71					0	0	0.006214	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968225	4968225	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrY:4968225G>A	ENST00000333703.4	+	5	3086	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R869H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R869H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	869					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTAAGATGTCGCCAGGCACCA	0.448000													22	44					0	0	0.014323	0	0
BPIFB2	80341	broad.mit.edu	37	20	31611154	31611154	+	Missense_Mutation	SNP	G	G	A	rs142508681		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:31611154G>A	ENST00000170150.3	+	16	1537	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	448						extracellular region	lipid binding										TCAGGGCTACGTGGTGATATC	0.592000													6	57					0	0	0.021553	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580117	49580117	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:49580117G>A	ENST00000546918.1	-	2	589	c.503C>T	c.(502-504)tCg>tTg	p.S168L	TUBA1A_ENST00000550767.1_Silent_p.L82L|TUBA1A_ENST00000301071.7_Silent_p.L117L|TUBA1A_ENST00000295766.5_Silent_p.L117L			Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						GGTCCAACACGAGGTCAATGA	0.413000													16	146					0	0	0.055883	0	0
RXRA	6256	broad.mit.edu	37	9	137328333	137328333	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:137328333G>A	ENST00000540193.1	+	9	1894	c.971G>A	c.(970-972)cGc>cAc	p.R324H	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.R421H			P19793	RXRA_HUMAN	retinoid X receptor, alpha	421	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CTCTTGCTCCGCCTGCCGGCT	0.607000													9	110					0	0	0.008291	0	0
USP6NL	9712	broad.mit.edu	37	10	11567452	11567452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:11567452C>T	ENST00000379237.1	-	4	482	c.88G>A	c.(88-90)Gag>Aag	p.E30K	USP6NL_ENST00000277575.5_Missense_Mutation_p.E47K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	30						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTTCAATCTCTGCACCTTCT	0.328000													9	67					0	0	0.006214	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84564179	84564179	+	RNA	SNP	A	A	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:84564179A>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CAGAAGAAAGAGCCATGCTAT	0.488000													5	5					0	0	0.014758	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554519	20554519	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:20554519G>C	ENST00000329697.6	-	11	1515	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I370M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	449					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTCATCTTTGATTCCCCGGT	0.498000													15	262					0	0	0.024245	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26252218G>C	ENST00000356350.2	+	1	340	c.340G>C	c.(340-342)Gag>Cag	p.E114Q		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537000													4	87					0	0	0.009096	0	0
NAB1	4664	broad.mit.edu	37	2	191524152	191524152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524152C>G	ENST00000337386.5	+	4	711	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	NAB1_ENST00000409581.1_Missense_Mutation_p.Q84E|NAB1_ENST00000409641.1_Missense_Mutation_p.Q84E|NAB1_ENST00000357215.5_Missense_Mutation_p.Q84E	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	84					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCTTTTCAATCAGCCACTGAC	0.493000													4	82					0	0	0.009096	0	0
SOX9	6662	broad.mit.edu	37	17	70120527	70120527	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:70120527G>A	ENST00000245479.2	+	3	1901	c.1529G>A	c.(1528-1530)tGa>tAa	p.*510*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	0					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTCGACCTTGAGGAGGCCTC	0.552000													5	80					0	0	0.014758	0	0
FAT1	2195	broad.mit.edu	37	4	187535344	187535344	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:187535344C>T	ENST00000441802.2	-	12	9439		c.e12+1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCATTACCTGTGTCTGG	0.368000										HNSCC(5;0.00058)			36	108					0	0	0.021022	0	0
ZNF251	90987	broad.mit.edu	37	8	145947129	145947129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:145947129G>A	ENST00000292562.7	-	5	2191	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGCTGAGGTGGTGTGAGCTG	0.403000													8	51					0	0	0.047766	0	0
CTNND2	1501	broad.mit.edu	37	5	11346704	11346704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:11346704G>A	ENST00000304623.8	-	9	1597	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q37*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q133*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q470*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q379*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	470					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTGTGCGCTGCAAGGGGACG	0.607000													7	58					0	0	0.029380	0	0
SPEG	10290	broad.mit.edu	37	2	220355164	220355164	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:220355164G>A	ENST00000312358.7	+	37	9087	c.8955G>A	c.(8953-8955)gaG>gaA	p.E2985E	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2985	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGTGCCGGGAGAATGCCACGG	0.672000													8	59					0	0	0.047766	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	31					0	0	0.009096	0	0
DNALI1	7802	broad.mit.edu	37	1	38027808	38027808	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:38027808G>A	ENST00000296218.7	+	5	779	c.769G>A	c.(769-771)Gag>Aag	p.E257K	DNALI1_ENST00000541606.1_Missense_Mutation_p.E109K|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	235					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACAATGAGGAGATTCAGTT	0.587000													3	24					0	0	0.004672	0	0
ARMC5	79798	broad.mit.edu	37	16	31477278	31477278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:31477278G>A	ENST00000408912.3	+	7	2574	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	ARMC5_ENST00000563544.1_Missense_Mutation_p.A658T|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.A690T|ARMC5_ENST00000268314.4_Missense_Mutation_p.A658T|ARMC5_ENST00000412665.2_Missense_Mutation_p.A302T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	658	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGGCCTGCGCGCTGACCCT	0.652000													12	71					0	0	0.020292	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878806	12878806	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:12878806G>A	ENST00000524591.2	+	5	1107	c.618G>A	c.(616-618)caG>caA	p.Q206Q	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	206							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTAAAGAGCAGTGTGGTTCAA	0.478000													12	106					0	0	0.013537	0	0
THEMIS	387357	broad.mit.edu	37	6	128134839	128134839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:128134839G>A	ENST00000368250.1	-	5	1208	c.710C>T	c.(709-711)tCa>tTa	p.S237L	THEMIS_ENST00000543064.1_Missense_Mutation_p.S316L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S281L|THEMIS_ENST00000368248.2_Missense_Mutation_p.S316L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	316	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAAGATTCTTGATGCCTGGTA	0.438000													4	115					0	0	0.009096	0	0
ENAM	10117	broad.mit.edu	37	4	71509145	71509145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:71509145C>T	ENST00000396073.3	+	9	2283	c.2002C>T	c.(2002-2004)Caa>Taa	p.Q668*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	668					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTCCTGGACAAAATAGATG	0.443000													9	74					0	0	0.047766	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			5	41					0	0	0.014758	0	0
BMI1	648	broad.mit.edu	37	10	22618452	22618452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:22618452C>T	ENST00000376663.3	+	10	1467	c.962C>T	c.(961-963)tCa>tTa	p.S321L	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S464L	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AATGGGTCATCAGCAACTTCT	0.393000													8	79					0	0	0.047766	0	0
INADL	10207	broad.mit.edu	37	1	62235043	62235043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:62235043G>A	ENST00000371158.2	+	5	587	c.473G>A	c.(472-474)gGa>gAa	p.G158E	INADL_ENST00000316485.6_Missense_Mutation_p.G158E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	158	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAAATCTCGGAAAAGTTGAT	0.433000													8	70					0	0	0.047766	0	0
NCAM1	4684	broad.mit.edu	37	11	113102481	113102481	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:113102481G>A	ENST00000316851.7	+	9	1174	c.1174G>A	c.(1174-1176)Ggc>Agc	p.G392S	NCAM1_ENST00000401611.2_Missense_Mutation_p.G401S|NCAM1_ENST00000533760.1_Missense_Mutation_p.G274S|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G401S(2)|p.G392S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACACCATCGGCCAGGACTC	0.582000													9	99					0	0	0.008291	0	0
AVP	551	broad.mit.edu	37	20	3065205	3065205	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:3065205C>G	ENST00000380293.3	-	1	165	c.116G>C	c.(115-117)aGa>aCa	p.R39T		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	39					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		AAGTACCTGTCTCAGCTCCAG	0.642000													5	155					0	0	0.014758	0	0
NLRP7	199713	broad.mit.edu	37	19	55450785	55450785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55450785G>A	ENST00000588756.1	-	6	1888	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	NLRP7_ENST00000328092.5_Missense_Mutation_p.H468Y|NLRP7_ENST00000592784.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000590030.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000340844.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.H496Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	468	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AAGCTGAGGTGGATGAAGGAG	0.622000													3	40					0	0	0.009096	0	0
MAST4	375449	broad.mit.edu	37	5	66461496	66461496	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66461496G>A	ENST00000404260.3	+	29	6806	c.6498G>A	c.(6496-6498)ccG>ccA	p.P2166P	MAST4_ENST00000405643.1_Silent_p.P1984P|MAST4_ENST00000403666.1_Silent_p.P1974P|MAST4_ENST00000261569.7_Silent_p.P1969P|MAST4_ENST00000403625.2_Silent_p.P2163P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2166	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCAGAGAGCCGGGGGCCAAGC	0.682000													3	11					0	0	0.004672	0	0
GSTM4	2948	broad.mit.edu	37	1	110199472	110199472	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:110199472G>A	ENST00000369833.1	+	0	229				GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000336075.5_Intron			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AGCAACCCATGGTGGCCACCT	0.617000													6	56					0	0	0.029380	0	0
NAGA	4668	broad.mit.edu	37	22	42461814	42461814	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:42461814C>T	ENST00000396398.3	-	6	1219	c.687G>A	c.(685-687)ctG>ctA	p.L229L	NAGA_ENST00000403363.1_Silent_p.L229L|NAGA_ENST00000402937.1_Silent_p.L229L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	229					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGAACCAATTCAGGATGGAGA	0.577000													5	55					0	0	0.014758	0	0
ACAP1	9744	broad.mit.edu	37	17	7253489	7253489	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7253489C>G	ENST00000158762.3	+	20	2211	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	669	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.R669G(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTGGGGGCTCGAGACTCTGA	0.637000													8	113					0	0	0.006214	0	0
ZNF521	25925	broad.mit.edu	37	18	22805793	22805793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:22805793C>A	ENST00000361524.3	-	4	2237	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E477*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E697*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	697					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.E697*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCACAACTCTCACAGATGTAA	0.453000			T	PAX5	ALL								8	111					0.00307968	0.00325566	0.038147	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764270	140764270	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140764270G>T	ENST00000518325.1	+	1	1804	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAACGCCTGGCTGTC	0.642000													11	118					1.5842e-08	1.71677e-08	0.016723	1	0
SH3BP1	23616	broad.mit.edu	37	22	38041500	38041500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:38041500G>A	ENST00000599616.1	+	8	715	c.715G>A	c.(715-717)Gag>Aag	p.E239K	SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E303K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E303K|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E303K			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	303	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCTGCTTTCTGAGGGCATGAA	0.642000													14	85					0	0	0.020292	0	0
ROR1	4919	broad.mit.edu	37	1	64643982	64643982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:64643982C>G	ENST00000371079.1	+	9	2633	c.2258C>G	c.(2257-2259)tCa>tGa	p.S753*	ROR1_ENST00000545203.1_Nonsense_Mutation_p.S204*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	753	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAGGGACTCTCAAGTCACACA	0.498000													5	67					0	0	0.014758	0	0
AMOT	154796	broad.mit.edu	37	X	112048305	112048305	+	Missense_Mutation	SNP	C	C	T	rs147627113	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:112048305C>T	ENST00000371959.3	-	5	1645	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	AMOT_ENST00000371958.1_Missense_Mutation_p.R317H|AMOT_ENST00000524145.1_Missense_Mutation_p.R549H|AMOT_ENST00000371962.1_Missense_Mutation_p.R317H|AMOT_ENST00000304758.1_Missense_Mutation_p.R140H	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	549					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCTTCTCACGCTGGCTTTC	0.498000													6	158					0	0	0.029380	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	57					0	0	0.004672	0	0
PLCB4	5332	broad.mit.edu	37	20	9317800	9317800	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:9317800C>G	ENST00000378501.2	+	2	127	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	PLCB4_ENST00000378473.3_Missense_Mutation_p.L38V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L38V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L38V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L38V|PLCB4_ENST00000378493.1_Missense_Mutation_p.L38V|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	38					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACCCAACTGCCTCTTCAAAGT	0.383000													3	75					0	0	0.004672	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977900	120977900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:120977900C>T	ENST00000273666.6	+	18	2114	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	STXBP5L_ENST00000497029.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R615W	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	615					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGAAGACACGGCCAGTGCG	0.373000													4	32					0	0	0.014758	0	0
AC015849.16	0	broad.mit.edu	37	17	34236351	34236351	+	RNA	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:34236351C>T	ENST00000587132.1	-	0	1676																											TGTTCAACCTCTGTAGTGGGT	0.483000													7	98					0	0	0.029380	0	0
STRADB	55437	broad.mit.edu	37	2	202340452	202340452	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202340452G>A	ENST00000194530.3	+	7	900	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	STRADB_ENST00000392249.2_Missense_Mutation_p.G179S	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	179	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCACCAAAATGGCTGTATTCA	0.338000													18	90					0	0	0.043863	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950273	45950273	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:45950273C>G	ENST00000531526.1	+	14	2154	c.2043C>G	c.(2041-2043)acC>acG	p.T681T	GYLTL1B_ENST00000325468.5_Silent_p.T681T|GYLTL1B_ENST00000401752.1_Silent_p.T681T|GYLTL1B_ENST00000529052.1_Silent_p.T650T|GYLTL1B_ENST00000536139.1_Silent_p.T650T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	681					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCAGCCCCACCTATCGTGACT	0.637000													8	115					0	0	0.006214	0	0
OGDHL	55753	broad.mit.edu	37	10	50952758	50952758	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:50952758T>C	ENST00000374103.4	-	13	1755	c.1670A>G	c.(1669-1671)tAt>tGt	p.Y557C	OGDHL_ENST00000419399.1_Missense_Mutation_p.Y500C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y348C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	557					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGACCTGCCATAAGCCTCCTC	0.547000													6	56					0	0	0.047766	0	0
RPS27	6232	broad.mit.edu	37	1	153964115	153964115	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:153964115C>G	ENST00000368567.4	+	3	227	c.189C>G	c.(187-189)ctC>ctG	p.L63L	RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	63					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACTGTCCTCTGCCAGCCTA	0.398000													5	51					0	0	0.014758	0	0
ITGA6	3655	broad.mit.edu	37	2	173355777	173355777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:173355777G>A	ENST00000375221.2	+	22	3025	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R783Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.R902Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.R897Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.R902Q|ITGA6_ENST00000264106.6_Missense_Mutation_p.R941Q			P23229	ITA6_HUMAN	integrin, alpha 6	941					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.R902L(4)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAGAAACGGGAAATTACT	0.299000													18	167					0	0	0.033300	0	0
CUZD1	50624	broad.mit.edu	37	10	124596554	124596554	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:124596554C>T	ENST00000368904.1	-	7	1559	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D204N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D204N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	204	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CACTGTTTGTCTATTTCTAGG	0.428000													10	20					0	0	0.006214	0	0
CRABP2	1382	broad.mit.edu	37	1	156670736	156670736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:156670736C>T	ENST00000368222.3	-	2	333	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CRABP2_ENST00000368221.1_Missense_Mutation_p.R60H	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	60					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	p.R60H(2)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	CTCTGTGGTGCGCACGGTGGT	0.552000													4	96					0	0	0.009096	0	0
OR1J2	26740	broad.mit.edu	37	9	125273592	125273592	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:125273592C>T	ENST00000335302.5	+	1	512	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCTGTGCTGCGAACACCATC	0.532000													18	136					0	0	0.033300	0	0
OR51B2	79345	broad.mit.edu	37	11	5344774	5344774	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:5344774T>C	ENST00000328813.2	-	1	808	c.754A>G	c.(754-756)Aca>Gca	p.T252A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATCACTGTAACATAGAAG	0.388000													3	42					0	0	0.004672	0	0
EP300	2033	broad.mit.edu	37	22	41574519	41574519	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41574519G>A	ENST00000263253.7	+	31	8023	c.6804G>A	c.(6802-6804)caG>caA	p.Q2268Q	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2268					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTCAGCAACAGATGGGGTCCC	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	92					0	0	0.009096	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581457	33581457	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:33581457C>T	ENST00000321505.4	+	6	3307	c.3127_splice	c.e6+1	p.P1043_splice	KIAA1549L_ENST00000389726.3_Splice_Site_p.P1049_splice|KIAA1549L_ENST00000265654.5_Splice_Site_p.P1049_splice					KIAA1549-like																		CATTGCTGAACGTGAGTATGG	0.547000													9	197					0	0	0.013537	0	0
GALT	2592	broad.mit.edu	37	9	34647693	34647693	+	Missense_Mutation	SNP	G	G	C	rs111033675		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:34647693G>C	ENST00000378842.3	+	4	410	c.368G>C	c.(367-369)cGa>cCa	p.R123P	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	123			R -> G (in GALCT).|R -> Q (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTCTGCTCGAGGAGTCTGG	0.532000									Galactosemia				5	48					0	0	0.014758	0	0
FAM9A	171482	broad.mit.edu	37	X	8759387	8759387	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:8759387T>G	ENST00000543214.1	-	9	1099	c.964A>C	c.(964-966)Att>Ctt	p.I322L	FAM9A_ENST00000381003.3_Missense_Mutation_p.I322L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	322						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGGAAGAAATGATGCAATAA	0.348000													10	22					0	0	0.008291	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497118	95497118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:95497118G>A	ENST00000317968.4	+	5	779	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PDLIM5_ENST00000514743.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.E106K|PDLIM5_ENST00000437932.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000450793.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000542407.1_Missense_Mutation_p.E93K	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	215					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGTGTTCCGAGACTTCTCA	0.512000													11	60					0	0	0.008291	0	0
CD180	4064	broad.mit.edu	37	5	66479817	66479817	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66479817C>T	ENST00000256447.4	-	3	1011	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	285					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTCAGAGAAGCGGTGTTCCTG	0.473000													12	70					0	0	0.010729	0	0
KIF5B	3799	broad.mit.edu	37	10	32329359	32329359	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329359T>A	ENST00000302418.4	-	3	698	c.241A>T	c.(241-243)Ata>Tta	p.I81L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TATGCAAATATTGTTCCATTA	0.333000			T	"""RET, ALK"""	NSCLC								4	34					0	0	0.009096	0	0
STMN4	81551	broad.mit.edu	37	8	27099205	27099205	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:27099205C>G	ENST00000350889.4	-	4	292	c.179G>C	c.(178-180)aGa>aCa	p.R60T	STMN4_ENST00000265770.7_Intron|STMN4_ENST00000522908.1_Missense_Mutation_p.R60T|STMN4_ENST00000519997.1_Intron|STMN4_ENST00000523048.1_Missense_Mutation_p.R60T|STMN4_ENST00000519614.1_Intron	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	36					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CTGAGCTCTTCTTTCTCTCCA	0.612000													3	101					0	0	0.004672	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395018	139395018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:139395018G>A	ENST00000277541.6	-	31	5995	c.5920C>T	c.(5920-5922)Caa>Taa	p.Q1974*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1974					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGACACCTTGTGCGTCGGCA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			21	105					0	0	0.055883	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389338	62389338	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62389338C>T	ENST00000531383.1	-	1	288	c.82_splice	c.e1+1	p.G28_splice	B3GAT3_ENST00000534026.1_Splice_Site_p.G28_splice|B3GAT3_ENST00000265471.5_Splice_Site_p.G28_splice			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	28					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						ccccgcTCACCGAGCTGTACC	0.716000													3	37					0	0	0.004672	0	0
LPO	4025	broad.mit.edu	37	17	56320355	56320355	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:56320355C>G	ENST00000262290.4	+	2	331	c.15C>G	c.(13-15)ctC>ctG	p.L5L	LPO_ENST00000421678.2_Silent_p.L5L|LPO_ENST00000582328.1_Silent_p.L5L|LPO_ENST00000543544.1_5'UTR	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	5					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTCCTTCTCCATCTCCCAG	0.537000													11	195					0	0	0.013537	0	0
MGAT3	4248	broad.mit.edu	37	22	39884499	39884499	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:39884499C>G	ENST00000341184.6	+	2	1362	c.1147C>G	c.(1147-1149)Cgc>Ggc	p.R383G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	383					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGCCTGCGCCGCCGCCAGTA	0.657000													10	81					0	0	0.020292	0	0
OPA3	80207	broad.mit.edu	37	19	46057095	46057095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057095C>T	ENST00000263275.4	-	2	271	c.217G>A	c.(217-219)Gag>Aag	p.E73K	OPA3_ENST00000544371.1_Missense_Mutation_p.E20K|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	73					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCGCCTCCTCGTTCAGCGGC	0.657000													5	30					0	0	0.014758	0	0
SUPT16H	11198	broad.mit.edu	37	14	21826091	21826091	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21826091C>T	ENST00000216297.2	-	21	2823	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	829					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCACCCATTCCGTAGCATTT	0.368000													4	37					0	0	0.009096	0	0
EXTL3	2137	broad.mit.edu	37	8	28573933	28573933	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:28573933G>C	ENST00000220562.4	+	3	1259	c.357G>C	c.(355-357)aaG>aaC	p.K119N	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	119						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)		CCTGTAAGAAGAGCATTGAGA	0.562000													8	24					0	0	0.038147	0	0
CUBN	8029	broad.mit.edu	37	10	16994286	16994286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:16994286G>A	ENST00000377833.4	-	33	5023	c.4958C>T	c.(4957-4959)gCg>gTg	p.A1653V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1653	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGGTTGCGCTTGAATGAT	0.458000													10	91					0	0	0.008291	0	0
DDC	1644	broad.mit.edu	37	7	50534944	50534944	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:50534944C>T	ENST00000444124.2	-	13	1410	c.1210G>A	c.(1210-1212)Gtc>Atc	p.V404I	DDC_ENST00000426377.1_Missense_Mutation_p.V326I|DDC_ENST00000431062.1_Missense_Mutation_p.V311I|DDC_ENST00000357936.5_Missense_Mutation_p.V404I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	404					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCCAGAATGACTTCCACACAG	0.448000													20	128					0	0	0.055883	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960239	152960239	+	Silent	SNP	G	G	A	rs149677083	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:152960239G>A	ENST00000253122.5	+	12	2138	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.P439P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	554			P -> L (in XL-CDS).		creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACGTGTACCCGTGGTGGGGTG	0.622000													8	32					0	0	0.038147	0	0
CEP135	9662	broad.mit.edu	37	4	56830508	56830508	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:56830508C>A	ENST00000257287.4	+	7	892	c.768C>A	c.(766-768)gtC>gtA	p.V256V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	256					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCCCTGATGTCCTTTCTCTGG	0.353000													5	38					1.23904e-05	1.32608e-05	0.014758	1	0
NANOS3	342977	broad.mit.edu	37	19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:13991286C>T	ENST00000397555.2	+	3	491	c.491C>T	c.(490-492)tCg>tTg	p.S164L	NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	164					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.S183L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612000											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0.021553	0	0
LRIT3	345193	broad.mit.edu	37	4	110791477	110791477	+	Silent	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:110791477G>T	ENST00000327908.3	+	4	1787	c.1023G>T	c.(1021-1023)ggG>ggT	p.G341G	LRIT3_ENST00000594814.1_Silent_p.G524G|LRIT3_ENST00000379920.3_Silent_p.G479G|LRIT3_ENST00000409621.2_Silent_p.G341G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	479	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGTATGGTGGGAAGGACCTGC	0.483000													16	114					1.99824e-07	2.15643e-07	0.033300	1	0
ZNF225	7768	broad.mit.edu	37	19	44635574	44635574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:44635574C>A	ENST00000262894.6	+	5	1087	c.807C>A	c.(805-807)ttC>ttA	p.F269L	ZNF225_ENST00000590612.1_Missense_Mutation_p.F269L|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGGCCTTCATTCATGATT	0.408000													10	88					0.00621372	0.00648932	0.006214	1	0
IQCH	64799	broad.mit.edu	37	15	67629376	67629376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:67629376C>A	ENST00000335894.4	+	5	517	c.451C>A	c.(451-453)Cat>Aat	p.H151N	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	151										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCCATCTTCTCATTGCACAGA	0.373000													12	99					0.00136819	0.0014523	0.013537	1	0
SNRK	54861	broad.mit.edu	37	3	43381993	43381993	+	Splice_Site	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:43381993T>C	ENST00000296088.7	+	5	1248		c.e5+2		SNRK_ENST00000454177.1_Splice_Site|SNRK_ENST00000429705.2_Splice_Site|SNRK_ENST00000437827.1_Splice_Site	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase						myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATTGTAGAGTACGTCAATGC	0.488000													5	38					0	0	0.014758	0	0
TNNI2	7136	broad.mit.edu	37	11	1862066	1862066	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:1862066G>A	ENST00000381906.1	+	6	273	c.204G>A	c.(202-204)ctG>ctA	p.L68L	TNNI2_ENST00000381911.1_Silent_p.L68L|TNNI2_ENST00000252898.7_Silent_p.L68L|TNNI2_ENST00000381905.3_Silent_p.L68L	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	68					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAACAGCTGCACGCCAAGA	0.672000													4	28					0	0	0.009096	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092834	79092834	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:79092834G>A	ENST00000388820.4	-	2	366	c.156C>T	c.(154-156)gaC>gaT	p.D52D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	52					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCCCCCCGCGTCGACTCGAA	0.677000													3	20					0	0	0.004672	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812939	31812939	+	Silent	SNP	A	A	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:31812939A>T	ENST00000334067.3	+	1	343	c.294A>T	c.(292-294)ggA>ggT	p.G98G		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	98						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTGGATGTGGAAACACTGGCC	0.493000													12	144					0	0	0.013537	0	0
TLK2	11011	broad.mit.edu	37	17	60598197	60598197	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:60598197G>C	ENST00000326270.9	+	3	413	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.E49Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E49Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E49Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	49					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAGTGATAAAGAAGTAGAGGT	0.413000													6	79					0	0	0.021553	0	0
LOC101928979	101928979	broad.mit.edu	37	1	145378949	145378950	+	RNA	INS	-	-	G	rs138005187	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:145378949_145378950insG	ENST00000419817.1	-	0	307																											ATGAAACGCGCCATTAGTACTG	0.460													3	3	---	---	---	---					
RP11-1028N23.4	0	broad.mit.edu	37	12	116030326	116030327	+	RNA	INS	-	-	T	rs113877692		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:116030326_116030327insT	ENST00000551940.1	-	0	343																											cctccattttcTTTTTTTTTTT	0.475													2	4	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4162-4167)ataaaafs	p.IK1388fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													7	127	---	---	---	---					
