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
ATP13A2	23400	broad.mit.edu	37	1	17316634	17316634	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:17316634C>T	uc001baa.2	-	20	2590	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	ATP13A2_uc001bac.2_Silent_p.V795V|ATP13A2_uc001bab.2_Silent_p.V795V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAACGCCATTCACGGCTGTGG	0.642												
TAS1R2	80834	broad.mit.edu	37	1	19166669	19166669	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:19166669G>A	uc001bba.1	-	5	1945	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	648					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AACGCACGGCGATACAGGAGA	0.627												
KIF17	57576	broad.mit.edu	37	1	21009290	21009290	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:21009290G>A	uc001bdr.4	-	10	2437	c.2319C>T	c.(2317-2319)taC>taT	p.Y773Y	KIF17_uc001bdp.4_Silent_p.Y51Y|KIF17_uc009vpx.3_Silent_p.Y143Y|KIF17_uc001bds.4_Silent_p.Y773Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	773					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTCGTCTGCGTAGCGCTTGC	0.622												
GJB4	127534	broad.mit.edu	37	1	35227336	35227336	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:35227336G>A	uc001bxw.4	+	0	481	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	GJB4_uc001bxv.1_Missense_Mutation_p.V161M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	161					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CATGCCCCGCGTGGTGGCCTG	0.582												
CD53	963	broad.mit.edu	37	1	111439300	111439300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:111439300C>T	uc001dzw.3	+	6	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M	CD53_uc001dzx.3_Missense_Mutation_p.T150M|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	150					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAAATGGCACGAGTGATTGG	0.428												
SPAG17	200162	broad.mit.edu	37	1	118558655	118558655	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:118558655C>A	uc001ehk.2	-	28	4288	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1407						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTCTAATCCTTTGGTGCC	0.448												
FLG	2312	broad.mit.edu	37	1	152275641	152275641	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:152275641G>A	uc001ezu.1	-	2	11757	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis			
MUC1	4582	broad.mit.edu	37	1	155161953	155161953	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155161953T>C	uc021pap.1	-	1	279	c.207A>G	c.(205-207)gtA>gtG	p.V69V	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.V60V|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Silent_p.V69V|MUC1_uc001fiw.2_Silent_p.V60V|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	842						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587			T	IGH@	B-NHL							
RIT1	6016	broad.mit.edu	37	1	155870206	155870206	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155870206G>C	uc001fmh.1	-	5	820	c.633C>G	c.(631-633)ttC>ttG	p.F211L	RIT1_uc010pgr.1_Missense_Mutation_p.F175L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	211					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCTTCTTCCGGAATGGTGATT	0.423												
IQGAP3	128239	broad.mit.edu	37	1	156503843	156503843	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:156503843G>A	uc001fpf.3	-	29	3906	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1277					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.P1277H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTACACCATGGGTTTGGCCA	0.592												
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:160607074G>A	uc001fwl.4	-	1	668	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	108					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468												
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:26305807G>A	uc001isn.2	+	6	927	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	189	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448												
PTEN	5728	broad.mit.edu	37	10	89653833	89653833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:89653833G>A	uc001kfb.3	+	1	1163	c.131G>A	c.(130-132)gGc>gAc	p.G44D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	44	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G44D(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44fs*8(2)|p.G44fs*11(2)|p.Y27_N212>Y(2)|p.E43*(1)|p.E43fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGAAGGCGTATACAGG	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
NLRP6	171389	broad.mit.edu	37	11	285212	285212	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:285212G>T	uc010qvs.2	+	7	2587	c.2587G>T	c.(2587-2589)Gct>Tct	p.A863S	NLRP6_uc010qvt.2_Missense_Mutation_p.A862S	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	863						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTTCAGGCTGTGAAGAG	0.617												
OR51A2	401667	broad.mit.edu	37	11	4976634	4976634	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:4976634A>T	uc010qyt.2	-	0	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		TGAATGAAGAATTCCTGGGCA	0.448												
OR52E2	119678	broad.mit.edu	37	11	5080295	5080295	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:5080295T>C	uc010qyw.2	-	0	563	c.563A>G	c.(562-564)cAt>cGt	p.H188R		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAAGATAGATGAGCAAGACC	0.388												
PAX6	5080	broad.mit.edu	37	11	31824337	31824337	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:31824337C>A	uc009yjr.3	-	4	525	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PAX6_uc001mtd.4_Missense_Mutation_p.R19L|PAX6_uc001mte.4_Missense_Mutation_p.R19L|PAX6_uc001mtg.4_Missense_Mutation_p.R19L|PAX6_uc001mtf.4_Missense_Mutation_p.R19L|PAX6_uc001mth.4_Missense_Mutation_p.R19L|PAX6_uc021qfl.1_Missense_Mutation_p.R19L|PAX6_uc021qfm.1_Missense_Mutation_p.R19L|PAX6_uc021qfn.1_Missense_Mutation_p.R19L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	19	Paired.		R -> P (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGCAGTGGCCGCCCGTTGAC	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
OR4D6	219983	broad.mit.edu	37	11	59224437	59224437	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:59224437G>T	uc010rku.2	+	0	4	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCCATCATGGACCAGATCAA	0.423												
MS4A8B	83661	broad.mit.edu	37	11	60470943	60470943	+	Silent	SNP	C	C	T	rs144254483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60470943C>T	uc001npv.3	+	2	515	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MS4A8B_uc009yne.1_Silent_p.Y104Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	104						integral to membrane	receptor activity	p.Y104*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTTCATTCTACGGAGGCTTTC	0.567												
CD6	923	broad.mit.edu	37	11	60739382	60739382	+	Silent	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60739382C>A	uc001nqq.3	+	0	270	c.45C>A	c.(43-45)ctC>ctA	p.L15L	CD6_uc009yni.3_Silent_p.L15L|CD6_uc009ynj.3_Silent_p.L15L|CD6_uc001nqp.3_Silent_p.L15L|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.L15L|CD6_uc001nqt.3_Silent_p.L15L	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	15					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CGGCAGCCCTCTCAGGTAGGC	0.602												
DDB1	1642	broad.mit.edu	37	11	61079499	61079499	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:61079499C>G	uc001nrc.4	-	16	2353	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.K709N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	709	Interaction with CDT1.|Interaction with CUL4A.				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			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						GAATGTGCAGCTTCTGGATCT	0.547								Nucleotide excision repair (NER)				
NPAS4	266743	broad.mit.edu	37	11	66190325	66190325	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:66190325G>A	uc001ohx.1	+	3	787	c.611G>A	c.(610-612)gGc>gAc	p.G204D	NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	204	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGGTCCTGGCCCTGGCCCT	0.632												
ODZ4	26011	broad.mit.edu	37	11	78380034	78380034	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:78380034G>C	uc001ozl.4	-	31	7819	c.7356C>G	c.(7354-7356)ttC>ttG	p.F2452L	ODZ4_uc001ozk.4_Missense_Mutation_p.F677L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2452					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTTGTTTTTGAACATATAGA	0.507												
FOLH1B	219595	broad.mit.edu	37	11	89405127	89405127	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:89405127C>G	uc001pda.3	+	4	780	c.254C>G	c.(253-255)gCt>gGt	p.A85G		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	85					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGTGGAGCAGCTGTTGTTCAT	0.418												
ERC1	23085	broad.mit.edu	37	12	1291107	1291107	+	Missense_Mutation	SNP	G	G	A	rs138512011	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:1291107G>A	uc001qjb.2	+	9	2133	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.3_Missense_Mutation_p.R271H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	631					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAATTGAACGCTTAAAGGAG	0.378												
FOXJ2	55810	broad.mit.edu	37	12	8192492	8192492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:8192492G>A	uc001qtu.3	+	1	1149	c.64G>A	c.(64-66)Gct>Act	p.A22T	FOXJ2_uc001qtt.1_Missense_Mutation_p.A22T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	22					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACCCTCCGAGCTACCATTGA	0.582												
C12orf35	55196	broad.mit.edu	37	12	32138039	32138039	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:32138039G>C	uc001rks.3	+	3	4564	c.4150G>C	c.(4150-4152)Gat>Cat	p.D1384H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1384										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GAACGTATTAGATATGGAAGT	0.343												
LARP4	113251	broad.mit.edu	37	12	50831593	50831593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:50831593G>A	uc001rwp.2	+	5	813	c.611G>A	c.(610-612)aGa>aAa	p.R204K	LARP4_uc001rwq.2_Missense_Mutation_p.R204K|LARP4_uc001rwt.2_Missense_Mutation_p.R204K|LARP4_uc001rws.2_Missense_Mutation_p.R203K|LARP4_uc001rwr.2_Missense_Mutation_p.R204K|LARP4_uc021qxv.1_Missense_Mutation_p.R134K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.3_Missense_Mutation_p.R204K|LARP4_uc001rwn.3_Missense_Mutation_p.R134K	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	204	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATTCTTAGAGAGATTCCT	0.338												
C12orf63	374467	broad.mit.edu	37	12	97052014	97052014	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:97052014C>A	uc021rcc.1	+	4	703	c.625C>A	c.(625-627)Cca>Aca	p.P209T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	209										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAAGTGACACCACTTCTGGT	0.388												
CHD8	57680	broad.mit.edu	37	14	21876716	21876716	+	Splice_Site	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:21876716T>C	uc001war.2	-	12	2552	c.2487_splice	c.e12-1	p.R829_splice	CHD8_uc001was.2_Splice_Site_p.R550_splice|CHD8_uc001wav.1_Splice_Site	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	829	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCTGCCTGCAGATTCAC	0.353												
LRRC16B	90668	broad.mit.edu	37	14	24538046	24538046	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:24538046A>G	uc001wlj.2	+	37	4010	c.3853A>G	c.(3853-3855)Agg>Ggg	p.R1285G	LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1285										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCTGTGCCCAGGGGCCGCCA	0.637												
KIAA0284	283638	broad.mit.edu	37	14	105353636	105353636	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:105353636G>A	uc001yps.3	+	10	3156	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	KIAA0284_uc010axb.3_Missense_Mutation_p.M950I|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1020						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CGACGGACATGGGCCGTGGAG	0.701												
UNKL	64718	broad.mit.edu	37	16	1417320	1417320	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:1417320C>T	uc010brn.2	-	13	1823	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	UNKL_uc002cln.3_Missense_Mutation_p.E106K|UNKL_uc002clp.3_Missense_Mutation_p.E106K|UNKL_uc002clo.3_Missense_Mutation_p.E103K	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	604						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCTTGGCCTCCTGCGCCTCT	0.667												
ABCA3	21	broad.mit.edu	37	16	2369841	2369841	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:2369841C>T	uc002cpy.1	-	8	1326	c.614_splice	c.e8-1	p.G205_splice	ABCA3_uc010bsk.1_Splice_Site_p.G205_splice|ABCA3_uc010bsl.1_Splice_Site_p.G205_splice	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	205					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGGATGTACCCTGGGTGCGG	0.657												
GRIN2A	2903	broad.mit.edu	37	16	10274212	10274212	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:10274212G>A	uc010uym.2	-	2	367	c.57C>T	c.(55-57)cgC>cgT	p.R19R	GRIN2A_uc002czo.4_Silent_p.R19R|GRIN2A_uc002czr.4_Silent_p.R19R|GRIN2A_uc010buk.3_Silent_p.R19R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	19					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R19C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCCGGACCGCGCCAGACCA	0.657												
GGA2	23062	broad.mit.edu	37	16	23505700	23505700	+	Splice_Site	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:23505700C>T	uc002dlq.3	-	3	260	c.177_splice	c.e3-1	p.G59_splice	GGA2_uc010bxo.2_Splice_Site	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	59	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATGTGTGGGGCTACAGGGAAA	0.522												
CETP	1071	broad.mit.edu	37	16	57017290	57017290	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57017290C>T	uc002eki.2	+	14	1431	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	CETP_uc002ekj.2_Silent_p.F398F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	458					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGAGCCTCTTCGACATCATCA	0.592												
GPR114	221188	broad.mit.edu	37	16	57609404	57609404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57609404C>T	uc002ely.3	+	11	2064	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	GPR114_uc002elx.4_Missense_Mutation_p.A514V|GPR114_uc010vhr.2_3'UTR	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAGCAGAGGCCAAGGCACAG	0.612												
SPDYE4	388333	broad.mit.edu	37	17	8658884	8658884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8658884C>T	uc010cnz.1	-	3	616	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	147										breast(1)|endometrium(2)|kidney(1)	4						GAGAAGAGGCCGGCACGGCTA	0.493												
PIK3R5	23533	broad.mit.edu	37	17	8784088	8784088	+	Silent	SNP	C	C	T	rs141893152	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8784088C>T	uc002glt.3	-	18	2578	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	PIK3R5_uc010vuz.2_Silent_p.P837P|PIK3R5_uc021tqc.1_Silent_p.P451P|PIK3R5_uc010cob.2_Silent_p.P451P|PIK3R5_uc010coa.2_Silent_p.P451P|PIK3R5_uc002glu.4_Silent_p.P451P	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	837					platelet activation	cytosol|membrane|nucleus		p.P837L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCTTGTAGCACGGTGAGACCT	0.647												
KCNJ18	3768	broad.mit.edu	37	17	21318735	21318735	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:21318735C>T	uc021tss.1	+	2	451	c.81C>T	c.(79-81)ggC>ggT	p.G27G	KCNJ18_uc002gyv.1_Silent_p.G27G|KCNJ18_uc021tst.1_Silent_p.G27G	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	27						integral to membrane	inward rectifier potassium channel activity										CCATGTCGGGCGCCAACGGCT	0.657												
CCL15	348249	broad.mit.edu	37	17	34313606	34313606	+	Splice_Site	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:34313606C>A	uc010wcs.2	-	5		c.1075_splice	c.e5+1		CCL14_uc010wcq.1_Intron|CCL14_uc010wcr.1_Intron|CCL14_uc002hkn.2_Intron|CCL15_uc010wct.2_Splice_Site|BC070118_uc002hkq.3_Non-coding_Transcript			Q16663	CCL15_HUMAN	Homo sapiens CCL14-CCL15 readthrough (CCL14-CCL15), transcript variant 1, non-coding RNA.						cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCACTCACGTGAGGAGGA	0.557												
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:62144066C>T	uc002jdz.2	-	7	920	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592												
SLC16A5	9121	broad.mit.edu	37	17	73096774	73096774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:73096774G>A	uc002jmr.3	+	4	1388	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	SLC16A5_uc002jmt.3_Missense_Mutation_p.S339N|SLC16A5_uc002jmu.3_Missense_Mutation_p.S339N|SLC16A5_uc010wrt.2_Missense_Mutation_p.S379N	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	339					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGCGTACAGCGTGTCCATG	0.592												
ENGASE	64772	broad.mit.edu	37	17	77081747	77081747	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:77081747C>T	uc002jwv.3	+	12	1754	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	ENGASE_uc002jww.3_Silent_p.L287L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	582						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TAGACCTCCTCGTTTGCTTCT	0.662												
CCDC68	80323	broad.mit.edu	37	18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:52604167C>T	uc002lfs.3	-	5	540	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_uc002lft.3_Missense_Mutation_p.G123E	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418												
DOK6	220164	broad.mit.edu	37	18	67365777	67365777	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:67365777T>A	uc002lkl.3	+	4	744	c.547T>A	c.(547-549)Tca>Aca	p.S183T		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	183	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCTCTCAGCTCACTGAGGAG	0.463												
FZR1	51343	broad.mit.edu	37	19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:3531983A>C	uc010dtk.2	+	8	932	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	300					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCCGCACCCCGCCACT	0.711												
ZNF442	79973	broad.mit.edu	37	19	12461021	12461021	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:12461021G>A	uc002mtr.1	-	5	1989	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATTTATAGGGTTTCTCTCCA	0.378												
PSG8	440533	broad.mit.edu	37	19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	rs142689447		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:43268388G>A	uc002ouo.2	-	1	208	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T37M|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	37	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463												
RTN2	6253	broad.mit.edu	37	19	45998164	45998164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:45998164C>T	uc002pcb.3	-	2	409	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RTN2_uc002pcc.3_Missense_Mutation_p.R60Q|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	60						integral to endoplasmic reticulum membrane	signal transducer activity	p.R60W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGTCAGCTCCCGGGGGGTGCC	0.662												
TRPM4	54795	broad.mit.edu	37	19	49686170	49686170	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:49686170C>T	uc002pmw.3	+	10	1707	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TRPM4_uc010emu.3_Silent_p.F533F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Silent_p.F359F|TRPM4_uc010emv.3_Silent_p.F418F|TRPM4_uc010yal.2_Silent_p.F179F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	533					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCAGGGCTTCGGGGAGAGCG	0.711												
PIKFYVE	200576	broad.mit.edu	37	2	209179975	209179975	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:209179975C>G	uc002vcz.3	+	14	2043	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	629					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGTGACTCACTGTCATCATC	0.423												
TNS1	7145	broad.mit.edu	37	2	218749762	218749762	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:218749762G>T	uc002vgt.2	-	13	1265	c.867C>A	c.(865-867)ttC>ttA	p.F289L	TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	289	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCACCTTTGAAAGCATCAT	0.572												
ITM2C	81618	broad.mit.edu	37	2	231740464	231740464	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:231740464G>A	uc002vqz.3	+	2	511	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	ITM2C_uc002vra.3_Missense_Mutation_p.V84M|ITM2C_uc002vrb.3_Missense_Mutation_p.V131M|ITM2C_uc002vrc.3_Missense_Mutation_p.V20M|ITM2C_uc002vrd.3_Missense_Mutation_p.V20M	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	131					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGCATCAACGTGCCTGTGCC	0.617												
COL6A3	1293	broad.mit.edu	37	2	238275697	238275697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:238275697G>C	uc002vwl.2	-	10	5418	c.5133C>G	c.(5131-5133)taC>taG	p.Y1711*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1711	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCCCTTTGTAGACCACTT	0.557												
SULF2	55959	broad.mit.edu	37	20	46318884	46318884	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:46318884G>A	uc002xto.3	-	4	1053	c.723C>T	c.(721-723)aaC>aaT	p.N241N	SULF2_uc002xtr.3_Silent_p.N241N|SULF2_uc002xtq.3_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	241					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N241K(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567												
HRH3	11255	broad.mit.edu	37	20	60791774	60791774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:60791774G>A	uc002yci.3	-	2	923	c.626C>T	c.(625-627)aCg>aTg	p.T209M	HRH3_uc002ycf.2_Missense_Mutation_p.T209M|HRH3_uc002ych.3_Missense_Mutation_p.T209M|HRH3_uc002ycg.3_Missense_Mutation_p.T209M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	209					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAGGAAGGGCGTAAAGAACTC	0.612												
COL6A2	1292	broad.mit.edu	37	21	47535812	47535812	+	Silent	SNP	G	G	A	rs140790797		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr21:47535812G>A	uc002zia.1	+	5	910	c.828G>A	c.(826-828)ccG>ccA	p.P276P	COL6A2_uc002zhz.1_Silent_p.P276P|COL6A2_uc002zhy.1_Silent_p.P276P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	276	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGGTGAGCCGGGAGAGCCTG	0.662												
TRIOBP	11078	broad.mit.edu	37	22	38119624	38119624	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:38119624C>A	uc003atr.3	+	6	1332	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	TRIOBP_uc003atu.3_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	354					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGATAACCCCAGAACCTCT	0.577												
PNPLA5	150379	broad.mit.edu	37	22	44287074	44287074	+	Missense_Mutation	SNP	C	C	A	rs79793310	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:44287074C>A	uc003beg.3	-	1	427	c.294G>T	c.(292-294)caG>caT	p.Q98H	PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.Q98H|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_5'UTR	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	98	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCAGCTGCTGCTTGACGT	0.662												
ATP2B2	491	broad.mit.edu	37	3	10387071	10387071	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:10387071C>T	uc003bvt.3	-	17	3139	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP2B2_uc003bvv.3_Silent_p.T855T|ATP2B2_uc003bvw.3_Silent_p.T855T|ATP2B2_uc010hdo.3_Silent_p.T605T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	900					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GACCCACCTGCGTGATGCAGG	0.627												
SPICE1	152185	broad.mit.edu	37	3	113169336	113169336	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:113169336G>T	uc003eag.4	-	14	2461	c.2170C>A	c.(2170-2172)Cca>Aca	p.P724T	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.P620T	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	724					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATACTACCTGGTGTTAGAGAC	0.373												
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:128696988T>C	uc003elj.4	-	4	904	c.708A>G	c.(706-708)gaA>gaG	p.E236E	KIAA1257_uc003elg.1_Silent_p.E236E|KIAA1257_uc003eli.4_Silent_p.E124E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358												
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557												
PLCH1	23007	broad.mit.edu	37	3	155203313	155203313	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:155203313C>T	uc021xge.1	-	21	3107	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLCH1_uc021xgd.1_Missense_Mutation_p.D944N|PLCH1_uc021xgf.1_Missense_Mutation_p.D906N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	944					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S944*(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACACAGAATCCTTTATCTCC	0.522												
PEX5L	51555	broad.mit.edu	37	3	179526143	179526143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:179526143C>T	uc003fki.1	-	12	1565	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	479					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCCCTAGACCTGTCTGCAGG	0.458												
HTR3E	285242	broad.mit.edu	37	3	183823993	183823993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:183823993G>A	uc010hxr.3	+	5	1275	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	HTR3E_uc010hxq.3_Missense_Mutation_p.V335M|HTR3E_uc003fml.4_Missense_Mutation_p.V320M|HTR3E_uc003fmm.3_Missense_Mutation_p.V350M|HTR3E_uc003fmn.3_Missense_Mutation_p.V335M	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	335						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTGCTGCACGTGGCCACCAC	0.667												
UNC5C	8633	broad.mit.edu	37	4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:96199412C>T	uc003hto.3	-	3	945	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_uc010ilc.2_Missense_Mutation_p.E198K|UNC5C_uc003htq.3_Missense_Mutation_p.E198K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	198	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.A197D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453												
ANK2	287	broad.mit.edu	37	4	114277204	114277204	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:114277204A>T	uc003ibe.4	+	37	7530	c.7430A>T	c.(7429-7431)aAg>aTg	p.K2477M	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2492M	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2444					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAACCAAAGATGAAGGCT	0.502												
IL2	3558	broad.mit.edu	37	4	123374886	123374886	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:123374886G>A	uc003ier.3	-	2	385	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	110					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GAACTATTACGTTGATATTGC	0.353			T	TNFRSF17	intestinal T-cell lymphoma							
RBM46	166863	broad.mit.edu	37	4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:155719190C>T	uc003ioo.3	+	2	552	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338												
GUCY1A3	2982	broad.mit.edu	37	4	156632019	156632019	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:156632019G>A	uc003iov.3	+	6	1238	c.702G>A	c.(700-702)tcG>tcA	p.S234S	GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc010iqd.3_Silent_p.S233S|GUCY1A3_uc003iow.3_Silent_p.S234S|GUCY1A3_uc003iox.3_Silent_p.S234S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S234S|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.S234S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	234					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGAAGTGTCGTTAATGCCTC	0.468												
KIAA0947	23379	broad.mit.edu	37	5	5464633	5464633	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:5464633G>T	uc003jdm.4	+	12	5408	c.5186G>T	c.(5185-5187)gGc>gTc	p.G1729V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1729	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTGTGCCTGGCCGACTCCCA	0.587												
CDH9	1007	broad.mit.edu	37	5	26885950	26885950	+	Missense_Mutation	SNP	C	C	T	rs150128137		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:26885950C>T	uc003jgs.1	-	10	1824	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R552Q(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCATCTTTCCGAGTCATGAT	0.343												
PCDHAC2	56137	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:140256671C>T	uc003lic.2	+	0	1741	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.R538R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692												
PPP2R2B	5521	broad.mit.edu	37	5	146030195	146030195	+	Silent	SNP	A	A	T	rs146742970	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:146030195A>T	uc011dbv.2	-	6	977	c.714T>A	c.(712-714)tcT>tcA	p.S238S	PPP2R2B_uc010jgm.3_Silent_p.S169S|PPP2R2B_uc003loe.3_Silent_p.S180S|PPP2R2B_uc003log.4_Silent_p.S180S|PPP2R2B_uc003lof.4_Silent_p.S180S|PPP2R2B_uc003loi.4_Silent_p.S183S|PPP2R2B_uc003loh.4_Silent_p.S180S|PPP2R2B_uc003lok.4_Silent_p.S169S|PPP2R2B_uc003loj.4_Silent_p.S160S|PPP2R2B_uc011dbu.2_Silent_p.S186S	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	180					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGTTGACAGATATGGAGT	0.458												
FAM71B	153745	broad.mit.edu	37	5	156589483	156589483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:156589483A>G	uc003lwn.3	-	1	1893	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	598						nucleus		p.I598I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGACGATCATCTCCGT	0.517												
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567												
PKHD1	5314	broad.mit.edu	37	6	51523897	51523897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:51523897C>T	uc003pah.1	-	60	11303	c.11027G>A	c.(11026-11028)gGa>gAa	p.G3676E		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3676					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAATCATTCCAGTGCTCCT	0.403												
ZNF292	23036	broad.mit.edu	37	6	87865454	87865454	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:87865454G>T	uc003plm.4	+	0	186	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF292_uc003plk.3_Non-coding_Transcript|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCGGCCACCGACTACTGTCA	0.726												
GPR6	2830	broad.mit.edu	37	6	110300407	110300407	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:110300407C>T	uc011eav.2	+	2	381	c.137C>T	c.(136-138)cCg>cTg	p.P46L	GPR6_uc011eaw.2_Missense_Mutation_p.P31L|GPR6_uc003ptu.3_Missense_Mutation_p.P31L|GPR6_uc021zds.1_Missense_Mutation_p.P31L	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	31						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		gcaggggggccggACACGGGC	0.736												
EGFR	1956	broad.mit.edu	37	7	55221722	55221722	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:55221722G>T	uc003tqk.3	+	6	1012	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	EGFR_uc003tqh.3_Missense_Mutation_p.D256Y|EGFR_uc003tqi.3_Missense_Mutation_p.D256Y|EGFR_uc003tqj.3_Missense_Mutation_p.D256Y|EGFR_uc022adm.1_Missense_Mutation_p.D256Y|EGFR_uc010kzg.2_Missense_Mutation_p.D211Y|EGFR_uc022adn.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.2_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAATTCCGAGACGAAGCCAC	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
MYL10	93408	broad.mit.edu	37	7	101256837	101256837	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:101256837G>A	uc003uyr.3	-	7	777	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	200	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GGGAAATGCTGCAAACATCTG	0.562												
PTPRZ1	5803	broad.mit.edu	37	7	121653409	121653409	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:121653409T>A	uc003vjy.3	+	11	4704	c.4309T>A	c.(4309-4311)Tta>Ata	p.L1437I	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1437					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTGATGGCTTATCCATTCA	0.418												
UBE3C	9690	broad.mit.edu	37	7	157046771	157046771	+	Missense_Mutation	SNP	C	C	T	rs142140245		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:157046771C>T	uc010lqs.3	+	19	3130	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C	UBE3C_uc003wni.4_Missense_Mutation_p.R303C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	940	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGGCTTTCCGCCAGGGCCT	0.562												
ADAM28	10863	broad.mit.edu	37	8	24200682	24200682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:24200682C>A	uc003xdy.3	+	16	1982	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Nonsense_Mutation_p.C320*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	633	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CATCTAAGTGCAAAGGACATG	0.358												
DOCK5	80005	broad.mit.edu	37	8	25203034	25203034	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:25203034C>T	uc003xeg.3	+	25	2798	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.3_Silent_p.S457S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	887						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCAGCTCAGCGGCCAGTTAG	0.557												
TGS1	96764	broad.mit.edu	37	8	56699365	56699365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:56699365A>G	uc003xsj.4	+	3	1295	c.908A>G	c.(907-909)gAt>gGt	p.D303G	TGS1_uc010lyh.3_Missense_Mutation_p.D207G	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	303					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTATGGTTGATAATGATAGC	0.333												
SYBU	55638	broad.mit.edu	37	8	110588241	110588241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:110588241C>A	uc010mcp.3	-	8	1247	c.885_splice	c.e8-1	p.R295_splice	SYBU_uc003yni.4_Splice_Site_p.R292_splice|SYBU_uc003ynk.4_Splice_Site_p.R176_splice|SYBU_uc003ynj.4_Splice_Site_p.R295_splice|SYBU_uc010mco.3_Splice_Site_p.R294_splice|SYBU_uc003ynl.4_Splice_Site_p.R294_splice|SYBU_uc010mcq.3_Splice_Site_p.R295_splice|SYBU_uc003yno.4_Splice_Site_p.R176_splice|SYBU_uc010mcr.3_Splice_Site_p.R295_splice|SYBU_uc003ynm.4_Splice_Site_p.R294_splice|SYBU_uc003ynn.4_Splice_Site_p.R294_splice|SYBU_uc010mcs.3_Splice_Site_p.R176_splice|SYBU_uc010mct.3_Splice_Site_p.R295_splice|SYBU_uc010mcu.3_Splice_Site_p.R294_splice|SYBU_uc003ynp.4_Splice_Site_p.R227_splice|SYBU_uc010mcv.3_Splice_Site_p.R295_splice|SYBU_uc003ynh.4_Splice_Site_p.R89_splice|SYBU_uc011lhw.2_Splice_Site_p.R165_splice	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	295	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTTCACTTTCCCTAGAGTGC	0.463												
RFX3	5991	broad.mit.edu	37	9	3225104	3225104	+	Missense_Mutation	SNP	C	C	T	rs137899630	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:3225104C>T	uc003zhr.3	-	17	2500	c.2188G>A	c.(2188-2190)Gtc>Atc	p.V730I	RFX3_uc010mhd.3_Missense_Mutation_p.V730I	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	730					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTACTTGTGACAATGTGCTCG	0.478												
FAM75D1	389763	broad.mit.edu	37	9	84609494	84609494	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:84609494A>G	uc004amn.3	+	3	4156	c.4109A>G	c.(4108-4110)gAa>gGa	p.E1370G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1370						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCATATGAAGAACAAGAAAGT	0.433												
CACNA1B	774	broad.mit.edu	37	9	140904511	140904511	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:140904511C>T	uc004cog.3	+	16	2287	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CACNA1B_uc022bqn.1_Silent_p.N714N|CACNA1B_uc011mfd.2_Silent_p.N316N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	714					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)	ACCTGGCCAACGCCCAAGAGC	0.607												
VCX2	51480	broad.mit.edu	37	X	8138151	8138151	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:8138151C>T	uc004csb.3	-	2	649	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_016378	NP_057462	Q9H322	VCX2_HUMAN	Homo sapiens variable charge, X-linked 2 (VCX2), mRNA.	114	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TCTCCTGACTCAGTGGTTCTT	0.642												
PHEX	5251	broad.mit.edu	37	X	22112133	22112133	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:22112133T>C	uc004dah.3	+	6	968	c.765T>C	c.(763-765)gaT>gaC	p.D255D	PHEX_uc011mjr.2_Silent_p.D255D|PHEX_uc011mjs.2_Silent_p.D158D	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	255					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCATGGTGGATACTGCCGTGC	0.408												
BCOR	54880	broad.mit.edu	37	X	39922999	39923002	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:39922999_39923002delCTTC	uc004den.4	-	7	3998_4001	c.3706_3709delGAAG	c.(3706-3711)gaagtgfs	p.E1236fs	BCOR_uc004dep.4_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.4_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Del_p.E1202fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1236					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTGGGTCACTTCCTTCCTGCTT	0.559			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
SLC9A7	84679	broad.mit.edu	37	X	46618211	46618211	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:46618211A>T	uc004dgu.1	-	0	262	c.254T>A	c.(253-255)aTc>aAc	p.I85N	SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	85					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGTGAGGATGGTGAGCGT	0.632												
HUWE1	10075	broad.mit.edu	37	X	53600812	53600812	+	Silent	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:53600812A>G	uc004dsp.3	-	46	6612	c.6210T>C	c.(6208-6210)acT>acC	p.T2070T	HUWE1_uc004dsn.3_Silent_p.T894T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2070					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACGAAGGATAGTGGAGGTAG	0.502												
POF1B	79983	broad.mit.edu	37	X	84634246	84634246	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:84634246G>A	uc004eer.2	-	1	360	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	POF1B_uc004ees.3_Missense_Mutation_p.R72W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	72							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCACTTCCCGTGAGTTGAAG	0.517												
AGTR2	186	broad.mit.edu	37	X	115303791	115303791	+	Silent	SNP	C	C	T	rs13306157		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:115303791C>T	uc022cdd.1	+	0	258	c.258C>T	c.(256-258)ctC>ctT	p.L86L	AGTR2_uc004eqh.4_Silent_p.L86L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	86					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCTTCAACCTCGCTGTGGCTG	0.378												
MAGEA5	4104	broad.mit.edu	37	X	151283685	151283685	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:151283685T>A	uc004ffj.3	-	2	500	c.328A>T	c.(328-330)Agt>Tgt	p.S110C	MAGEA5_uc022cgy.1_Missense_Mutation_p.S110C	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	110	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTTCTTACTGAGTGCTGCT	0.488												
